A 55-year-old Caucasian man with a history of squamous cell carcinoma of the left tonsil treated with neck dissection, chemotherapy, and radiation therapy eight years previously presented to a comprehensive ophthalmologist complaining of a gray spot in the upper right quadrant of his left eye that began four days ago. He denied any pain, flashes, or floaters. Past medical history was significant for hyperlipidemia, and family history was significant for coronary artery disease (CAD).
Examination of the left eye revealed a vision of 20/20, intraocular pressure of 16 mmHg, and a normal slit lamp exam (SLE). Dilated fundus exam (DFE) of the left eye demonstrated a region of retinal edema along the inferotemporal arcade extending just below the fovea. Multiple Hollenhorst plaques were noted throughout the same area, consistent with a diagnosis of BRAO. The fundus photograph and fluorescein angiogram from the day after presentation are shown in Figure . Examination of the right eye was normal.
The patient underwent carotid artery ultrasound, which revealed a fully patent right carotid but evidence of a heterogeneous plaque measuring 70-99% diameter stenosis in the left carotid. A transthoracic echocardiogram did not reveal any intracardiac sources of emboli. With his BRAO and significant ipsilateral carotid artery stenosis, the patient met clinical criteria for undergoing a carotid endarterectomy [] and was referred to a vascular surgeon for this definitive treatment.
Three months after the patient’s endarterectomy, he was noted to have 20/20 vision in the left eye with residual visual field defect in the superonasal quadrant of his left eye, corresponding to the original area of retinal nonperfusion (Figure ).


A 34-year-old Chinese woman was treated in Second Hospital of Jilin University and survived for 8 months. She was admitted to the Department of Gastroenterology, the Second Hospital of Jilin University for a 15-day history of dysphagia after food intake and a 3-month history of intermittent chest pain. A bulge (2.0 × 2.0 cm2) with a smooth mucosal surface in the esophageal wall was observed by esophagoscopy at an external pressure of approximately 25 cm H2O. Aortic CT angiography (CTA) revealed two thoracic aortic aneurysms at the level of aortic arch (diameter, 2.7 cm), descending aorta, diffused descending aortic wall thickness and slightly dilation (diameter, 5.8 cm) of ascending aorta (Figure ). After diagnostic confirmation was obtained, the patient was immediately transferred to the Department of Cardiovascular Surgery. Routine laboratory test results indicated that the patient had mild anemia and a slightly elevated white blood cell count. The next morning, the patient suffered from severe hematemesis with fresh blood. She immediately underwent emergency surgery for endovascular stent-graft placement. The surgical procedure consisted of a median sternotomy with cardiopulmonary bypass using right femoral artery and vena cava cannulation. Once the body temperature reduced to 25°C, circulation was arrested. A longitudinal incision was made on the lateral wall of the aortic arch. The selective cerebral perfusion was performed by innominate artery and left common carotid artery cannulation. The inner opening of the aortic arch aneurysm (diameter, 1 cm) was found between the innominate artery and the left common carotid artery, which was then repaired with a patch cut from prosthesis blood vessel (Figure A). A catheter sheath containing a stent graft (Microport Medical [Shanghai] Co, Ltd, China) of 26-mm diameter and 100 mm length stent-graft (Figure ) was implanted into the descending aorta, and its proximal was far from the left subclavian artery (Figure B). The choice of appropriate sizing of the stent graft in patients was described in detail by Dr. Sun’s group []. The stent was running sutured with 5–0 Prolene to the descending aortic wall, and the aortic incision was closed.
The patient had a satisfactory postoperative recovery including circulatory, pulmonary, and central nervous system functions. On postoperative day 2, gastroendoscopy revealed an ulcer (diameter, 3 cm) was located approximately 25 cm from the incisors (Figure A). Esophageal stent was not suitable for the relatively large size of the ulcer. Since there were no obvious signs of mediastinal infection and pneumomediastinum, a conservative treatment protocol was selected for this patient. A feeding tube was inserted into the duodenum for nutritional administration.
Twenty-five days after surgery, gastroendoscopy revealed a significant reduction in the size of the ulcer (Figure B). An aneurysmal wall culture and three times blood culture was negative for any microorganisms. Meropenem which is a broad-specturem antibiotic was administered for 33 days until the no fever and leukocytosis was normal. CTA (Figure A) on postoperative day 36 showed that the position of the aortic stent was ideal and the aortic aneurysm was well closed without any abnormalities. Gastroendoscopy on postoperative day 45 (Figure C) showed that the ulcer was completely healed. The patient began oral soft food intake and she did not have any discomfort. The patient was discharged 1 week after initiation of normal diet intake.
Six months after surgery, aortic CTA showed that the position of aortic stent was also ideal without any abnormalities in the aorta (Figure B, C). Gastroendoscopy revealed that the esophageal damage was completely repaired.
Eight months after surgery, the patient was re-admitted urgently because of hemorrhagic shock caused by massive hematemesis. The patient was treated with fluid infusion, blood transfusion, and promptly emergency treatments. The CTA scan could not be done since severe shock of the patient, so aneurysm and esophageal lesion was not clear, and the reoperation would not be performed with the serious condition and unclear lesion change. All of these treatments failed and the patient died several hours later. Medical records indicate that the patient had a 1-month history of continuous low-grade fever for >1 month without any treatment. The cause of death was considered the aortic aneurysm rupture into the esophagus resulting from a vascular stent infection that led to hemorrhagic shock.


