A 27-day-old male infant with unrelated healthy parents was referred to our clinic with generalized tonic convulsions that started on his first day of life. He had been hospitalized at the neonatal intensive care unit of a local hospital due to meconium inhalation and suffocation. The neonate was the parents' first child, and there were no known prenatal or perinatal complications. There was no family history of epilepsy, mental retardation, and dyskinesia, and his mother had no history of exposure to poison or trauma during pregnancy. On the day of birth, the neonate's convulsions were characterized as orthocolosis and strabismus in both eyes lasting for one to several minutes at a time and occurring with a frequency of more than 10 times per day. Magnetic resonance imaging and magnetic resonance angiography revealed no significant structural abnormalities. Routine blood work and blood biochemistry, as well as genetic metabolic disease testing, yielded normal results. An initial video electroencephalogram revealed poor background reactivity during episodes; a large number of irregular spikes during the episode, which were clustered and recorded in the right temporal region; and abnormal activity of the right hemisphere (). The seizures still occurred frequently despite administration of 5 mg/(kg/day)−1 of phenobarbital sodium, 40 mg/(kg/day)−1 of levetiracetam, 5 mg/(kg/day)−1 of topiramate, and 2 g/kg of γ-globulin.
Gene testing revealed the presence of a c.4425C>G (p.Asn-1475Lys) mutation in the SCN2A gene with a mutation ratio of 13/58 (). The parents did not carry this mutation, suggesting that it was a newly developed mutation and possibly a chimera. This clinical feature associated with genetic results suggested that it was EOEE.
After undergoing routine laboratory evaluations, the infant was started on a ketogenic diet (KD) at a ratio of 0.5:1. KD formulas (Qitong) were provided by Shenzhen Zeneca Biotechnology Co., Ltd (Shenzhen, Guangdong, China). His seizures decreased slightly on his first 3 days on the KD. Except for day 5 of the diet, when he experienced 50 seizures, the patient had fewer than 10 seizures daily, and this was a lower frequency than that before initiation of the diet (). The KD ratio was gradually increased until a ratio of 2:1 was reached, and the patient continued to receive a KD at this stable ratio with good efficacy. He was discharged from the hospital after 2 weeks due to gradual decreases in seizures. The dietitian followed up the patient every week by telephone. After being on the KD for 1 month, he was re-examined and found to have mild seizures fewer than 5 times/day. The infant was then completely seizure-free 3 months later, and the anti-epileptic drugs were gradually reduced from the fifth month of age. At the time of writing this paper, the infant is still on a KD. Ethical approval for publication was obtained from the Second Hospital of Hebei Medical University and the parents of the patients.


A 58-year-old man reported with an 8-month history of tingling sensation of both upper and lower limbs, sphincteric disturbances, pain in the back of the neck, and decreased sensation of the lower abdomen for the last 2 months; quadriparesis chronologically involving the right upper limb, right lower limb, left upper limb, and left lower limb for the last 8 months; decreased sensation of the right ring finger, right little finger, and medial side of the right upper limb, followed by involvement of the left upper limb. Neurological examination revealed atrophy in both arms, forearms and hands, atrophy of the calf muscles (bilaterally), and the sensory system below dorsal 6 vertebrae was decreased. His upper limb tone was increased, and lower limb tone was reduced. Electromyographic findings were suggestive of chronic partial denervation. Nerve conduction studies revealed sensorimotor polyneuropathy. Magnetic resonance imaging (MRI) of the brain suggested chronic ischaemic changes in the periventricular and fronto-parietal subcortical regions of both hemispheres, and lacunar infarcts in the right basal ganglion. Spinal cord MRI suggested C4-C5 compres-sive myelopathy with cord atrophy, C3-C4 posterior disc prolapse causing central canal narrowing, and C4-C5 to C6-C7 neuroforaminal narrowing causing nerve root compression. After comprehensive neurological exami-nation, a diagnosis of C4-C5 prolapsed intervertebral disc was made.
The patient underwent C4 corpectomy with adjacent discectomy and screwed plate fixation C3-C5 below. Recommendations for physical therapy were given postsurgery. Physical examination revealed hypotonicity in the limbs; voluntary control was relatively preserved in the upper limbs and more affected in the lower limbs. He was non-ambulatory and dependent for activities of daily living. He also presented with hoarseness of the voice and was referred for speech-language pathology consultation.
The patient was assessed in quiet surroundings under standard test conditions. He did not use a Fruster or neck binder. Detailed analysis of all speech subsystems was conducted. Performance evaluation on each of the sub-systems and corresponding tests are presented in . The diagnosis was made as flaccid dysarthria consequent to SCO and recurrent laryngeal nerve damage
The French-ay Dysarthria Assessment-2 (FDA-2) was utilized to determine physical functioning of the reflexes, respiratory, laryngeal, and articulatory subsystems, and intelligibility of speech production (). The FDA ratings (a through $) were transformed into numerical values (8 to 0) for the purpose of numerical interpretation. Each point on the FDA form was denoted as equalling 1, so that a rating of “e” (denoting no functioning) was given a value of zero and a rating of “a” (normal functioning) was given a value of 8. Major deficits were observed in areas of respiration (poor respiratory control) and laryngeal functions (gradual deterioration in voice production). Cranial nerve examination was performed to determine the nerve functioning of cranial nerves V, VII, IX, X, XI and XII, the ones important for speech purposes. Cranial nerves IX and X, in particular, were found to be affected, manifesting as mild problems with swallowing and absence of gag reflex. Ear nose and throat (ENT) consultation was requested, and an indirect laryngoscope examination revealed less movement and bowing of the left vocal cord during phonation (presence of donatory gap). The right vocal cord was observed to be compensating. A subsequent MR procedure revealed mild denervation atrophy of the posterior cricoarytenoid muscle, where atrophy of the posterior cricoarytenoid muscle can be an indicator of recurrent laryngeal nerve palsy ().
Detailed voice analysis was conducted using Dr Speech Software (Tiger Electronics DBS Inc., Seattle, A, USA) to assess frequency, intensity, tremors, signals to noise ratio and voice quality parameters. Buffalo III voice screening profile () was used in favour of the voice parameters on the instrumental analysis. Three experienced speech-language pathologists perceptually rated the subject’s voice on a reading passage task. The patient was instructed to read the passage at his normal speaking rate, selecting a loudness level that was appropriate for conversational speech between 2 people in a quiet room. Major findings were: higher-pitched voice and reduced loudness, and increased cycle-two-cycle variations in fundamental frequency and amplitude.
Naso metric findings were recorded on Gasometer II Model 6400 (Kay Pantex, Lincoln Park, New Jersey, USA) for the Zoo passage (no nasal consonants passage) to determine the presence of nasality. Occasional nasal airflow was observed. Inspiratory capacity was measured on an incentive Spirometer (Hudson CI, USA) and was found to be reduced.
Based on the idea of the Assessment of Intelligibility of Dysarthric Speech (assess) (), a similar assessment was performed in which one experienced speech-language pathologist and another linguist orthographically transcribed the single words on section 8 of the FDA-2, and words and reading passage on an Articulation test for calculations of the percent intelligibility scores. Total speaking rate (words per min; WPM) and intelligible words per min (IWPM) were computed in addition to the communication efficiency ratio (ACER), where ACER represents the ratio of IWPM to the mean rate of intelligible speech by a group of normal speakers. The normative data was obtained from a control group of 5 subjects in the same age range. CER was found to be reduced in this individual.


A 39-year-old woman presented to the emergency department with dyspnea of 1-month duration. The patient was a known case of asthma. On admission, she had a body temperature of 38°C, a blood pressure of 120/80 mm Hg, and a heart rate of 124 bpm. Physical examination revealed decreased breath sounds at lung bases with rhonchi. Her oxygen saturation level in ambient air was estimated at 89%. Given the coronavirus outbreak, nasopharyngeal and oropharyngeal swabs were immediately obtained, which indicated SARS-CoV-2 positivity.
Panel electrocardiography (ECG) showed sinus tachycardia with nonspecific ST-T wave changes (Figure ). Additionally, the level of high-sensitivity troponin I (hs-TnI) was elevated (0.54 µg/L; cut point <0.03 µg/L). Transthoracic echocardiography demonstrated severe left ventricular (LV) systolic dysfunction (ejection fraction = 30%), associated with akinesia at the mid-to-apical portions of the anteroseptal and inferoseptal regions and hypokinesia in the other LV segments. There was no evidence of ventricular dilation and valvular abnormality. Also, we observed a mobile clot attached to the inferoapical LV portion, together with mild pericardial effusion (Figure B and C). Chest CT depicted severe multifocal consolidation and ground-glass opacity in both lungs (Figure D).
In the primary center, anticoagulation therapy (enoxaparin 60 mg BID, followed by apixaban 5 mg BID at discharge) and heart failure treatment (captopril 25 mg BID and spironolactone 25 mg QD, followed by carvedilol 3.25 mg BID after lung congestion reduction at discharge) were administered. Lopinavir/ritonavir was prescribed for COVID-19 treatment under the supervision of an infectious disease specialist. Electrolytes were monitored during the admission and periodically after discharge.
Two months after discharge from the primary center, the patient was referred to our tertiary referral center for cardiac evaluation. CMR revealed myocardial edema, predominantly in the septal wall, and hyperemia (evidenced by early gadolinium enhancement sequences). Extensive patchy myocardial fibrosis with subepicardial, midwall, and subendocardial involvement in different LV segments (not in a specific vascular territory) was depicted on LGE sequences (Figure A-D). Pulmonary CT after 2 months showed substantial resolution in opacities despite notable cardiac involvement (Figure E). Also, computed tomography angiography (CTA) was performed to rule out coronary artery disease (CAD), which showed normal epicardial coronary arteries (Figure E-G).
Therefore, a diagnosis of active myocarditis due to SARS-CoV-2 infection with a unique involvement pattern was established. Given the patient's challenging condition, she was referred to a heart failure specialist for heart failure treatment, to be followed by another CMR 1 month later.


The patient was a 31-year-old man, who had a history of bicuspid aortic valve with severe aortic valve insufficiency, preserved cardiac function (ejection fraction = 50%-55%), and severe LV enlargement in the preceding year. He had refused to undergo valve replacement surgery.
On presentation to our center, the patient had dyspnea, atypical chest pain, a low-grade fever, and coughs. Additionally, he had a body temperature of 38°C, a blood pressure of 135/55 mm Hg, and a heart rate of 95 bpm. Physical examination was unremarkable, except for basal lung rales and 3/6 diastolic murmurs in the second intercostal space. ECG illustrated evidence of LV hypertrophy (Figure A).
Laboratory evaluation revealed an elevated hs-TnI level (0.32 µg/L), combined with a lymphocyte count of 1100/µL. Additionally, RT-PCR through pharyngeal swab specimens was positive.
Transthoracic echocardiography showed severe LV systolic dysfunction (ejection fraction = 10%-15%) and enlargement, severe hypokinesia in all LV segments with preserved tissue, a bicuspid aortic valve (fusion of the left and right coronary cusps) with subsequent severe aortic valve insufficiency, holodiastolic flow reversal in the descending thoracic aorta and the abdominal aorta, and a dilated ascending aorta (Figure B-E). In comparison with the previous echocardiography report, documented a year earlier, a meaningful decline in the ejection fraction without a notable change in LV volume was recorded.
Chest CT depicted peripheral pulmonary ground-glass opacity and consolidation (Figure A). CMR was carried out for precise evaluation of the cause of the ventricular dysfunction. Similar to CASE 1, there was evidence of myocardial edema, and hyperemia along with extensive myocardial fibrosis in the subepicardial, midwall, and subendocardial regions (Figure B-D). CTA was performed to rule out CAD, which revealed normal epicardial coronary arteries (Figure ).


A 71-year-old man underwent esophagogastroduodenoscopy (EGD) during a medical checkup. Endoscopic examination showed a slightly reddish and flat elevated lesion on the greater curvature of the gastric upper body (), although the histological findings of the specimens obtained by an endoscopic biopsy showed a non-neoplastic change. During the medical checkup, the patient underwent EGD 8 times without biopsy, and the endoscopic morphology was unchanged before H. pylori eradication. He then received H. pylori eradication therapy due to a history of H. pylori-associated gastritis 10 years after the first endoscopy. Endoscopy after H. pylori eradication revealed a depressed area at the center of the tumor that corresponded to 0-IIa+IIc based on the Paris classification (). After H. pylori eradication, he underwent EGD 5 times and 1 biopsy, resulting in the diagnosis of a non-neoplastic lesion.
Fifteen years after the first endoscopy, he was referred to our institution for endoscopic submucosal dissection (ESD) of the gastric lesion because the lesion was suspected to be a malignant tumor due to morphological change. Physical examination revealed no abnormal findings. The patient's blood test results were within normal limits, including carcinoembryonic antigen and cytokeratin 19 fragment levels. The patient was negative for serum immunoglobulin G antibody and stool antigen for H. pylori because of his history of H. pylori eradication. Computed tomography showed no evidence of lymph node metastasis. EGD showed a reddish and protruding lesion, which was classified as type 0-I (). Chromoendoscopy revealed a roughly villous structure and a well-demarcated line around the 0-I lesion (). ME-NBI showed a microsurface pattern of irregular villous and partially absent structures with a demarcation line and microvascular pattern of an irregular network (). Based on these endoscopic findings, we diagnosed the tumor as an intramucosal well-differentiated adenocarcinoma and successfully removed the tumor en bloc using ESD.
Regarding the histological findings, hematoxylin and eosin staining revealed an irregularly shaped tubular structure resembling the fundic gland and foveolar epithelium with no submucosal or lymphovascular invasion (). The tumor surface was covered with atypical foveolar epithelium with mitotic figures on a high-power view (). On immunohistochemistry, pepsinogen-I, MUC6, and H+/K+ ATPase, which indicate differentiation toward the fundic gland (chief cells, mucous neck cells, and parietal cells), and MUC5AC, which indicates differentiation toward foveolar epithelium, were positive in the tumor cells (). The MIB-1 labeling index (MIB-1 LI) was 5.1% (). As a result, the lesion was diagnosed as intramucosal GA-FGM. The patient was discharged 5 days after treatment with no complications.


A 69-year-old Chinese woman presented with severe neck pain and limitation of rotative activity for 2 mo.
The patient noticed intermittent neck discomfort 10 years ago, which improved after rest and became aggravated after activity. Two months ago, the neck pain aggravated suddenly.
The patient complained about neck discomfort for > 10 years but did not go to the hospital or take any medication. There was no significant change in body weight for 10 years.
She denied any personal or family history of other diseases.
Physical examination revealed localized tenderness on the cervical spine. The strength of both upper limbs was normal, while the sensation of both hands decreased. No sensory loss of the lower extremities was noted, and muscular tension was normal. Pathological signs were negative, and no hyperactivity of tendon reflex was found. The spinal instability neoplastic score was 8.
Hemoglobin, calcium and creatinine were normal. C2 biopsy showed multilobe mature plasma cells with no histopathology. No tumor cells were found in the bone marrow 1 year postoperatively (Figure ).
X-rays showed mild cervical kyphosis and cystic lesions in (CK1) C2. Computed tomography (CT) reconstruction revealed bone destruction in the pedicle of C2 with absence of the posterior wall. Magnetic resonance imaging showed a high signal mass on the right side of the C2 with clear margin. No lymph node metastasis was found in the magnetic resonance imaging. Cervical disc herniation could be found in C4-6, while no garrulous blade or swollen discs were observed toward the spinal cord in C2 (Figure and ). Single photon emission CT/CT showed high bright signal intensity in C2 and the teeth (Figure ).


Our case was a healthy two years eight months old boy, presenting with high fever and seizure to the Emergency Room of Dr. Cipto Mangunkusumo Hospital. Allo-anamnesis suggested that patient had generalized tonic-clonic seizure lasting for about 5 minutes at home around 30 minutes prior to second episode of seizure with the same characteristic at the emergency room, in which patient was unconscious in between seizure episodes. Upon admission the Glasgow Coma Scale was 9, work of breathing was increased with a respiratory rate of 60/min, heart rate of 175/min, cold extremities, capillary refill time (CRT) >2 seconds, blood pressure 90/60 mmHg, and rectal temperature of 40oC. Both pupils were isochoric (3 mm/3 mm), the conjunctiva was pale. Lung auscultation revealed rales on both lungs. Meningeal signs were negative, and focal neurological deficit was not found. The remaining physical examination findings were unremarkable. There was no history of severe illness, nor a family history of similar disease. The patient was resuscitated and got an early cephalosporin injection (cefotaxime 4 x 600 mg) as suggested by the surviving sepsis campaign []. Phenobarbital and valproic acid were given to control seizures.
Laboratory examinations revealed normal Blood Gas Analysis (BGA), anemia (Hemoglobin (Hb) 7.7 g/dL), thrombocytopenia (81,000/mm3), leukopenia (2,560/mm3) with differential count showing mild neutrophilia (78.5%). Lactate was increased (3.1 mmol/L) and procalcitonin was spiking (95.47 ng/mL). The electrolyte analysis result showed hypokalemia (2.56 mEq/L). Samples from blood, urine, sputum, and cerebrospinal fluid were collected for microbial investigation. Urinalysis revealed normal. CSF analysis showed the following characteristics: clear, colorless, total cell count was 30/mm3 (segmented neutrophil 27/mm3 and lymphocytes 3/mm3), protein 7 g/dL and glucose 76 mg/dL, with negative Nonne and Pandy tests. Radiographic findings showed minimal lung pathology.
Sputum culture was positive for Pseudomonas aeruginosa and was sensitive to cephalosporin given. No growth was found for urine, blood and CSF cultures. Serial peripheral blood, BGA, electrolyte analysis were performed along with coagulation analysis, liver, and kidney function tests. The child was unstable. Later on his liver function deterioriated, (ALT (Alanine aminotransferase) 520 U/L and AST (Aspartate aminotransferase) 505 U/L) most likely attributed to his septic condition.
On day-35 of hospitalization, he developed an acute gastrointestinal injury. The abdomen was distended, with no bowel sound, and bilious gastric tube. On day 37 he developed disseminated intravascular coagulation (DIC) with excessive bleeding from the upper gastrointestinal tract (hematemesis). Hemoglobin level was decreased to 8.56 g/dL, and platelets count was reduced to 87,200/uL, prothrombin time (PT) and activated partial thromboplastin (aPTT) time were prolonged. On day 39 the patient eventually succumbed to illness due to severe bleeding from DIC (disseminated intravascular coagulation).
With a differential diagnosis of Enterovirus infection, a set of sample (nasal swab, throat, and rectal swab) collected five days after admission stored in viral transport medium as well as CSF were sent to Eijkman Institute for Molecular Biology for viral testing and tested by real-time reverse transcriptase polymerase chain reaction (qRT-PCR) for Enterovirus group and Enterovirus 71 following published methods []. RNA from polio virus (OPV) was used as positive control for Enterovirus panel assay. Results revealed no detectable cycle threshold (Ct) for Enterovirus 71 in all samples. For Enterovirus group, Ct for rectal swab, nasal swab, throat swab and CSF were 22.7, 29.6, 30.89 and 35.26 respectively showing amplification for Enterovirus genome.
Sequencing of VP1 gene was performed using method previously described by Leitch et al [] An amplification of 946 bases was produced and sequenced. Results revealed the virus genome sequence shared 91% homology with the Echovirus-7 strain previously isolated in Malaysia []. We then administered our nucleotide sequence under GenBank Accesion number MK993376.


A 62-year-old male was diagnosed with prostate cancer in July 2013. His initial prostate-specific antigen (PSA) was 11.5 ng/ml, and bone scan was normal. He underwent high-intensity focused ultrasound and channel transurethral resection of prostate (TURP). Microscopic examination of channel TURP chips showed prostatic acinar adenocarcinoma and Gleason score of 9 (4 + 5). He was started on hormone therapy (goserelin acetate). His PSA reduced up to 0.102 ng/ml. On follow-up, he presented with hematuria and difficulty in passing urine in February 2017. His PSA level was 13.2 ng/ml. A 68Ga-PSMA PET/CT was performed which revealed PSMA-avid lesion in the prostate with infiltration in the bilateral seminal vesicles, posterior urinary bladder wall, and anterior rectal wall (maximum standardized uptake value [SUVmax] 8.9). Focal PSMA uptake was also noticed in the right testis (SUVmax 10.4) and fifth lumbar vertebra []. Ultrasound of the scrotum showed a hypoechoic lesion in the right testis with internal vascularity []. The patient underwent bilateral orchiectomy, and the final histopathology confirmed right testicular metastasis. The left testis and epididymis were free of tumor. He was further treated with antiandrogen (bicalutamide) and developed disease progression within 12 months.


A 77-year-old male was recently diagnosed with prostate cancer with a Gleason score of 9 (5 + 4) and PSA level of 79.38 ng/ml. A pelvic contrast magnetic resonance imaging revealed prostate lesion with the involvement of the bilateral seminal vesicles and bladder neck. Bone scan was normal. In view of high PSA level, he was referred for 68Ga-PSMA PET/CT to look for any site of metastasis. PET/CT scan revealed PSMA-avid prostate lesion involving bilateral seminal vesicles (SUVmax 57.0), a right external iliac lymph node (size 1.0 cm × 0.9 cm, SUVmax 14.4), and focal PSMA uptake in the right testis (SUVmax 12.8) []. A mild focal PSMA uptake was also seen in the right iliac bone (SUVmax 3.2). In view of oligometastasis with locally advanced disease, the patient was started on hormone treatment.