A 45-year-old Caucasian woman presented with a history of swelling at the base of the tongue, first noticed about 20 years before hospitalization. The swelling gradually increased in size and eventually caused dysphagia, inspiratory dyspnea, and stomatolalia. The patient’s birth history, developmental milestones, and menstrual history were normal. She was a smoker (10 cigarettes/day). Her family history revealed that one sister was affected with thyroid goiter and had undergone surgery. No hypothyroidism symptoms were referred.
On clinical examination, a 3 × 4-cm round mass was noted at the base of the tongue. The mass occupied the entire oropharyngeal space with the exception of a small portion. Open surgical biopsy revealed thyroid tissue with focal cystic dilatation of follicular cells. Ultrasonography showed the absence of the thyroid gland at its usual site.
The patient was successfully treated with local excision of the lingual thyroid tissue through a median vertical suprahyoid approach and tracheotomy at the second to third tracheal rings. The hyoid bone was incised along the middle, the prelaryngeal muscles were parted, and a median pharyngotomy was created through the thyrohyoid space. The mass was then removed. Drainage tubes were placed at the base of the tongue and in the suture lodge.
Following surgery, repeat ultrasonography of the neck revealed no abscesses or problems at the site of intervention. Histological examination confirmed removal of lingual thyroid tissue containing a small node of parathyroid tissue. Removal of the heterotopic thyroid tissue required subsequent medical replacement therapy to maintain thyroid function.


A 22-year-old Caucasian woman presented for evaluation of a right submandibular swelling exhibiting slow onset (about 3 years). She reported a history of chronic thyroiditis with hypothyroidism treated with thyroxin 50 mcg/day.Neck ultrasonography showed a 4 × 5-cm nodule of mostly solid composite structures located near the right submandibular gland. The thyroid gland was normal in morphology and size, but exhibited features consistent with chronic thyroiditis (hypoechogenic structure, soft edges). Magnetic resonance imaging showed a 4.5 × 4.0 × 3.7-cm, rough oval right submandibular lesion at the level of the floor of the mouth; the lesion was suspected to contain mucous (Figure ). The lesion was displacing the intrinsic muscles of the tongue and the submandibular gland. Multiple variably sized lymph nodes with a reactive appearance were present in the lateral neck, jaw, and chin regions.
After evaluating her examination findings, the patient underwent surgery. We isolated the normal submandibular gland through a right submandibular skin incision. The gland was not connected to the nodular formation. Its dimensions were 4 × 4 cm, and it was encapsulated and exhibited a hard elastic consistency. Immediately after removal of the tissue, extemporaneous histological examination revealed a diagnosis of ectopic thyroid tissue. The surgical intervention was concluded with application of intradermal sutures and a dressing.
Postoperative thyroid function tests revealed a thyroid-stimulating hormone (TSH) level of 4226 IU/ml (reference range, 0.250–4.500 IU/ml), free thyroxine level of 1.21 ng/dL (reference range, 0.70–1.70 ng/dL), and free triiodothyronine level of 1.69 pg/mL (reference range, 2.00–4.90 pg/mL). The endocrinologist prescribed thyroxin at 50 mcg/day upon discharge. The definitive histological diagnosis, which came to our attention after the patient had been discharged, was hypertrophic thyroid tissue in an adenomatous-type stroma.


A 33-year-old Caucasian man presented with a midline fistula originating from a neck swelling compatible with a midline cyst of the neck (thyroglossal duct cyst). The cyst became periodically infected during the 5 years before hospitalization. The patient’s birth history and developmental milestones were normal. He was a smoker (20 cigarettes/day) and a former heroin addict. The patient was negative for hepatitis C virus, hepatitis B virus, and human immunodeficiency virus. His family history revealed no other family members with thyroid disease.On clinical examination, a hard sclerotic area was discernible around a small (1.0 × 1.5 cm), retracted dermal scar above the hyoid bone. The patient underwent unenhanced computed tomography of the neck, which revealed a hypodense, superficial lesion of 3 cm length and many reactive lymph nodes along the jugular chain bilaterally (Figure ). The lesion extended caudally, passing through the thyroid cartilage and laterally displacing the mylohyoid muscles.
The patient was successfully treated with local excision of a midlinemedium cyst of the neck with a hyoid bone splinter and an anterior cervical lozenge skin. Drainage tubes were placed in the suture lodge, and antibiotic therapy was begun. Histologic examination identified intracystic thyroid tissue without atypia.