A 69-year-old male, diagnosed with prostate cancer, underwent open radical prostatectomy in October 2012. Histopathology was prostatic acinar adenocarcinoma Gleason score of 7 (4 + 3) with pelvic lymph node metastasis (pT3bN1). Subsequently, he was treated with hormone (goserelin acetate). On follow-up, his PSA started rising and reached to 0.456 ng/ml in September 2017. 68Ga-PSMA PET/CT scan showed mild PSMA-avid thickening in the prostatic bed and a subcentimeter left external iliac lymph node (SUVmax 2.5). In view of biochemical recurrence, he was further treated with image-guided radiotherapy, and post therapy, his PSA reduced to 0.076 ng/ml. On follow-up, he again presented with raised PSA 3.0 ng/ml in February 2020. 68Ga-PSMA PET/CT revealed focal PSMA-avid (SUVmax 24.2) lesion in the left testis []. Ultrasound of the scrotum showed a hypoechoic lesion in the left testis []. He was advised for bilateral orchiectomy, however the patient refused to undergo surgery. He was started on hormone treatment.


A 58-year-old male reported to our department with pus discharge in the right maxillary posterior teeth for 6 days. Family history revealed nonconsanguineous marriage of parents, and he was the youngest among siblings and was only affected child among them. The patient was treated for osteomyelitis of the left posterior body of mandible 1½ years back following traumatic extraction of associated teeth. After treatment, the patient was asymptomatic and lost to follow-up. He had history of frequent long bone fractures. Drug, medical, and family history were noncontributory. The patient was conscious cooperative, well oriented to time, place, and person. All vital signs and parameters were within the normal limit.
On general physical examination, the patient was well built and nourished with short stature, short fingers, and toes. Various facial features were frontal bossing, beak-shaped nose, and proptosis of bilateral eyes. Oral findings were complete edentulous maxillary and mandibular arches, intraoral draining sinus was present with the right maxillary 3rd molar region. The patient had narrow palate with deep groove and macroglossia [Figure -].
Based on the history and clinical presentation, a provisional diagnosis of bone dysplasia was made and differential diagnosis of osteogenesis imperfecta, cleidocranial dysostosis, osteopetrosis, and pycnodysostosis was made [].
The various base line investigations such complete blood count, random blood sugar, liver function test, and kidney function test were done along with serum alkaline phosphatase enzyme to rule out other bony disorders, and culture sensitivity of pus was done. All blood investigations were within normal limits. Under radiological examination, panoramic radiograph (orthopantomogram [OPG]), skeletal survey, and noncontrast computed tomogram (NCCT) head and neck were performed. OPG revealed an ill-defined osteolytic lesion involving the right posterior maxillary alveolus, atrophy of alveolar ridges, and generalized increase in bone density. NCCT revealed marked atrophy of alveolar arches of maxilla and mandible with increased bone density; a destructive lesion was present in the right side of maxilla with sclerosed bone surrounded by a rim of radiolucency suggestive of bony sequestrum. Complete opacification of the ethmoid sinuses and partially pneumatized sphenoid sinuses with thickening, sclerosis, and remodeling of were seen. Widening of cranial sutures, obtuse bilateral mandibular angles were seen on anteroposterior and lateral skull views and NCCT images. Multiple healed fractures of the ribs and bilateral shaft of tibia were noticed; bilateral clavicles were shortened with hypoplasia of lateral ends. The hand-wrist radiograph showed increased bone density with mild acro-osteolysis of distal phalanges and dislocation of metacarpophalangeal joint of the right thumb [Figure - and ].
Based on clinical and radiological findings, a final diagnosis of pycnodysostosis with osteomyelitis of maxilla was made.


A 71-year-old left-handed man was brought to the emergency department with the complaints of drowsiness and confusion. He had underlying alcoholic liver cirrhosis and traumatic cerebral hematoma and subarachnoid hemorrhage in the right frontotemporal area. He had taken 15 mg of flurazepam for 2 days to relieve insomnia. He could speak when he presented to the emergency department, but he was drowsy, confused, and disoriented. Deducing benzodiazepine toxicity, 0.5 mg of flumazenil was administered to reverse the symptoms. He subsequently became alert but could not speak properly; he could only say “eung” (“yes” in Korean) and “ireum” (“name” in Korean). He could not obey any command given by medical personnel. The serum level of ammonia, creatinine, and total bilirubin were 98 µg/dL (normal value: less than 86 µg/dL), 0.7 mg/dL (normal value: 0.6-1.2 mg/dL), and 0.6 mg/dL (normal value: 0.2-1.2 mg/dL), respectively. Clinically, asterixis, myoclonus, and jaundice were absent. Despite treatment with a lactulose enema, the symptoms persisted.
After consulting the Department of Neurology, electroencephalography (EEG) and brain magnetic resonance imaging (MRI), including diffusion-weighted imaging (DWI), were performed. On EEG, continuous seizure activity was observed in the right frontotemporal area, including continuous periodic sharp waves intervened by rhythmic activity with spatiotemporal evolutions ( and ), which met the Salzburg Consensus Criteria for NCSE, including periodic epileptiform discharges (PEDs) with rhythmic activity with spatiotemporal evolutions. The patient showed continuous aphasia with confusion during the recording period (30 min). Brain MRI, including DWI, was performed 18 h after visiting Emergency Department, which revealed high signal intensities with diffusion restriction in the right insular cortex ( and ). An apparent diffusion coefficient (ADC) map showed low signal intensities in the area of diffusion restriction (). Subsequently, he was treated with controlled-release carbamazepine (loading dose of 600 mg, followed by maintenance doses of 200 mg twice a day) and levetiracetam (1500 mg twice a day). He recovered gradually and become nearly free of aphasia after 2 weeks of treatment. The seizure activity normalized, except for inter-ictal spikes in the right temporal area (, arrowheads). The follow-up brain MRI, which was performed 2 months after the initial evaluation, was also normal (). The patient remained symptom-free for 3 years.


A 56-year-old right-handed woman was brought to the emergency department with the complaints of recurrent speech arrest of 2 to 3 minutes’ duration. After such incidents, she could remember the events and told her daughter that she wanted to speak but could not make any sound. During those events, she could understand her daughter’s speech. While being examined at the emergency department, she developed motor aphasia of 2 to 10 minutes’ duration more than 10 times. Between those events, she was alert and remembered the speech of the medical personnel.
Routine blood tests revealed a blood glucose level of 546 mg/dL (normal value: 70-110 mg/dL) and a serum osmolality of 309 mMol/L (normal value: 285-295 mMol/L). The levels of serum electrolytes, ionized calcium, blood urea nitrogen, and creatinine were within normal limits. Ketone bodies were not detected in her serum or urine. Her hemoglobin A1c level was 9.5% (normal value: 4.0%-5.8%). However, she had not been previously diagnosed with diabetes mellitus. On brain MRI, including DWI, no abnormal findings were observed. Recurrent ictal activity was observed in the left frontotemporal area on EEG ( and ); rhythmic delta activity with spatiotemporal evolutions that gradually ceased was observed. The EEG findings met the Salzburg Criteria for NCSE. Background rhythm showed normal activity without any inter-ictal epileptiform discharges. Rhythmic activity was observed 7 times during the recording period (30 min). The patient was continuously aphasic during this period.
Despite the administration of fosphenytoin (loading dose of 20 mg phenytoin sodium equivalent per kg and maintenance doses of 5 mg phenytoin sodium equivalent per kg), the symptoms persisted. After strict glucose control with insulin, her symptoms and EEG abnormalities disappeared in a day (). Fosphenytoin was discontinued from day 7 of administration. The seizures did not recur during the 6-month follow-up period.


An 82-year-old right-handed woman developed speech disturbance a week before visiting the Department of Neurology. During the neurological examination, she was alert and could obey one-step verbal commands. However, she could not speak spontaneously. Physical examination revealed no abnormalities. Her medical history, as reported by her husband, revealed that she had experienced a gradual decline of memory and cognition over the past year, but she could speak with other people and perform normal activities without any difficulty until a week previously.
Routine laboratory tests revealed no abnormalities. On EEG, intermittent rhythmic delta activity superimposed by quasi-rhythmic fast activity was observed in the frontotemporal area bilaterally, with fluctuating frequency and amplitude (), which was compatible with possible NCSE. The patient was continuously aphasic during the recording period (30 min). On brain MRI, diffuse atrophy of the cerebral cortex was observed ( and ). The symptoms and EEG abnormalities disappeared in a day after the administration of valproate (loading dose of 25 mg per kg and maintenance doses of 6 mg per kg) (). She could remember nearly all events during the seizure periods. Brain single-photon emission tomography performed after the control of ASE showed decreased perfusion in the left frontotemporal area (). Her score on the Korean version of the Mini-Mental Status Examination (K-MMSE) was 19 (0/3 in memory registration, 1/5 in attention and calculation, 0/1 in repetition, 4/5 in time orientation, and 3/5 in place orientation), and her Global Deterioration Scale (GDS) score was 4. A detailed neuropsychological test (Seoul Neuropsychological Screening Battery) showed global deterioration, particularly in the domains of memory registration, language, and frontal executive function, which was compatible with Alzheimer’s disease. The patient was seizure-free for 5 years after discharge, but her cognitive function gradually declined to a severe state of dementia. Follow-up K-MMSE and GDS scores were 3 and 6, respectively.
The clinical features of our patients are summarized in .


A 21-year-old male presented to orthopedic outpatient department with a history of the left hip pain for 1 year, following a trivial fall before 1 year. The patient was not able to do heavy strenuous activities such as running, jumping, and other sports activities. Terminal range of movements were painful. FABER test was positive. The patient was able to raise his leg actively. Radiograph left hip revealed a radiolucent swelling along inferior part of neck with a well-defined, eccentric osteolytic lesion involving subcapital region of the left femoral neck. The lesion was oval shaped and without any calcification or periosteal reaction ().
Magnetic resonance imaging (MRI) suggested of cystic lesion involving synovial lining near head-and-neck junction of the left femur ( and ).
Under regional anesthesia, with patient in supine position, the lesion was approached through smith and Peterson approach to the left hip. After cutting the left hip capsule in T shape and pulling the hip in flexion abduction and external rotation, the lesion was found. It contained rubbery and gelatinous material along synovial lining of inferomedial capsule with slight erosion of inferior neck. Curettage of the lesion was done. The bone defect was not found to be large enough to be filled with bone graft. Histopathological examination showed lobular pattern with stellate to spindle-shaped cells on the myxoid background (). Few osteoclast type of giant cells were found in the periphery of the lobules. Tumor cells had oval- to spindle-shaped nucleus with surrounding densely eosinophilic cytoplasm within a myxoid background. It was consisted with fibromyxoid chondroma.
In post-operative period, isometric quadriceps exercises were started on the same day of surgery. Knee and ankle range of movement exercises were started since the next day of surgery. He was discharged after 2 days with non-weight-bearing walking with walker support. He was followed at 4 weeks, 8 weeks, and 3 months. The patient was allowed on full weight-bearing from 2 months. He has a painless gait with no complications or recurrence till date.


A 56-year-old female came in outpatient with chief complaints of low back pain radiating to both but-tocks, burning sensations to both lower limbs. She had a claudication distance of <100 m. She also complained of weakness in both feet and difficulty to put footwear. Her back VAS was 7 and leg VAS was 8. Her ODI was 74. She gave a history of constitutional symptoms such as loss of weight and appetite. Trial of conservative management was given at multiple hospitals.
Clinical examination revealed bilateral SLR test positive at 30°. Her neurological examination showed grade 3 weakness in both toe and ankle dorsiflexors. Sensations across the bilateral L4 and L5 derma-tomes were reduced by 50%.
Her white blood cell count was 11,000, ESR was 10, and CRP was 45. Radiologically, lumbar spine X-ray () revealed pars discal osteopenia with decreased disc space between L5 and S1.
Magnetic resonance imaging (MRI) () revealed signal intensity changes suggestive of patchy marrow edema present over the L2 to S1 vertebra up to the upper two-third of the sacral ala, mid por-tion of sacrum, and right iliac bone with associated epidural, pre- and paravertebral soft-tissue exten-sion along bilateral psoas muscles suggestive of infective etiology rather than neoplastic.
While a nuclear positron emission tomography (PET) scan () showed an increase in radiotracer concentration involving L2-L5 vertebra, S1 vertebra, right Sacroiliac region, and right ilium, which favored a metastatic etiology rather than infection, leading to a diagnostic dilemma.
In view of persistent neurological deficit, pain, a team discussion with oncologists, infectious disease specialists, and orthopedic spine team, Magnetic resonance imaging (MRI) () revealed signal the final decision was made to do a surgical decompression and biopsy from the affected areas. Surgery was performed in the form of laminectomy and decompression by posterior approach and tissue was collected from the right sacral ala. As the pre-operative and intraoperative findings did not favor instability, no instrumented fusion was planned. Histopathological report showed negative metastasis. Microbiology was negative. The patient improved during post-operative period in terms of pain and mobility. VAS scores improved to 4. After 3 months’ post-surgery, the patient came back to the clinic with chief complaints of burning sensations in legs and inability to walk and stand for long with discharging sinuses over the back with the similar neurologi-cal profile.
X-ray () revealed diffuse osteopenia with patchy sclerosis and degenerative changes with lami-nectomy defects.
Contrast MRI (, , ) showed patchy areas of marrow signal abnormality L1, L2, L4, and L5 vertebra and adjoining endplates of L5, S1, and S2 segments. Ring enhancing lesions at L2, L3 levels. Enhancing hyperintense signals in posterior paraspinal muscles at L1-L2. Tiny enhancing lesions on the right ilium. PET scan (, , ) shows lytic areas over L2 to L5 vertebrae and sacral ala and ilium possibility of infective etiology more likely atypical Kochs/brucella/Fungal or any unusual bacterial infection. A progressively increasing in ESR and CRP directed toward an infective etiology. Tests for brucellosis were negative [].
The patient underwent repeat surgery in the form of revision decompression. Intraoperatively, there was a thick and hard epidural tissue engulfing the cord and the nerve roots. This unhealthy granulation tissue was carefully removed and sent for analysis. Histopathology (, ) revealed clumps of basophilic filamentous bacteria in a vaguely rosette-like configuration surrounded by acute inflam-matory cells, characteristic of actinomycosis.
The patient was started on intravenous penicillin G for 4 weeks and followed by oral penicillin for 2 weeks. Wound completely healed by primary intention by 2 weeks. The patient ambulated unassisted with back VAS of 2. Leg VAS reduced to 1.
After 6 weeks, ODI was 16, X Rays () showed reduced osteopenia, and MRI showed a signifi-cant reduction in marrow signal abnormalities in lumbar and sacral areas (, , ).
At 6 months, we reviewed the patient again. He had complaints of back pain, but the examination did not reveal any positive findings.
At 12 months, the patient was asymptomatic.


The patient was a 67-year-old female with a history of Type 2 diabetes, hypertension, systemic sclerosis and Sjögren syndrome for which she used metformin, lisinopril, long-acting insulin, a statin and acetylsalicylic acid. During outpatient controls, she had normal kidney function, electrolytes and acid–base parameters. She presented with lymphadenopathy and was diagnosed with Epstein–Barr virus-positive diffuse large B-cell lymphoma. She was referred for treatment in a Phase IB/II, open-label study with venetoclax [].
One day prior to chemotherapy, she received prophylactic allopurinol (300 mg for 10 days). Treatment started with rituximab (510 mg), vincristine (1.9 mg), doxorubicin (68 mg), cyclophosphamide [1020 mg, all intravenous (i.v.) on Day 0] and prednisolone (100 mg, orally on Days 0–4) (R-CHOP). One day after chemotherapy (Day 1), she received pegfilgrastim (6 mg). Venetoclax (800 mg/day orally) was started on Day 3. On Day 6, she developed febrile neutropenia due to pneumonia, for which meropenem and normal saline were started. On Day 7, a routine laboratory test revealed severe hypokalaemia (serum potassium 1.9 mmol/L), hypocalcaemia and hypophosphataemia. These laboratory values were confirmed by subsequent measurements to exclude a technical error. The majority of the electrolyte disorders were characterized by increased urinary excretion. During hypokalaemia, spot urine potassium was 30 mmol/L and the transtubular potassium gradient (TTKG) 11.3. The fractional excretions of phosphate (46%) and magnesium (6.3%) were increased. In contrast, hypocalcaemia was accompanied by hypocalciuria (urine calcium/creatinine 0.07 mmol/mmol) with low 25-hydroxyvitamin D (27 nmol/L) and high parathyroid hormone levels (45 pmol/L). Other laboratory results showed new-onset proteinuria (1.5 g/day) with elevated β2-microglobulin excretion (18 mg/day) and high sodium chloride excretion (237 and 252 mmol/day, respectively). Acid–base balance remained normal.
Although the patient had no symptoms , the electrocardiogram showed premature atrial contractions, flattened T-waves and a U-wave configuration in V1. I.v. supplementation of potassium, phosphate, magnesium and calcium was started (). Because venetoclax was considered as the offending drug, it was discontinued prematurely on Day 7. Electrolytes remained normal after discontinuation of i.v. supplementation. No other explanations for the electrolyte disorders were identified . Chemotherapy was continued 1 month later (R-CHOP without venetoclax).


A 60-years-old lady presented with seizures leading to status epilepticus and left-hemiparesis for 3 days. She had left face/arm clonic seizures spreading to other side every few minutes. She had received lorazepam, loading dose of phenytoin sodium, levetiracetam, sodium valproate, and clobazam. In view of lower lobe pneumonia and sepsis, she was intubated and mechanically ventilated. She did not respond to midazolam (0.3 mg/kg/h). After 2 days of initiating classic KD, ketosis and seizure cessation were achieved. The KD was gradually weaned over 18 days. At 1 month, she was seizure free on phenytoin sodium and clobazam.


A 27-year-old man presented with headache, vomiting, and altered behavior for 5 days. On fifth day, he developed generalized tonic–clonic seizures that evolved to status epilepticus. He received diazepam, lorazepam, loading dose of phenytoin, levetiracetam, and lacosamide over next 5 days. He was referred to us on midazolam infusion (0.3 mg/kg/h). On examination, his consciousness was 8/16 (FOUR score), no focal weakness, and extensor planters. His seizure continued despite thiopentone sodium (5 mg/kg bolus followed by 5 mg/kg/h infusion). In view of new-onset refractory status epilepticus and white-mater hyperintensities on MRI, he was given methylprednisolone (1 g/day) for 3 days with no response. On day 14, he was initiated on KD that improved his seizures. Patient remained seizure free on levetiracetam and clobazam. He was successfully weaned from KD over 18 days. Autoantibody panel and repeat cranial MRI were normal.


A 24-year-old male, a known case of Lennox–Gastaut syndrome, developed generalized status epilepticus for 1 day after missing his antiepileptic drugs. Midazolam infusion (0.3 mg/kg/h) produced only transient seizure freedom. From day 2 of status epilepticus, patient was given KD (4:1). On day 5, patient had complete cessation of seizures. He is seizure free for 1 month on KD, sodium valproate, levetiracetam, and clobazam.


A 7-year-old boy, a known case of postencephalitis sequalae (minimal conscious state and epilepsy) for 6 months, presented with generalized tonic–clonic status epilepticus for 6 days. Before visiting us, he had received lorazepam, levetiracetam, phenytoin sodium, oxcarbazepine, and clobazam. The child was not arousable. The family refused the use of intravenous anesthetic agents. He was started on KD (4:1); ketosis achieved on day 5, seizure cessation from day 7. The child is seizure free on KD, oxcarbazepine, and clobazam for 10 months.


A 63-year-old white woman with no significant past medical history was diagnosed as having a choroidal lesion on routine ophthalmic examination and was referred for further evaluation to our hospital. On examination, her visual acuity in both eyes was 20/20 (Snellen’s). No significant finding was observed on anterior segment examination. Intraocular pressure was 14 mmHg bilaterally. She had no afferent pupillary defect and had normal color vision and brightness perception in both eyes. No cells or flare in the anterior or posterior segment were observed. On dilated exam, the left fundus was normal (). Examination of the right fundus revealed a round deep yellow-white mass without visible subretinal fluid, 1.25 mm in diameter, located in the peripapillary area, inferonasal to the optic disc (). Fundus autofluorescence showed mild intrinsic hyperautofluorescence (). Ultrasonography B showed acoustic solidity but failed to show an elevated lesion. There was no evidence of calcification within the mass (). Swept source (SS) imaging optical coherence tomography (OCT) (Triton Plus DRI–OCT; Topcon Medical Systems, Inc.) disclosed an intrascleral shape mass with round configuration and visible posterior margin that was associated with compression of overlying choroidal layer. The choroid was almost absent at the apex of the mass (). No retinal thickening, or exudates were noted. In OCT angiography (OCTA), choriocapillaris flow impairment was seen overlying the SIC lesion. OCTA images show an avascular lesion (). ESR, serum calcium and ACE levels were within normal limits. Mantoux tests were normal. These features were consistent with inactive SIC. The patient refused fluorescein angiography.