The proband was a 12-year-old Korean boy born to non-consanguineous parents. He had been treated for partial seizure disorder for 2 years. He was referred to the pediatric orthopedic clinic for the evaluation of intermittent knee pain that had occurred for a few months. His height was 144.6 cm (20th percentile) and bodyweight was 41 kg (60th percentile). The height of his father and mother was 170 cm and 160 cm, respectively. His father also suffered from intermittent mild knee joint pain. The proband and his father did not show muscle weakness and pain suggesting myopathy. There was no Gower sign and Trendelenberg sign on physical examination. The level of creatine kinase and lactate were normal. Informed consent was obtained from the parents of the child.
Clinically, the lower extremity of the proband showed mild genu valgum deformity. The knee joints displayed full range of motion. The distal femoral and proximal tibial epiphyses were affected most, and the distal tibia and distal radius epiphyses were affected less severely. There was no irregularity on the femoral head epiphysis. Distal femoral and proximal tibial epiphyses showed loss of height, joint surface irregularities and fragmentation (Figure A and B). The epiphysis of the distal tibia showed lateral shortening and fragmentation (Figure C and D). There was no abnormality of the distal fibular epiphysis nor the talar dome. The tarsal navicular and cuneiform bone showed irregular ossification (Figure E). The epiphysis of distal radius was wedged shape and the epiphyses of the distal ulnae were relatively small. The carpal bone shows dysplasia and flattening (Figure F). The spine and the proximal femoral epiphyses appeared normal (Figure G). X-rays of the proband’s father revealed osteoarthritis of Kellgren-Lawrence grade I particularly on the medial side (Figure A). However, the proximal femoral epiphyses were spared (Figure B). Other members of the family were not affected.
PCR from genomic DNA followed by direct sequencing was performed following parental informed consent. Genomic DNA was isolated from peripheral blood leukocytes. Direct DNA sequencing of the COMP, MANT3, COL9A1, COL9A2, and COL9A3 genes was performed. All exons were amplified using the primers previously described (Table ). PCR amplicons were bidirectionally sequenced with the Big Dye terminator v3.1 cycle sequencing kit (Applied Biosystems, Foster City, CA) using an ABI PRISM 3130 Genetic Analyzer (Applied Biosystems). COMP, MATN3, COL9A1 and COL9A2 revealed no mutations. A novel missense mutation c.104G>A in exon2 of COL9A3, which resulted in p.Gly35Asp, was identified. RefSeq ID: NM_001853.3 reference sequence was used for cDNA nucleotide numbering. This mutation was predicted to be not tolerated by SIFT and probably damaging by PolyPhen [, ]. Also, comparative evolutionary analysis showed that the glycine residue at codon 35 is a highly conserved amino acid during evolution. And the same mutation was observed in the proband’s symptomatic father. We performed Sanger sequencing of 100 healthy controls and none harbored a c.104G>A mutation in exon 2 of COL9A3.
Molecular mechanics potential energy minimization and MD simulations were carried out using the program package AMBER 11 []. FF99 force field in AMBER package was used in all MD simulations including hetero atoms. Topology file GAFF force field in AMBER package was used. The generalized Born solvation model was used instead of explicit water []. The temperature was kept constant by using Langevin dynamics with a collision frequency of 5.0 ps−1[]. The minimized system was heated from 0 K to 325 K for 50 ps in a total of 7 stages. By heating gradually in stages, the possible crashes will be reduced by allowing it to equilibrate at each temperature. The heated systems were then subjected to molecular dynamics simulations for 1 ns each at 325 K in a total of 10 stages. In all simulations, the temperature was kept constant at 325 K. The simulations were performed using the PMEMD module with GPU system which utilizes the particle mesh Ewald method []. SHAKE algorithm was used to constrain bond lengths involving hydrogen [].The mutation of p.Gly35Asp in type IX collagen alpha 3 has a Pro-Pro-Gly consecutive residue pattern. The collagen model structure was generated with a template of 2v53 PDB (protein database bank). After the MD simulation, the wild type and mutant collagen structures were visually inspected. The wild type structure formed hydrogen bonds with its neighboring strand while the mutant was aggregated by themselves (Figure A to D). In addition, the distances between the mutation site (C-alpha) of the wild type and the mutant collagen are almost twice (Figure E and F). The calculated energy state of the mutant is much lower, causing a self aggregation (Figure G). Considering the major structural change caused by the collagen mutant, a malfunction of the type IX collagen is expected.


On 22 November 2012, a 76-years old male presented to the urology department with hematuria and burning micturition that were neglected by the patient since six months. On presentation, he was not febrile with normal vital signs and negative urine culture.
The ultrasonography shows a bladder of budding aspect, bifocal with long axis (3 cm). The histopathology revealed urothelial carcinoma infiltrating high-grade bladder (II pTa). On 30/11/2012, underwent a transurethral resection of bladder tumor. A double-current probe 18 c was also introduced.
On 19/01/2013 the patient presented an acute pyelonephritis and the urine culture showed the presence of quinolone resistant M. morganii. The empiric antibiotic therapy consisted of three doses a day of 2_g Ampicillin during 4 days. Urine culture subsequently yielded M.morganii. The antibiotic regime was then replaced with three doses a day of cefoxitin 1_g during one week. After this, the urine culture was negative but the haematuria still existed.