An 11-month-old male infant, who was born at term weighing 2850 g after an unremarkable pregnancy, presented to our outpatient department with recurrent episodes of fresh bleeding per rectum for the past 2 months. The bleeding was episodic, 10–12 teaspoons/day and required blood transfusion. There was associated history of chronic diarrhea for which the child was evaluated elsewhere and was prescribed formula feeds and oral rehydration solution. There was no history of jaundice, hematemesis, vomiting, fever, inconsolable cry, or protrusion of mass per rectum.
On examination, the child was malnourished and had gross pallor with no icterus. His vitals were stable and systemic examination revealed mild splenomegaly with a span of 5 cm along its axis. On auscultation, no bruit was heard over the liver or enlarged spleen. Local examination revealed no fissure, rectal polyp, or prolapse. Liver function tests and prothrombin time were normal. Ultrasonography of the abdomen, which was done elsewhere, revealed splenomegaly and a dilated portal vein. Subsequently, a contrast-enhanced computed tomography (CECT) scan of the abdomen [] confirmed the above findings with the presence of an arterioportal fistula between the left hepatic artery and left branch of portal vein. An accessory left hepatic artery was also seen arising from left gastric artery. Liver parenchyma showed normal attenuation and enhancement and there was no ascites.
The child underwent CT-angiography and selective embolization of the fistula [] after initial optimization. Vascular access was achieved via trans-arterial route from right femoral artery. During the procedure, the main trunk of left hepatic artery and left branch of portal vein were communicating through a very short arterioportal fistula. Vascular plug (amplatzer© COOK MEDICAL) was used for embolization of the fistula. Post embolization, he had an uneventful recovery and was discharged after 48 h. At the time of discharge, the CECT and liver function tests were normal. Follow-up CECT scan [ performed at 6 months was unremarkable without out any recurrence/persistence of the fistula with normal enhancement of the liver. After 1 year of follow-up, the child is asymptomatic and achieving milestones according to his age.


A 10-year-old girl with no known medical issues presented to her primary care physician in October 2016 with complaints of left thigh and knee pain. The pain had been present for 1 month and was slowly getting worse. A radiograph was taken and a lesion was noted in the distal femoral metaphysis. The radiographs of the femur were concerning for an osteosarcoma, demonstrating a lytic lesion with an osseous matrix and an incomplete periosteal reaction. Immediate referral was made to an orthopedic oncologist, who saw her the next day. Magnetic resonance imagings (MRI) of the left femur was performed; the MRI correlated with the radiographs, corroborating aggressive features, including heterogeneous signal, contrast enhancement, soft tissue extension of the mass, and peritumoral edema. The patient was taken to the operating room for an open biopsy. Intraoperative pathologic assessment on frozen sections was consistent with osteosarcoma: pleomorphic spindle cells with nuclear atypia and associated osteoid. Staging was completed with computed tomography (CT) of the chest and a whole-body bone scan. The chest CT demonstrated two 1-mm nodules of indeterminate significance and the bone scan showed uptake only in the left femur. The final pathology confirmed the diagnosis of conventional osteosarcoma. The case was presented at the multidisciplinary sarcoma tumor board, and the patient began neoadjuvant chemotherapy 2 weeks after initial presentation. The multiagent cytotoxic treatment regimen proceeded according to the Children's Oncology Group AOST 0331 protocol, including doxorubicin, cisplatin, and methotrexate. The patient completed the full neoadjuvant course and was restaged with an MRI of the femur, with and without contrast, and a CT of the chest. Restaging revealed stable disease in the distal femur, albeit with a small pathologic fracture, and resolution of the two 1-mm nodules in the lungs, without development of any new nodules. Seventeen weeks after starting chemotherapy, the patient underwent local control with wide surgical resection and endoprosthetic reconstruction with a metallic distal femur replacement. Surgical pathology revealed widely negative surgical margins with >2 cm of surrounding uninvolved tissue and 90% necrosis. Chemotherapy was resumed per the AOST 0331 guidelines 3 weeks after surgery. The patient completed the course of chemotherapy 10 months after starting treatment, tolerating treatment with minimal interruptions. End-of-therapy scans were completed, revealing no observable disease on local imaging of the femur (radiographs), imaging of the lungs (CT), nor distant, nonpulmonary sites (positron emission tomography [PET]-CT).
The patient began surveillance every 3 months per the National Comprehensive Cancer Network guidelines for osteosarcoma []. Six months after completion of chemotherapy, 16 months after initial presentation with knee pain, the patient presented to the medical oncologist with abdominal pain. The pain had started 2 months previously and had initially been minor, so it had been treated symptomatically at home. On CT of the chest, a portion of the abdomen could be seen, revealing fluid around the spleen and liver, as well as two enlarged pericardial lymph nodes and a 2-mm nodule in the lung. Given the abdominal pain and the CT chest findings, a contrasted CT of the abdomen and pelvis was obtained by her medical oncologist. The abdominal CT demonstrated a large left lower quadrant mass (13 × 11 × 10 cm) with mineralization, a smaller adjacent mass, multiple masses throughout the abdominal cavity, and ascites (Fig. ). Four days later, a biopsy performed in the Interventional Radiology suite confirmed the diagnosis of metastatic osteosarcoma to the abdomen. The institution's Sarcoma Tumor Board decided that the burden of disease was too extensive for surgical intervention and considered palliative radiation and/or chemotherapy. However, the symptoms rapidly declined with suspected hemorrhage of the abdominal mass, resulting in hemodynamic instability. The patient was treated with supportive measures and entered hospice care. She died of disease 1 month after diagnosis of abdominal metastasis, 3 months after the onset of abdominal pain, 19 months after initial diagnosis of her disease.


An otherwise healthy 45-year-old man sought orthopedic evaluation in December 2014 after experiencing 2 years of worsening right thigh pain. MRI at that time displayed a large, heterogeneous, contrast-enhancing lesion involving the distal right femoral metadiaphysis extending through the cortex into the anterior compartment without skip lesions. The patient was referred to a comprehensive cancer center for evaluation by a dedicated, multidisciplinary sarcoma service. An open biopsy was then performed, providing a tissue diagnosis of fibroblastic osteosarcoma. A CT of the chest and a whole-body bone scan completed the staging. The chest CT revealed two 2-mm, indeterminate nodules in the lungs, and the bone scan demonstrated radionuclide absorption at the site of the distal femoral lesion alone. Two weeks after presentation to the cancer center, the patient began neoadjuvant chemotherapy with doxorubicin, cisplatin, and high-dose methotrexate. He completed the neoadjuvant chemotherapy regimen according to the AOST 0331 protocol and had restaging studies prior to planned local control with wide surgical resection and limb salvage. No new sites of disease were noted and the lung nodules were stable. Surgical resection and endoprosthetic reconstruction with a compressive osteo-integrative device (Compress, Biomet) occurred 4 months after initial presentation. Pathologic assessment of the resected specimen revealed high-grade fibroblastic osteosarcoma with 60% necrosis. Unfortunately, malignancy-positive surgical margins were identified, and the patient underwent revision resection 1 month later; the re-resected specimen was reported to be negative for residual tumor.
On the first postoperative surveillance scans, 3 months after local control, chest CT revealed multiple new lesions throughout the lungs bilaterally, consistent with metastatic osteosarcoma. These nodules were <6 mm in dimension and were therefore not amenable to biopsy. In light of the poor necrosis rate and the patient's poor tolerance of neoadjuvant chemotherapy but the development of pulmonary nodules, the potential benefit of continuing the AOST 0331 treatment was discussed. Alternatives were explored, including gemcitabine/doxetaxol, ifosfamide/etoposide, or pazopanib. Despite the presence of concerning pulmonary nodules, the patient opted to hold on to additional medical treatments until demonstration of further progressive disease. At this same time, the patient experienced a twisting mechanism of injury to the operative extremity, resulting in failure of the connection between the compress endoprosthesis device and the host bone. This was addressed surgically with revision of the orthopedic construct, changing the Compress device to a cemented, stemmed prosthesis.
Eight months later, 15 months after initial presentation, the CT demonstrated enlarging nodules, now numbering 12 lesions measuring 1–2 cm, and new interstitial edema. Concurrently, a mass was noted at the distal femur surgical site, concerning for local recurrence. Both the thigh mass and the pulmonary masses were biopsied, and were histologically consistent with osteosarcoma. The patient began pazopanib treatment, having refused more aggressive medical regimens due to prior intolerance of the AOST 0331 protocol. He tolerated pazopanib well and, after 6 months of pazopanib therapy, patient underwent LLL and LUL pulmonary wedge resections without complication. Pulmonary metastatic disease continued to progress, and the patient underwent RLL and RUL wedge resections 5 months after the left. Amputation of the lower extremity had been discussed with the patient, but was delayed until the end of medical treatment in order to assess disease response. During consultation for the above knee amputation, now 27 months after presentation, the patient complained of abdominal pain. On detailed history and physical exam, it was noted that he had been having fever for 3 days to 39°C, sharp abdominal pain, nausea, loose stools, decreased appetite, and insomnia. He was admitted to the hospital and a CT of the abdomen was obtained. It revealed peritoneal thickening, ascites, small bowel obstruction, omental stippling, hepatic lesions, and bilateral adrenal nodules (Fig. ). A biopsy of the colon at the hepatic flexure showed malignant cells within the lamina propria with similar morphology to the original osteosarcoma specimen. There was no overlying epithelial dysplasia or keratin expression within the cells, arguing against a new colorectal primary tumor. Biopsy of an omental nodule demonstrated similar histologic features, confirming metastatic osteosarcoma. Abdominal symptoms were addressed with colonic stenting and palliative paracentesis, but the patient declined precipitously and ultimately developed tachycardia, lactic acidosis, and leukocytosis, succumbing to sepsis 4 weeks after onset of abdominal pain, 28 months after initially presenting with thigh pain.


A 35-year-old woman presented to our center with a history of radicular pain for 8 months. Pain was radiating from the lower back to the left leg, accompanied by occasional tingling since January 2020. This complaint was getting worse, and the patient was very disturbed by August 2020. There were no autonomic disorders and weakness of the left leg muscles, and no history of trauma or injury.
Neurological examination revealed left sciatica. The leg muscle strength in flexion and extension of the left upper and lower limbs was normal. Abduction and adduction were normal. On sensory examination, there was mild hypesthesia along the left L5–S1 dermatome. The provocation test (Lasègue, Kernig, Bragard, and Sicard) was negative.
Electromyography results showed left neuropathic irritation at L4, L5, S1, and S2. The most severe was in the left L5 muscle, whereas it was light in L4 and S2. There was no evidence of denervation on electromyography.
Lumbosacral gadolinium-based contrast MRI in August 2020 showed a long solitary mass, with a completely cystic component, in the left foraminal zone of L5–S1, corresponding to the passage of the ischial nerve to the left ischial groove at the level of the left lateral presacral space with a lesion length of ±13.90 cm and a maximal diameter of ±1.91 cm. The mass was hypointense on the T1-weighted image and hyperintense on the T2-weighted image, and post-contrast showed a peripheral rim contrast enhancement. The mass caused severe stenosis of the left foraminal zone at the L5–S1 level. There was no attachment to the pelvic organs. We also used MR neurography, which can clarify the origin of a lesion and the course of nerves. In this case, MR neurography clearly showed the location of the mass in the sciatic nerve to the left ischial groove (Fig. ).
The patient was on conservative therapy, but the complaints were not reduced. Two months later, the patient underwent surgery to resect the tumor and rescue the involved nerve roots (Fig. ). A histopathological examination was performed (Fig. ). Then, an MRI evaluation was also carried out after surgery; only a small residual cystic mass was obtained (Fig. ). The patient recovered completely from the pain and there was no neurological deficit after surgery.