A 42-year-old man with cholecystolithiasis had an open cholecystectomy under epidural anesthesia at a local hospital 2 months prior to admission. He weighed 72 kg and was 173 cm tall, and had no significant medical history. During the operation his vital signs were stable and no hypotension was observed. The epidural catheter was inserted via the T7–T8 interspace, and passed upward to the upper thoracic levels. During insertion of the catheter he felt a shooting pain over the right lower leg, which disappeared immediately. Five milliliters of 2% lidocaine was injected as a test dose. Five minutes after the test-dose injection, 15 mL of 2% lidocaine (with adrenaline 1:200,000) was given incrementally, obtaining a T4 sensory level. The operation was uneventful. At the end of surgery, the epidural catheter was removed.
On the fifth postoperative day, the patient complained of numbness and a paresis of the right leg, which spread to the left leg. Thereafter he was evaluated by an anesthetist and a neurologist. Neurologic examinations showed that sensory deficit was below the T7 level, muscle power was grade 2/5 over the right lower limb and 4/5 over the left lower limb, deep tendon reflexes of both lower limbs were increased, and the Babinski sign was bilaterally positive. He had bladder incontinence and constipation, and his positional sense of the left leg was impaired. Emergency thoracic computed tomography (CT) ruled out disk herniation, epidural abscess, and epidural hematoma. Both thoracic magnetic resonance imaging (MRI) studies and motor-evoked potentials recorded from the lower limbs were normal. Therefore, transverse myelitis was diagnosed and the patient was administered dexamethasone and γ-globulin. Two months after initiation of therapy, the patient had not yet shown any neurologic improvement, and was transferred to our hospital for further treatment.
After admission the patient was re-examined. MRI of the thoracic spine showed a hyperintense lesion expanding the cord from T6 through T7 on T2-weighted images, and on T1-weighted images there was an isointense lesion expanding the cord from T6 through T7 with ring enhancement after gadolinium diethylenetriaminepentaacetic acid (GDTA) administration (Figure A–C). Results of cerebrospinal fluid (CSF) analysis were normal and the CSF culture did not grow any bacteria. A tuberculin skin test was negative. Chest radiography revealed no abnormality. Therefore, spinal cord infarction (SCI), intramedullary inflamed granuloma, or intramedullary neoplasm was considered to be the cause of paraplegia following epidural anesthesia. The patient was treated with dexamethasone, antiviral medications, and rehabilitation training. These therapies apparently relieved his neurologic symptoms. However, 20 days after administration his sensorimotor functions suddenly deteriorated. Numbness and paresthesia sensation extended up to the T5 levels. Muscle power of the lower limbs decreased to grade 0/5 over the right lower limb and 2/5 over the left lower limb. MRI studies at this time showed an enlargement of the intramedullary lesion (Figure A, B). Because of the patient’s neurologic deterioration and the uncertain diagnosis, complete surgical excision of the intramedullary mass was performed. Histopathologic examination revealed a tuberculous granulomatous lesion (Figure ). Antituberculous treatment was initiated with rifampicin, isoniazid, and pyrazinamide after surgical intervention and was continued for 6 months. At the last follow-up visit, 7 months after laminectomy, his motor and sensory functions had gradually improved over time. He was able to walk with assistance and had regained bladder control.
Paraplegia is a rare but tragic complication following epidural anesthesia. When postoperative paraplegia occurs, the anesthetic technique, surgical procedure, and coexisting disease should all be considered. In this case, the postoperative paraplegia was related to intramedullary spinal tuberculoma. However, we were unable to ascertain the exact cause of paraplegia before histopathologic examination. From clinical symptoms, laboratory tests, and imaging studies, the possible causes of postoperative paraplegia in this patient included acute transverse myelitis, SCI, and intramedullary inflamed granuloma or neoplasm.
Acute transverse myelitis (ATM) represents a major subset of acute noncompressive myelopathies characterized by acute or subacute dysfunctions of motor, sensory, and autonomic nerves [], with an incidence of 1–4 per 1 million persons per year. Individual sporadic cases of transverse myelitis have been reported following spinal, epidural, or general anesthesia, but the causative agent has not been identified []. Because the clinical symptoms and abnormal gadolinium enhancement of the spinal cord at MRI were noted in our patient, the diagnosis of ATM could not be excluded despite normal CSF analysis.
SCI is a rare disorder characterized by flaccid paraplegia with absent deep tendon reflexes, but with preserved proprioception and vibration sense. It has been reported that the causes of SCI following epidural anesthesia include compression of the spinal arteries by the volume of epidural solution, systemic hypotension, pre-existing vascular disease, the local vasoconstrictor effect of epinephrine, and possible acute thrombosis of the anterior spinal or radicular arteries []. In this case, introducing an excessive amount of anesthetics into the epidural space and using epinephrine in the local anesthetic solution were possible contributory risk factors. However, the absence of hypotension during the operation, the loss of positional sense in the patient’s left leg, and the characteristics of signal abnormity on MRI examination do not completely support the diagnosis of SCI.
Intramedullary spinal tuberculoma is a rare form of central nervous system tuberculosis, which occurs usually in young people and in the thoracic spinal cord. Although it frequently presents signs of subacute spinal cord compression, variable clinical manifestations including Brown-Sequard syndrome and episodes of paraplegia have also been reported []. The MRI of intramedullary tuberculomas shows gadolinium ring enhancement, with or without central hyperintensity on T2-weighted images, and gadolinium to isointense rings on T1-weighted images []. In our patient there was an isointense area with cord expansion on T1-weighted images and a hyperintense area on T2-weighted images, with ring enhancement after contrast administration. Unfortunately, the diagnosis of intramedullary spinal tuberculoma was delayed despite the typical imaging features, for several possible reasons. First, the patient had no history of tuberculosis. It has been suggested that intramedullary tuberculomas are almost always associated with active pulmonary tuberculosis []. Second, the tuberculin skin test, chest radiography, and CSF examinations were all normal. Lastly, postoperative paraplegia accidently occurred following epidural anesthesia, and the puncture site was adjacent to the lesion location of intramedullary spinal tuberculoma. Therefore, it was necessary to identify anesthesia-related complications.
The optimal treatment of intramedullary tuberculoma remains debatable. Both surgical and medical treatments have been reported to achieve reasonable efficacy in different studies [–]. Medical treatment includes antituberculous chemotherapy and steroid therapy. The addition of corticosteroids with single or multiple tuberculomas resulted in an improved clinical outcome, presumably by reducing edema. For this reason, the neurologic function of our patient was improved temporarily after dexamethasone treatment. Surgery is generally indicated when (1) there is no response to chemotherapy, (2) the diagnosis is in doubt, and (3) there are large lesions with rapid deterioration in neurologic function []. Because of the uncertain diagnosis and deterioration of neurologic status, surgical intervention was performed in our patient. Despite subsequent antituberculous therapy, the patient retained some disability.