We report the case of a 55-year-old male patient having presented to the Yehuleshet Specialty Clinic (YSC) 6 years back with sudden-onset dysarthria and appendicular ataxia of 10 days duration. In addition, he reported having right hemibody weakness and blurred vision, which has significantly improved since then. He had a history of smoking of 30 pack-years. However, he quit smoking 8 years ago. His blood pressure and pulse rate were normal. Furthermore, he reported paresthesia of the left upper limb since recent times. There was no history of prior stroke, transient ischemic attack, diabetes, hypertension, head trauma, or dyslipidemia. On examination, he was fully conscious and oriented. He had horizontal left gaze palsy with horizontal nystagmus, suggesting left-sided 6th cranial nerve palsy. He had mild left-sided facial palsy causing dysarthric speech. Right upper limb dysmetria was observed during examination; otherwise, motor, sensory, fundus, and gait examination results were normal.
Routine laboratory investigations showed normal results. The fasting blood sugar level was 342 mg/dL and hemoglobin A1c was 6.1%. The serum vitamin D level was 17.1 ng/dL. Serology tests for HIV, syphilis, and hepatitis B and C virus were negative. The echocardiography, electrocardiography, and carotid Doppler study results were unremarkable. A nerve conduction study of the upper limbs was done for his left hand paresthesia, and it was unremarkable. Brain magnetic resonance imaging (MRI) examination showed a 25 × 10 mm segmental lesion in the left median pons involving the basis pontis and tegmentum section. The lesion had T2 and T1 abnormal prolongation with no diffusion restriction, suggesting a subacute pontine infarct (Fig. ). Magnetic resonance angiography showed normal common carotid, internal carotid, external carotid, and vertebrobasilar arteries (Fig. ). Diagnosis of MGS was considered, taking into account the clinical evidence, such as: horizontal nystagmus and gaze palsy, which was secondary to ipsilateral abducens palsy; ipsilateral facial palsy, which resulted in dysarthria; the history of right-sided hemiparesis, which had improved upon evaluation; and the MRI evidence of subacute pontine infarction. Factors such as a history of chronic smoking, elevated fasting blood sugar, being male, and old age further supported our assumption of caudal pontine infarction secondary to chronic paramedian pontine perforator blockage over other differential diagnoses of pontine syndromes, such as tumors, demyelinating disorders, neuroinfectious disorders, and vascular malformations.
Subsequently, the patient was managed with aspirin 325 mg, atorvastatin 80 mg, physical therapy, and vitamin D supplementation and advised on behavioral risk factors. On subsequent follow-up visits, the patient showed significant clinical improvement. Six years after his isolated pontine infarction, the patient has fully recovered from dysarthria, facial palsy, hemiparesis, right-sided appendicular ataxia, and horizontal nystagmus. The follow-up brain MRI showed radiological evidence of chronic paramedian pontine perforator infarction (Fig. ). Currently, he is on secondary stroke preventive therapy as well as physical and behavioral therapy.


A 65-year-old male with symptoms of blurred vision, glare, and photophobia was referred to a district general hospital for the management of post-traumatic aniridia associated with glaucoma affecting his right eye. The patient suffered a closed globe injury associated with right RRD. Six months before the trauma, the patient underwent uneventful bilateral phacoemulsification. The primary management of the RRD took place in a tertiary centre and included pars plana vitrectomy and silicone oil (SO) tamponade. Following the initial procedure, the best-corrected visual acuity was 6/240 in his right eye and 6/6 in his left. The intraocular pressure (IOP) was 30 and 15 mm Hg in his right and left eye, respectively, without ocular hypotensive agents. Slit-lamp examination showed corneal haze and total iris absence associated with partial (<2 clock h) loss of zonules. The intraocular lens (IOL) was inside the capsular bag, centred, and not tilted. There was evidence of keratic precipitates and the accumulation of SO droplets (fish eggs) in the anterior chamber. Fundal examination revealed a flat retina with lattice degeneration. There were no signs of proliferative vitreoretinopathy. The cup to disk (C/D) ratio was 0.8 and 0.3 in his right and left eye, respectively. Glaucoma medication (dorzolamide-timolol combination), combined with dexamethasone drops, was commenced. Two weeks later, the patient underwent 360 prophylactic laser retinopexy. Three weeks following the prophylactic laser, the corneal haze improved significantly, and the patient underwent removal of SO (ROSO). Figure shows the beginning of the operation.
During the 2 months following ROSO, IOP was 18 mm Hg with (dorzolamide-timolol combination). Unfortunately, the IOP gradually increased to 30 mm Hg and became refractive to antiglaucoma medications. The patient was complaining of increasing glare and photophobia. Following a comprehensive risk assessment and informed patient's consent, there was a joint agreement to proceed to combined prosthetic iris implantation (Reper NN Ltd) with glaucoma filtration surgery. Coloured photos of the fellow eye were taken and matched through the sample book of Reper NN Ltd. The photos were also sent to the manufacturer for cross check.
The operation began with a limbus-based conjunctival flap preparation, followed by a scleral rectangular flap creation. The next step included the creation of scleral tunnel (fistula) and the sclerostomy (with a punch). The artificial iris was folded and inserted through the tunnel (fistula) (shown in Fig. ). Following insertion, the implant was sutured to the sclera, in an adjacent to the flap position, with 10.0 nylon suture. Prior to the implant insertion, the suture was passed through one of the 3 haptic holes. Finally, the scleral flap was sutured. The operation was completed with the conjunctival closure. The end of the operation is shown in Figure .
Three months after the procedure, the patient's IOP was 15 mm Hg without medication and the best-corrected visual acuity was 6/60. The cornea was clear. There were no further post-operative complications. The patient denied any glare or photophobia. Most importantly, he was pleased with the cosmetic outcome (shown in Fig. ).
Cases of post-traumatic total aniridia with simultaneous IOL and capsular bag preservation have been reported before [, , , ]. An existing corneal incision (post-cataract surgery) can serve as a decompression valve reducing the risk of globe rupture []. Yet, the risk of complications such as RRD remains, prompting physicians for meticulous examination.
Our patient was concerned about the functional and cosmetic issues caused by the total aniridia. The patient's expectations included a comprehensive and long-lasting solution. Current anterior chamber devices for subtotal or total iris defects include the iris-lens diaphragm; the tension ring-based prosthetic iris and the customizable artificial iris prosthesis []. In this case, the IOL was central in situ, and the capsular bag was intact, and only a partial zonular loss was present. Therefore, the implantation of a foldable artificial iris, which requires a small incision and offers a customised colour design, was considered by the surgical team as the most feasible surgical approach.
In this case, the Reper NN Ltd (model C) artificial iris was chosen. This model is a foldable acrylic artificial implant available in 3 different models and 300 different colour designs. The option of tailor-made customised iris pattern constitutes a significant advantage of the implant. The model C has 3 haptics for better centration and stabilization.
This patient had advanced glaucomatous disc cupping with C/D 0.8, in this right eye. After the ROSO, antiglaucoma medical treatment did not lower the IOP; therefore, a filtration surgery was required. This patient had already been operated 3 times (phacoemulsification, pars plana vitrectomy, and ROSO) in the same eye, and so the idea of a combined approach was more desirable. The main advantage of this approach is that the trabeculectomy fistula can conveniently serve as the iris implant incision, avoiding additional corneal wounds. A similar technique has been described for implanting an IOL during combined phacoemulsification and trabeculectomy []. To our knowledge, the combined technique of trabeculectomy and prosthetic iris implantation has not been previously reported.


The patient, a 28-year-old man with a 3-month-old mass in the neck was referred to our department. The mass, located on the left thyroid lobe, was elastic, hard, showed limited mobility, and measured approximately 30 × 20 mm. There was no remarkable tenderness over the mass.
Blood examination results were normal, including levels of thyroid-stimulating hormone, free thyroid hormone, and thyroglobulin (Table ). Ultrasonography revealed a hypoechoic solid mass in the lower pole of the left thyroid lobe with a poorly marginated heterogeneous pattern (Fig. ). Computed tomography revealed a heterogenic tumor in the left thyroid lobe (Fig. ). 18F-fluorodeoxyglucose (18F-FDG) accumulated in the thyroid tumor on positron-emission tomography. The standardized uptake value of 18F-FDG was 5.29 (Fig. ). Fine-needle aspiration cytology (FNAC) showed a number of lymphoid cells without atypia that were similar to those seen in malignant lymphoma of the thyroid (Fig. ).
As we diagnosed a highly malignant thyroid cancer (cT2N0M0), we performed a left hemithyroidectomy with central neck dissection (ND). Histopathological findings showed that the tumor was composed of irregular insular nests of neoplastic cells and had an expansive growth pattern in the thyroid (Fig. ). The carcinoma cells had round nuclei or polymorphonuclei with well-defined nucleoli and ill-defined cell borders (Fig. ). Immunohistochemical studies showed that the tumor was partially positive for CD5, positive for Ki-67 (approx. 30%), and negative for CD20, calcitonin, and thyroglobulin (Fig. ). Based on these histopathological findings, the tumor was finally diagnosed as CASTLE. There were no signs of recurrence without additional treatment after 10 years of follow-up.