A 62-year-old male patient was on cefuroxime axetil treatment for an upper airway infection that persisted for 15 days. However, he was admitted to the emergency department with complaints of redness, swelling, and pain increasing with motion in the neck region, leakage from the right ear, headache, shivering, and fever. His body temperature was 39°C upon physical examination. There was grade I tonsillar hypertrophy in the oropharyngeal examination. The right external ear way was edematous and the tympanic membrane was macerated. There was also tenderness in the neck region. Any abnormalities related to the lungs were not present in the physical examination and the neurological examination was normal. No other additional findings were detected in the physical examination. The patient had a history of diabetes mellitus type 2 (T2DM) for 15 years. His blood glucose was 317 mg/dL and hemoglobin A1c was 10.2%, indicating poorly controlled T2DM. His white cell count was 18,000/mm3 and other pertinent laboratory results were unremarkable. With the clinical suspicion of deep neck infection, brain and neck computed tomography (CT) was performed. The neck CT revealed internal jugular venous distention with a thickened enhancing wall, filling defects in the lumen, and air bubbles. In the brain CT, there were aeration defects and effusion on mastoid cellules and the middle ear and filling defects and air bubbles in the right sigmoid and transvers sinuses (). In order to determine the extent and other accompanying complications, contrasted brain and neck MRI were performed, which revealed that there was signal void loss in T2WI on the right IJV (), right sigmoid, and transverse sinus; internal jugular venous distention with a thickened enhancing wall and filling defects in the IJV and sigmoid-transverse sinus lumens (Figures and ). Thrombosis of other intracerebral veins was not observed. Moreover, there were inflammatory signal changes on the right mastoid cellules and the middle ear cavity. These findings were evaluated as compatible with right OM, mastoiditis, IJV, sigmoid, and transverse sinus thrombophlebitis. Air bubbles observed both in the IJV and transverse sinus alluded to the fact that the infection was caused by anaerobe bacteria. The blood culture was negative. The patient was diagnosed with Lemierre's syndrome, owing to the OM and mastoiditis and accompanying sigmoid and transverse sinus thrombosis. Vancomycin 2 gr/day IV and Meropenem 3 × 2 gr/day IV treatments were administered for two weeks and a right radical mastoidectomy was performed. The patient improved rapidly and the clinical picture of the patient resolved completely in 14 days. A control imaging for the resolution of thrombosis could not be performed because the patient was lost during follow-up.


A 46-year-old Sri Lankan man presented to our institution with high-grade fever associated with severe retro-ocular pain, photophobia, bone pain and severe body aches of three days’ duration. He was a recipient of an ABO-compatible cadaveric LT 26 months previously for treatment of end-stage cryptogenic cirrhosis. The immediate post-transplant period had been complicated by acute rejection, but he made a full recovery with an allograft. He was maintained on prednisolone 5mg daily and tacrolimus 3mg twice daily. He had developed diabetes after the third month post-LT. His two sons had had a febrile illness, diagnosed as DF, one week before coming to our institution. He did not complain of respiratory, urinary or bowel symptoms or a rash. An examination did not reveal jaundice, rashes or neck stiffness, but demonstrated a fine tremor in outstretched hands. His right frontal sinus was tender on palpation.
His initial full blood count revealed thrombocytopenia (90,000/μL), and, with a suggestive clinical picture, a provisional diagnosis of DF was made. His skull X-ray demonstrated a fluid level in the right frontal sinus confirming acute sinusitis, which was treated with intravenous ceftriaxone 1g twice daily. Over the next few days, his white cell count and platelet count gradually dropped, reaching a nadir by day 4 of the illness. Dengue NS1 antigen was detected in his day 3 serum sample, confirming the diagnosis of DF. His liver enzymes rose sharply until day 7 before starting to recover. His bilirubin levels and coagulation profile were normal. He entered the leakage (critical) phase on day 6 of his illness, and he recovered by day 8 without any complications with standard supportive DF management. DNA detection of cytomegalovirus was negative, and his blood cultures were sterile. However, liver enzyme normalization took more than two weeks. Throughout his hospital stay, his serum creatinine was around 140μmol/L and, together with fine tremors, was suggestive of tacrolimus toxicity (T0 = 13.4ng/dL). Tacrolimus was reduced to 4mg daily as a result. His creatinine levels dropped to 104μmol/L by the time of discharge. The day 7 and day 14 dengue immunoglobulin M (IgM) titers showed an eightfold increase. Figure shows the changes in parameters over time.


In March 2012, a 41-year-old female was admitted to Subei People’s Hospital of Jiangsu Province (Yangzhou, China) following the diagnosis of invasive BC at Yizheng City People’s Hospital (Yizheng, China). The patient had undergone a local biopsy five days prior to admission to Subei People’s Hospital of Jiangsu Province, where further diagnosis and therapy was undertaken. The patient was healthy prior to diagnosis and the family history was non-contributory.
Upon admission, the size of the primary biopsy tumor was 2.0×1.5×1.0 cm and the pathological diagnosis was an invasive carcinoma of the breast (that had been determined at the previous hospital). However, details of the initial surgical procedure were unknown. Gross examination revealed a 4.0-cm incision scar that was 1.5 cm above the right nipple. A tumor measuring 3.0×2.5×2.0 cm was identified in the right side of the thyroid lobe, however, no further abnormalities were identified. Preoperative imaging included an ultrasound of the neck, which revealed a hypoechoic heterogeneity in the right lobe of the thyroid (size, 3.2×1.5 cm) exhibiting punctate calcification. The patient was negative for clinical neck lymph node metastasis. A general physical examination did not indicate any abnormalities. A final preoperative diagnosis of invasive carcinoma of the right breast, as well as thyroid cancer was established.
The patient underwent a modified radical mastectomy and total thyroidectomy following the diagnosis of papillary thyroid cancer (PTC), which was determined via intraoperative frozen section evaluation. Subsequently, postoperative pathological examination of the thyroid sample established a diagnosis of papillary thyroid microcarcinoma (longest diameter, 3 mm). As one of the eleven axilla lymph node samples that was removed during the modified radical mastectomy demonstrated metastases, the patient commenced adjuvant chemotherapy with cyclophosphamide (800 mg), doxorubicin (100 mg) and paclitaxel (120 mg), which was administered every three weeks for 3.5 months. Furthermore, oral levothyroxine was administered to maintain thyroid hormone homeostasis. Due to positive progesterone and estrogen receptor (ER) immunostaining of the tumor tissue sample, endocrinotherapy was proposed for a minimum duration of five years. The patient was healthy at the two-year follow-up subsequent to the initial diagnosis.


A 61-year-old man presented with a history of dull aching pain in his lower spine, rectal pain, and increased urgency of defecation lasting for three weeks. Abdominal examination and digital rectal examination were unremarkable. A barium enema showed extrinsic compression of the lower rectum from a presumed low pelvic mass and two persistent filling defects within the descending colon. Colonoscopy showed a pedunculated polyp at 50 cm. Biopsies of this polyp confirmed it to be a tubulovillous adenoma with mild dysplasia. The rectal mucosa was normal. CT-guided biopsy of the presacral mass initially suggested a prostate cancer. However, on review of the histology and scan, a carcinoid tumour of the presacral space was diagnosed. An MRI of the pelvis carried out showed a loculated mass 6 × 4.3 × 4.8 cm, proximal to the lower rectum. The rectal mucosa was found to be intact whilst the serosal surface was inferiorly breached and in direct contact with the mass. The mass displaced the inferior aspect of levator ani laterally and there was evidence of direct extension into muscle on the left side. Staging CT scan did not show any evidence of distant metastases. The patient underwent abdominoperineal excision of the rectum.
Microscopy of the CT-guided biopsies of the presacral mass showed fibrous tissue extensively infiltrated by an epithelial neoplasm. The tumour was moderately to poorly differentiated and had a focally cribriform growth pattern. Despite being described as moderately to poorly differentiated, the tumour had a low Ki-67 index with no necrosis or other features of poor prognosis. Immunohistochemical staining of the tumour cells strongly expressed prostatic acid phosphatase and showed weak patchy CD56 positivity. Furthermore, it revealed strong and diffuse positivity for neuroendocrine markers: synaptophysin and chromogranin. The tumour cells also coexpressed the cytokeratin MNF116 and showed patchy AE1/3 positivity.
Macroscopically, the surgical resection specimen showed a tumour mass measuring 59 × 42 × 27 mm which was attached posteriorly to the rectum in the midline, close to the distal margin. The tumour surface had a grey-white appearance, and yellow discoloured areas were present (). Distally, there were areas of cystic changes within the tumour mass. The tumour involved the muscle of the anal canal but not the mucosa. Microscopic sections of the tumour revealed a homogenous neoplasm that was made up of a uniform population of round cells that had slightly granular nuclei (). The cells were arranged in trabeculae and islands with a prominent vascular connective tissue stroma. In some areas, the tumour intermingled with smooth muscle bundles from around the anal canal. The morphological features suggested a neuroendocrine (carcinoid) tumour (). This was confirmed by immunohistochemistry which showed that neoplastic cells expressed both chromogranin and synaptophysin. The cysts described inferiorly were lined by columnar mucinous epithelium, which strongly expressed cytokeratins 7 and 19 but was negative for cytokeratin 20. There was a subpopulation of neuroendocrine cells within the cyst lining showing expression of chromogranin and synaptophysin and thus confirming the diagnosis of a carcinoid tumour arising from a retrorectal cystic hamartoma (tailgut cyst). There was no cytological evidence of high grade malignancy; however, the tumour did reach circumferential margin at many points. Proximal lymph nodes from the mesorectum showed no evidence of malignancy. A NM MIBG scan also ruled out distant metastasis.


A 42-year-old man presented with morning headache. Magnetic resonance imaging (MRI) showed the mass as hypointense on T1-weighted imaging and hyperintense on T2-weighted imaging, with homogenous enhancement on gadolinium-enhanced imaging (). Cerebral angiography demonstrated that the tumor was fed by the ascending pharyngeal and occipital arteries (Figures –). Surgery was performed via a retrosigmoid lateral suboccipital approach. Gross total removal of the tumor was performed and the dural attachment was cauterized. The tumor was highly vascular, with elastic, hard, and soft reddish components. Histological examination showed that the tumor was densely cellular and was composed of oval-shaped cells with vascular spaces (). A rich network of reticulin fibers was seen between the tumor cells and vascular spaces (). MIB-1 index was 3%. The postoperative course was uneventful. Postoperative MRI showed total removal of the tumor, and the patient was discharged 1 week postoperatively. Eight months later, follow-up MRI demonstrated that no recurrence was apparent except enhancing lesion on the convexity dura at the previous excision site that is retrospectively considered to be suspicious of a recurrence (). Although the neurological status of the patient had been intact at that time, nine months after the final follow-up MRI, the patient presented with sudden onset of headache and generalized convulsions, followed by cardiorespiratory arrest. Computed tomography (CT) revealed a huge hematoma in the resected tumor cavity that resulted in cerebellar tonsillar herniation (); therefore, emergent craniotomy was performed. The hematoma was located in the subdural space and contained soft, reddish extra-axial tumor tissue with abundant vasculature. Histological examination showed a highly cellular tumor composed of spindle cells surrounding elongated blood vessels with a “staghorn” appearance (). MIB-1 index was 5%. Postoperatively, the clinical course was dismal, and two weeks postoperatively, a clinical diagnosis of brain death was confirmed. Autopsy was not performed.