A 62-year-old woman in natural menopause for 12 years presented to the Department of Gynaecological Oncology of the University Hospital “Dr. Georgi Stranski”, Pleven, Bulgaria with complaints of vaginal bleeding. She reported having diabetes mellitus type II with obesity first degree (BMI – 32.65), arterial hypertension, and glaucoma; no previous surgeries. She reported having 2 normal deliveries and 1 spontaneous abortion. A standard work-up was initiated with clinical and gynaecological examination. The gynaecological examination established enlarged uterus as in 2-month pregnancy with no pathology findings in vagina, adnexa, or parameter ligaments. Gynaecological ultrasound measured a 10-mm endometrial mucosa. She was subjected to dilatation and curettage and a diagnosis of clear-cell EC was histologically confirmed. Staging of the disease with chest radiograph, abdominal and pelvic ultrasound, followed by computed tomography (CT) showed no abnormal findings or enlarged lymph nodes (LNs). Thus, the disease was classified as cT1N0M0. The oncological committee referred the patient to surgery. A total hysterectomy with bilateral adnexectomy, pelvic LN dissection, and infracolic omentectomy with peritoneal lavage was done as a standard surgical approach. The final histology described low-proliferative endometrium with intramucosal and polypoid clear-cell EC without infiltration in the myometrium, the cervical channel or the isthmus; there was no lymphovascular invasion; 14 dissected LNs as well as the annexes and the omentum were free of metastases. FIGO staging was thus confirmed as 1A and surgical staging was pT1A pN0 M0. The oncological committee referred the patient to intravaginal brachytherapy postoperatively, and a total dose of 30 Gy in 6 weeks with daily dose of 5 Gy was delivered using iridium 192. The patient was thereafter referred to follow-up (FU) in the outpatient setting. FU visits were organized initially every 3 months and consisted of clinical examination, laboratory tests, and abdominal and pelvis ultrasound. A chest radiograph was done annually.
During the first 12 months there were no signs of disease recurrence. Because the patient reported having a ventral hernia at month 15 after surgery, a surgical correction was planned after check-up. A CT of abdomen and pelvis was done with a solitary enlarged LN in the region of the left common iliac artery, measuring 19/13 mm. A confirmatory PET/CT showed no other secondary sites (). The metastatic burden was considered as low and radically resectable. As an oligo-metastatic first progression with only one LN involved, a surgical approach was considered: elective dissection in the region of the common iliac artery to the left followed by correction of the hernia via hernioplasty with a mesh. A conglomerate of 6 common iliac LNs was dissected (), and the final histology report confirmed a metastasis of clear-cell EC in only one of them. Six cycles of pseudo-adjuvant chemotherapy with carboplatin and paclitaxel were done. No serious adverse events were reported, and the patient was again referred to FU. Regular CT of abdomen and pelvis with i.v. contrast enhancement was done every 3 months. Currently, at the end of February 2020 – 36 months after first disease progression – the patient is free of disease with ongoing clinical and imaging complete remission.


A 4-year-old Syrian male presented to the pediatric gastroenterology clinic with steatorrhea, failure to thrive, loss of appetite, and recurrent abdominal pain. Since early infancy, he suffered from feeding intolerance, diarrhea; he was passing stool up to 5 times/day, the stool was described as oily, bulky, and foul-smelling. No bilious emesis. He was on breast and bottle-feeding. By the age of 1 year, the family started seeking medical advice. Investigations were performed which showed microcytic hypochromic anemia with fat globules in stool microscopy. The patient was treated with multivitamins without any improvement. He was a full-term infant delivered by spontaneous vaginal delivery. The birth weight was 3.5 kg.
There is no significant familial history of genetic diseases or previous hospital admissions.
On physical examination, his body weight was 12.5 kg (−3.2 SD), the length was 95 cm (−2.5 SD). Vital signs were stable and he was generally well.
Laboratory analysis suggested iron deficiency anemia, with hemoglobin level (Hb) 8.9 g/L, Mean Corpuscular Volume (MCV) 68 fl, ferritin 17.4 ng/mL, serum iron 52.1 mcg/dL. Stool microscopy revealed fat globules.
Other laboratory tests that involved hepatic function, renal function, electrolytes, blood glucose, urine examination, thyroid-stimulating Hormone (TSH), Insulin-Like Growth Factor-1 (IGF-1), D-xylose, serological immunoglobulin were within the normal range. Anti-gliadin antibodies IgA, IgG (AGA IgA, IgG), Anti-tissue transglutaminase Antibodies IgA (anti-TTG IgA) were markedly elevated (more than 400 U/mL). Esophagogastroduodenoscopy (EGD) was performed that showed normal findings. The duodenal biopsies showed nonspecific changes as mild focal shorting of intestinal villi and elongation of crypts with increased intraepithelial lymphocytes range (30 lymphocytes/100 epithelial cells). That could not exclude CD (marsh 2).
Based on the clinical presentation and hematologic findings, CD was suspected. The patient was started on a gluten-free diet, vitamins, and iron supplements for 3 months with improvement in appetite and weight, and continued steatorrhea. Therefore, elastase in stool was performed which was markedly reduced. On genetic testing, he was homozygous (9 T/9 T) for the F508del (-CTT) mutation. The diagnosis of CD with CF was made, and pancreatic enzyme replacement therapy (PERT) was initiated, at a dose of 1000 U/Kg/per day offered with ursodeoxycholic acid, multivitamins, folic acid, gluten-free diet, and high-calorie rates of 230% for his age. After about 5 months of treatment, his general situation was good with remarkable clinical improvement, normal stool, and weight gain of 4 kg.
We followed the patient for 6 years. During these years, the patient was re-referred to the clinic with abdominal pain and weight loss due to a gluten diet for 2 months. Anti-TTG IgA was elevated (more than 400 U/mL). The gluten-free diet was restored. Currently, the child is in good condition with a normal growth rate.


A 60-year-old female with ABPA presented with exacerbation of dyspnea and an h/o steroid-induced adverse reactions, i.e. pathological fractures and osteoporosis. She was also on triple inhaler therapy, theophylline and zafirlukast. Immunoglobulin E (IgE) was 1267 IU/ml, sweat chloride was positive, CFTR was negative, A. fumigatus antibodies were positive. Prolonged taper of OCS improved her symptoms and decreased IgE level to 463 IU/ml. However, further de-escalation of prednisone resulted in relapse of symptoms. Addition of voriconazole resulted in decrease in IgE, but prednisone reduction was still not achievable below 20 mg daily, and she developed steroid-induced myopathy. Omalizumab was added but it resulted in a hypersensitivity reaction. Dupilumab was initiated at a dose of 300 mg subcutaneously every 2 weeks, which dramatically improved her symptoms and quality of life. IgE decreased to 79 at 4-month follow-up and she is now tapered to prednisone 5 mg on alternate days.


A 4-month-old male infant was admitted in the pediatric ward of our hospital due to signs/symptoms of malnutrition. The patient was suffering from muscles wasting, weight loss and respiratory tract infection. Perinatal and family history was unremarkable. Due to insufficient breast milk, the child was also fed with bottle milk. Upon admission, the patient weight was 4.1 kg, height was 54 cm and he was suffering from severe muscle wasting. On the next day of admission in pediatric ward, pediatric surgery team was consulted for the child distended thin-walled abdomen with visible bowel loops (suspicion of bowel obstruction) and urine dripping. The pediatric surgery team saw the patient and examined him physically with relevant examinations. On examination the abdominal wall was lax and distended (Eagle Barrett feature) with both retractile testicles and external urethral meatus in position but stenotic. Belly button was intact and muscle waste was noted in upper and lower limbs . Ultrasonography of the patient performed by the pediatric surgery team, which confirmed left renal second-grade parenchymal disease, mild hydroureteronephrosis of upper one-third of ureters, large distended urinary bladder (megacystis) and mild ascites in left abdomen. Since the patient was suffering from chest infection, appropriate antimicrobial treatment along with oxygen support had already been started along with nutritional follow up charts (patient growth charts and patient weight curve) in pediatric ward (–). Both teams (pediatric and pediatric surgery) agreed to decide on definite surgical treatment after the infection suppress and the child condition returns to normal but after 48 hours of inpatient stay at hospital, the child was expired due to secondary chest infection and respiratory failure.


A 79-year-old Taiwanese woman came to the otolaryngologic clinic of our hospital due to an enlarging painless mass over the right neck region in the past 3 months. She denied fever, night sweats, dyspnea, hoarseness, dysphagia, dysphasia, or stridor. On physical examination, the right thyroid lobe was noted to be enlarged and firm. There was a palpable mass in the front of her neck, which moved during swallowing. She had no history of Hashimoto's thyroiditis or cervical irradiation, and her thyroid function test was within the normal range (thyroid-stimulating hormone: 2.01 nIU/mL; free T4: 1.24 ng/dL; thyroglobulin: 1.62 ng/mL; anti-thyroperoxidase: 1.03 IU/mL; and thyroglobulin antibody: 1.81 IU/mL).
The patient had received computed tomography (CT) at hospital outside, which revealed a hypodense nodule with minimal enhancement on the right lobe of thyroid gland []. Its size was approximately 4.1 cm × 3.6 cm, with a longitudinal dimension of 4.5 cm. The trachea, vessels, and soft tissues in the right neck were under pressure and displaced toward the left side. She underwent fine-needle aspiration (FNA) at that hospital, and the cytologic results were suspicious of lymphoma.
In order to obtain more definite results, this woman was referred to the radiological department of our hospital for core needle biopsy. During core needle biopsy, the neck color Doppler ultrasound showed a large heterogeneous hypoechoic mass with an irregular border in the right lobe of thyroid gland. There were twisted and chaotic intranodular vessels, but no defined calcification, hemorrhage, or necrotic portion was observed within the mass, which exhibited indistinct margins and posterior acoustic enhancement [Figure and ]. The pathology revealed diffuse large B-cell lymphoma (DLBCL). For staging the disease, a fluorodeoxyglucose (FDG) positron emission tomography (PET) scan was performed, revealing high-grade hypermetabolic lymphomatous disease, confined in the right thyroid gland, suggesting PTL Ann Arbor stage I [].
After consulting oncology specialists, she started rituximab-based chemotherapy and received serial sonographic follow-up. After three cycles of rituximab plus bendamustine – rituximab (375 mg/m2) and bendamustine (Innomustine®, 90 mg/m2) by intravenous administration on day 1 were administered every 3 weeks for each cycle – neck color Doppler ultrasound showed a significant reduction of twisted blood flow signals in the PTL but no significant decrease (<25% extent) of the tumor size []. Therefore, chemotherapy regimen was adjusted to rituximab, cyclophosphamide, vincristine, prednisone (R–COP). After three cycles of R–COP, i.e., rituximab (375 mg/m2), cyclophosphamide (750 mg/m2), and vincristine (2 mg/m2) by intravenous administration on day 1 and prednisone (100 mg/m2) by oral administration on day 1–5 were administered every 3 weeks for each cycle, the PTL disappeared on the color Doppler and gray-scale ultrasonography []. The patient was treated with R–COP regimen until complete remission of the disease, confirmed on the following FDG PET-CT and whole-body PET examination [].


A 65-year-old man diagnosed with clivus tumor was referred to our hospital by a private clinic for further assessment and treatment. The patient regularly visited the clinic for checkups. He was initially diagnosed with a chordoma or a chondrosarcoma in the clivus, but without specific neurological symptoms. His brain CT revealed a non-expansile lesion of the soft tissue with a non-eroded, well-defined sclerotic margin and internal curvilinear calcification in the clivus, without destruction or mass effect on the surrounding bony structures (). As the first impression, this bone tumor was considered to be benign by a radiologist, such as hemangioma or fibrous dysplasia. Malignant tumors at the skull base, such as chordomas, chondrosarcomas, and metastases were also included in the differential diagnosis. Chest, abdomen, pelvis CT revealed no evidence of primary tumor of metastases. Subsequently, his brain MRI showed that the lesion within the clivus was a high-signal lesion on the T2-weighted image containing a low-signal round mass observed as a high-signal mass on the T1-weighted image without contrast enhancement, which was then suspected as internal fat (). Given the typical radiological appearances in the brain CT and MRI, the lesion was diagnosed as arrested pneumatization of the sphenoid sinus in the clivus. Since this is a normal development variant, no additional examination or treatment was performed.