A 30-year-old man was admitted as an emergency with a 24 hr history of a sudden onset painful irreducible right inguinal swelling following a meal. The groin swelling had been present for over a year associated with intermittent pain but had suddenly become bigger. The pain at presentation was associated with vomiting, progressive abdominal bloatedness, and constipation. On examination he was distressed with a BP 110/40 mmHg, pulse 88/min, respiratory rate 28/min, and a temperature of 37.5°C. There was a tender, tense, and irreducible groin swelling of ~5 cm in diameter. The diagnosis of a strangulated inguinal hernia was made. He underwent an emergency inguinal exploration following a rapid resuscitation with intravenous fluids and analgesia. A right oblique groin incision revealed an indirect hernia sac with some free fluid. The tight deep inguinal ring was widened and this revealed an intra-abdominal aperistaltic intervening loop of ileum which was ischemic at its convex margin (). There was an adherent inflamed appendix which may have been reactionary, adjacent to the hernia sac contents. The ischemic loop was covered with hot moist gauze for 10 minutes until the normal lustre and peristaltic wave returned. The appendix was freed from the hernia sac and excised (). The hernia sac was transfixed and reduced and a modified Bassini repair of the hernia was performed. This consisted of a tension-free apposition of the inguinal ligament to the conjoint tendon associated with plication of the transversalis fascia up to the deep ring using 2.0 nylon. He made good recovery and was discharged on the fifth postoperative day.


The patient in the present report is a 6.5-year-old girl who was born with right side brachial plexus injury (C5–C8), weighing 9 lb 13 oz. She did not have a documented history of shoulder dystocia and was delivered normally without the use of any instruments. There was no finger movement at birth. The patient initially presented to us when she was 8 months old with severe obstetric brachial plexus injury (). She had a flexed elbow, a shorter arm with medial rotation of the shoulder. We recommended triangle tilt surgery for the medial rotation of the shoulder with contracture and flexed elbow. Nerve transfer or nerve graft surgeries were not recommended []. Instead, the child was referred to another surgeon by her insurance company for treatment, where she underwent the following operations over 5+ years' time:brachial plexus decompression, shoulder joint reduction, decompression of subacromial space, subscapularis lengthening, glenohumeral joint ligament releases, latissimus dorsi tendon transfer, teres major tendon transfer, end-to-side axillary nerve to triceps nerve transfer, end-to-side axillary nerve to radial nerve transfer, derotational humeral osteotomy, biceps to triceps tendon transfer using cadaver donor graft, elbow lengthening with cadaver donor graft. This patient had persistent internal rotation deformity (among many other ongoing problems) related, by preoperative clinical examination and radiological studies, to an elevated scapula with forward rotation (), the SHEAR deformity []. This placed the humerus into an internally rotated position in the glenohumeral joint and, therefore, resulted in the abnormal posture prior to surgery. The patient's findings specifically indicated treatment with triangle tilt surgery [–] at our clinic. The senior author (RKN) performed the surgical procedures. The post-triangle tilt pictures of the patient are presented in Figures , , and .
Procedures performed on this patient are as follows:scapular ostectomy, spinous process/acromion process osteotomy, bone graft; acromion process, anterior glenohumeral capsule release and subscapularis tendon release, pectoralis major and minor release, subscapularis tendon transfer, clavicle osteotomy.


Patient 1 was a previously healthy 38-year-old female with an unremarkable past medical history. She was an immunocompetent nonsmoker with a normal body mass index. She presented to her general practitioner (GP) with acute left lower leg pain and swelling. Three weeks prior to this she had a progressive productive cough, swinging fever, and malaise. Her GP suspected a deep venous thrombosis (DVT) and concurrent chest infection and prescribed oral antibiotics. She was referred the same day to a DVT clinic in another institution. No DVT was identified on ultrasound with venous duplex scan but muscle swelling with no sonographically identifiable cause was noted. The DVT team were concerned about the patient and asked for a medical opinion. She was subsequently admitted under the medics.
Over the next few hours the patient started to deteriorate and her leg pain and swelling worsened. Only venous duplex was available in the DVT clinic and so the team could not rule out acute limb ischaemia. Once the team had identified diminished distal arterial pulses she was urgently referred and transferred to the vascular surgeons at our regional centre to investigate the possibility of an acute vascular event. However, she arrived haemodynamically unstable. She also complained of mild back pain, so a thromboembolic event associated with an acute aortic dissection was suspected. As dissection was queried, an urgent aortic computed tomography angiogram (CTA) was arranged, which did not identify any evidence of vascular disease. However, a cavity was noted in the lower lobe of her right lung, which was reported as a likely lung abscess ().


Patient 2 was a 61-year-old lady with a past history of poorly controlled rheumatoid arthritis and hypertension, but independent in all activities of daily living. She presented to the emergency department with acute pain in both her lower limbs and right arm. Preceding this, she had experienced generalised myalgia, anorexia, vomiting, and flu-like symptoms for 3 days. She had also received an intramuscular steroid injection into her right buttock 5 days earlier for a flare-up of rheumatoid disease. As part of her rheumatoid treatment she also took regular hydroxychloroquine, leflunomide (pyrimidine synthesis inhibitor), and weekly methotrexate alongside the steroid injections for flare-ups and would have been immunosuppressed as a result. On admission she was septic, in fast atrial fibrillation with a heart rate of 150 beats per minute, but maintaining a blood pressure of 130/80 mmHg. Her examination revealed bibasal lung crepitations and a tender, but soft right calf. There was no evidence of pyomyositis at her injection site on her right buttock. She was commenced on digoxin, antibiotics for presumed chest sepsis, and fluid resuscitation. She deteriorated, becoming hypoxic and haemodynamically unstable, and was admitted to the intensive care unit (ICU).