A 70-year-old woman diagnosed with a tumor in the greater sphenoid bone visited our hospital for further assessment and treatment. She was accidentally discovered with a sphenoid bone tumor during a regular checkup. Initial diagnosis was a chordoma or metastasis. The patient had no specific neurological symptoms, but her brain CT revealed a non-eroded, non-expansile lesion of mixed density with a well-demarcated lesion and internal curvilinear calcification in the left greater wing of the sphenoid bone (). The margin was osteosclerotic, and the adjacent bony structure was intact and showed no mass effect. Differential diagnosis was undertaken to distinguish between benign bone and malignant bone tumors. The chest, abdomen, and pelvis CT revealed no evidence of primary tumor of metastases. Subsequently, her brain MRI showed that the lesion within the greater sphenoid bone had multiple low-signal lesions within a high-signal lesion on the T2-weighted image (). The multiple masses were observed as a high-signal entities on the T1-weighted image without contrast enhancement, thereby suggesting internal fat contents. The lesion was diagnosed as arrested pneumatization of the sphenoid sinus and no further examination or treatment was performed.
The Institutional Review Board of Kyungpook National University Hospital exempted the requirement for informed consent due to the retrospective nature of the study and the minimal risk for the patient. This report was conducted according to the guidelines of the Declaration of Helsinki for biomedical research.


Twenty-six days after an ACLR, a 23-year-old man showed a deterioration in his general state (asthenia, fever and chills) and local signs of an early knee septic arthritis: pain, heat, redness, and edema.
The patient reported an episode of abdominal pain associated with mucoid bloody diarrhea 10 d before the onset of the arthritis symptoms, which quickly resolved within 48 h. Further questioning on risk factors for Salmonella spp revealed the patient had eaten an egg-based picnic 24 h before these symptoms appeared.
This patient was suffering from chronic instability in his right knee, following a soccer injury. An isolated ACL injury was reported on magnetic resonance imaging (MRI).
Three months after the injury, an ACLR was performed, using a hamstring autograft (semi-tendinosus and gracilis). The procedure was performed under general anesthesia with a tourniquet at the proximal thigh for duration of 40 min. An outside-in drilling technique was used for the femoral tunnel. Femoral and tibial fixation was with interference screws.
The patient followed a standardized post-operative rehabilitation protocol aimed at controlled restoration of range of motion, muscle strength and proprioception. He was discharged the same day full weight bearing assisted with crutches. At 15 d after surgery, a routine consultation was performed to verify the absence of pain, hematoma, wound inflammation and/or serous or purulent discharge.
The patient had a free previous medical history.
A collection in the external femoral approach site was confirmed.
A biological inflammatory syndrome was found with an initially raised C-reactive protein (CRP) of 51 mg/L increasing to 130 mg/L over the first 24 h (Figure ), alongside a white blood cell count increase from 11000/mm3 to 13300/mm3 during the same period.
The joint fluid aspiration performed in the emergency room showed neutrophils at direct examination and was followed by administration of intravenous antibiotic therapy – oxacillin 2 g every 8 h and gentamycin – 270 mg/d.
A knee ultrasound examination reported an intra-articular effusion. X-rays showed no fracture.


A 5-year-old male patient reported to a general dental practitioner with a chief complaint of a pain and swelling in his left back teeth region for 10 days. His parents noticed mild swelling on the lower left side of the child's face for 1 week. Clinical examination revealed a diffuse firm tender swelling on the lower left side of the face and also intraorally in relation to mandibular posterior teeth with obliteration of the buccal vestibule. On palpation, there was mild expansion of the buccal cortical plate in relation to deciduous mandibular left second molar. Primary second molar on the involved side was also tender on percussion. Orthopantomograph showed a circumscribed globular radiopaque mass in continuity with the mesial root from which it arose. The tumor mass was surrounded by a thin, uniform radiolucent halo. The second premolar tooth bud was displaced distally by the tumor mass []. On the basis of the clinical and radiographic features, cementoblastoma, osteoblastoma, osteoma and odontoma were included in the differential diagnosis of this lesion. Considering the attachment to the tooth root on the radiograph, cementoblastoma seemed to be the appropriate diagnosis which needed the histopathological confirmation. Following written consent from the patient's parents, the tooth with the attached tumor mass was extracted under local anesthesia and was fixed in 10% formalin. The specimen was sent to the department of oral pathology and microbiology for histopathological examination. Postoperative period was uneventful.
The specimen consisted of a left deciduous second mandibular molar with the mesial root completely embedded within a smooth, globular mass of hard tissue []. The tumor mass was creamish white to tan brown in color and measured 1.5 cm × 1.5 cm × 1 cm in dimensions. The specimen was bisected in mesial–distal direction using a low-speed rotating disc. Examination of the bisected surface showed partial resorption of both roots with mesial root embedded within the tan hard tissue and the other root lying on the surface of the hard tissue mass []. The continuity of the tumor mass with cementum was well appreciated in the stereomicroscopic photomicrograph of the specimen.
Histopathologically, examination of decalcified hemisection showed areas of radicular dentin with cementum-like tissue attached to it. The tumor mass was seen in continuity with root cementum []. It revealed abundant irregular trabeculae of basophilic mineralized tissue with prominent reversal lines, suggestive of cementum, interspersed with fibrovascular connective tissue. Toward the periphery of the hypocellular mineralized tissue, large cells within lacunae spaces were seen suggestive of cementoblasts []. A capsule-like band of fibrous connective tissue covering was apparent at few areas. Peripherally, characteristic perpendicular arrangement of the trabeculae to the external capsule was noted in the stereomicroscopic picture of the decalcified section []. All these radiographic and microscopic features confirmed the diagnosis of cementoblastoma.


A 64-year-old female underwent LT in 2001 for alcoholic and hepatitis C virus-induced cirrhosis through a Kocher incision with upper midline extension. The patient had a history of open appendectomy, thyroidectomy for toxic multinodular goitre, endoscopic excision of urothelial bladder carcinoma, moderate aortic and severe mitral valve insufficiency and chronic renal insufficiency. Because of the incidental finding of anaemia (19 years after the LT) treated with red blood cell transfusion, the patient underwent colonoscopy, revealing an ulcerative-vegetative, 4.5-cm diameter lesion of the ascending colon; the biopsy reported the diagnosis of well-differentiated adenocarcinoma. In consideration of the renal insufficiency, it was decided not to perform a contrast-enhanced computed tomography. A whole abdominal ultrasound and a high-resolution chest tomography excluded nodal involvement and metastases. Pre-operative blood tests showed normal liver function and haemoglobin level, while serum creatinine and glomerular filtration rate were, respectively, 3.17 mg/dl and 15 ml/min/1.73 m2. Surgery was scheduled. The patient was positioned supine with mild right up and anti-Trendelenburg tilt, when needed. Pneumoperitoneum was established at 12 mmHg through an open coelioscopy access in left-lower periumbilical position. The inspection of the abdominal cavity with a 30° laparoscope revealed the presence of diffuse post-operative adhesions within the right and upper quadrants. Trocar positioning as well as operators' position and management of trocars is reported in ; we found this arrangement very convenient to tackle the vascular pedicles. Adhesiolysis was performed using a laparoscopic bipolar dissector (Caiman® 5 mm by Aesculap AG, 78532 Tuttlingen, Germany); the toughest adhesions were at the hepatic flexure []. The tumour was previously endoscopically ink marked and well visible. The ileo-colic vessels were ligated with vascular clips and taken. Dissection proceeded with the mobilisation of the right mesocolon with a mediolateral approach till complete mobilisation of the terminal ileum, right colon including the hepatic flexure and the proximal transverse colon. A small right colic artery as well as the right branch of the middle colic artery was tackled with vascular clips and taken. The terminal ileum was divided with an endoscopic linear cutting stapler and so the proximal transverse colon. There was no need to change the camera position. The specimen was delivered through a 6-cm supra-umbilical median laparotomy, including the epigastric incision, after positioning of a wound protector device. The intestinal continuity was restored with a handsewn anastomosis. A closed-suction, flat (4 mm × 10 mm) silicone drain (Jackson–Pratt® Type) was placed in the pelvis through the hypogastric access. Blood loss was 100 ml, and no transfusions were required. The overall operative time was 260 min. No anaesthetic complications were reported during surgery and, after the procedure, the patient was transferred to the intensive care unit for 1 day. During the perioperative period, immunosuppressive and antiplatelet therapies were continued as well as accurate glycaemic control and hydroelectrolytic balance were kept in order to preserve renal, cardiac and liver functions. The drain was removed on the 2nd post-operative day. Bowel movements started on the 3rd post-operative day, and a full diet was given. She was discharged on the 6th post-operative day. No major deterioration of the renal function was observed. Histologic examination of the specimen revealed a Stage II disease with 19 negative lymph nodes: PTNM: PT3, N0, M0 (TNM VIII ed., 2017). The patient did not experience complications and is free of disease 4 months after surgery.


A 57-year-old woman presented with a history of bloody stool due to ischemic colitis. The patient's intestinal condition improved, but abdominal computed tomography (CT) revealed a 32 mm tumour, with a regular surface, in the small intestinal mesentery of the left upper abdomen. She had no history of abdominal injury and had not received any drugs. However, she had undergone laparoscopic salpingo-oophorectomy for a cystic tumour of the ovary 6 years prior. Seven months after the patient's initial presentation, during the follow-up, abdominal enhanced CT showed that the tumour appeared to be growing, reaching a diameter of 43 mm performed []. Based on the findings of the clinical course and imaging, surgery was planned to obtain a diagnosis and rule out the possibility of malignancy. During surgery, five trocars were inserted and a spherical tumour with its base in the jejunal mesentery near the Treitz ligament, was observed []. The jejunal artery and vein, branching from the superior mesenteric artery and vein, was the main feeder []. The tumour was removed from the abdominal cavity without damage. The operation time was 201 min and the blood loss was 0 ml. The maximum tumour diameter was 50 mm. The patient was discharged on post-operative day 3 without any complications. The histopathological diagnosis showed fat cells with cholesterol deposition in the centre of the tumour. The tumour composed of thin fibrous capsule and necrotic contents. The foamy macrophages were observed around the necrotic tissues. Consequently, the tumour was diagnosed as a Schloffer tumour without malignancy.