A 29-year-old woman with history of migraine and no other known health problems presented with a 3-week history of headache. She was taking no medication other than oral contraceptives and did not smoke.
Head computed tomography (CT) ordered by her primary care physician was normal. With a presumptive diagnosis of sinusitis, she underwent 7 days' treatment with amoxicillin/clavulanic acid. General analgesics, nonsteroidal anti-inflammatory drugs, and benzodiazepines brought no relief.
She presented at our emergency department for persistent headaches. From the onset, her symptoms were orthostatic and disappeared on lying down. During this period, the headache was frontal and orbital, nonpulsating, with photophobia and phonophobia. No rhinorrhea, lacrimation, or conjunctival injection was present. The patient reported no prior dural puncture, surgical intervention, or trauma.
Findings at physical and neurological examinations, routine blood tests, and immunology were unremarkable.
Magnetic resonance imaging (MRI) () showed thrombosis of the superior sagittal sinus and of multiple cortical cerebral veins. There was no parenchymal damage. Treatment with intravenous heparin followed by oral anticoagulation did not improve the headaches.
Radionuclide cisternography revealed both direct and indirect signs of intracranial hypotension (delayed radiotracer ascent, with retained activity in the basal cisterns and no uptake in the cerebral convexity, together with early concentration of radiotracer in the bladder). Radionuclide cisternography also detected a slight left dorsal parameningeal uptake at the T4-T5 level that could correspond to a CSF leak. The CSF opening pressure was 3 cm H2O. The composition of the CSF was normal.
A dorsal epidural blood patch provided good but temporary relief from symptoms. Three weeks later, a second blood patch achieved complete resolution of symptoms within two weeks.
Two months after onset, with the patient asymptomatic and still on oral anticoagulants, MRI showed extensive but incomplete recanalization of the superior sagittal sinus; no signs of SIH were present.
Extensive investigation for thrombophilia was negative except for hyperhomocysteinemia. Oral contraceptives were not discontinued.


A 54-year-old previously healthy man was admitted from another hospital for subarachnoid hemorrhage with left hemiparesis and hemihypesthesia.
During the previous two weeks, he had complained of a progressive headache and neck pain associated with dizziness. The headache was oppressive and holocranial, but particularly intense in the occipital region. It had strong postural variation, appearing only in the upright position and disappearing within seconds after lying down. He had no history of trauma. He developed numbness of the left limbs and fell, resulting in head injury and admission to the other hospital.
Physical examination detected a contused wound in the left temporal area. Neurological examination showed left hemiparesis with hemihypesthesia and left hemianopsia.
CT scan revealed right frontoparietal subarachnoid hemorrhage and a right parietal hematoma measuring 8 mm in diameter (reported as a probable venous malformation) (). The patient was treated with nimodipine and transferred to our hospital for further tests.
Cranial CT angiography showed hypoplasia of the A1 segment of the right anterior cerebral artery. The carotid artery, vertebral artery, and other branches of the circle of Willis were of normal size and patency.
Digital subtraction angiography to investigate the cause of intracerebral hemorrhage () found no aneurysms or arteriovenous malformations but revealed a tubular filling defect within the right frontoparietal superficial cortical vein (vein of Trolard) and signs of congestion of the other deep and superficial veins of the brain. Contrast material was slow to empty from the left transverse sinus, suggesting moderate intracranial hypertension.
After treatment with subcutaneous heparin and subsequently with oral anticoagulants, the patient's neurological deficits resolved but his headaches persisted. The headache worsened when standing and improved shortly after lying down.
Brain MRI () to investigate this headache showed diffuse pachymeningeal enhancement after gadolinium administration, suggestive of liquoral hypotension, and a small right parietal hematoma in the acute phase (correlating with the CT findings).
Radionuclide cisternography showed delayed ascent of radiotracer, with no uptake in the cerebral convexity, and retained activity in the basal cisterns, together with intense renal and bladder activity (indirect signs of intracranial hypotension). It was impossible to locate the level of the CSF leak with certainty, although it was thought that some parameningeal punctiform images immediately to the left of T3-T4 might correspond to a leak.
CSF opening pressure was 2 cm H2O; the composition of the CSF was normal.
The patient was diagnosed with intracranial hypotension associated with intraparenchymal hematoma secondary to cortical venous thrombosis. Treatment with oral anticoagulants and blood patch brought about complete resolution of symptoms.


A 20-year-old woman was admitted to our clinic with nasal obstruction, postnasal drip, and intermittent headache for 3 years.
Anterior rhinoscopy and nasal endoscopic evaluation revealed that the nasal septum was deviated to the left, bilaterally inferior and middle conchae were hypertrophied, and the nasal mucosa was normal.
Paranasal sinus computed tomography (CT) scan with coronal plane views revealed that the inferior, middle, and superior turbinates were pneumatised bilaterally, a moderate nasal septum deviation to the left with a spur formation and inflammatory mucosal thickening in the right maxillary sinus (Figures and ).
After giving information to the patient about the surgical procedure we performed an endoscopic surgery including lateral marsupialisation for both middle turbinate pneumatizations, a limited septoplasty and crushing and outfracture of the inferior turbinates. For both inferior turbinate pneumatizations, the bullous structures were reduced by crushing and outfracture. Superior turbinates were left intact since they had no visible clinical significance. She was discharged from the hospital 1 day after the operation and any postoperative complications were not seen. Follow-up evaluation indicated that the patient's symptoms had improved dramatically and she had no further complaints.


A 50-year-old previously well Sri Lankan male patient presented to the Oro-Maxillo-Facial (OMF) surgical unit and then referred to the general medical unit with the complaint of sudden onset swelling of lips, tongue and face for 24 hours. It was painless but progressive over the day. There was no peri-orbital swelling or peripheral edema. He had not experienced dyspnea, wheezing, abdominal pain or body itching. There were no identifiable precipitating factors attributing to angioedema. He denied any history of atopy or allergy. It was the first episode of this nature that he had experienced in his life and there were no previous documented cases of angioedema in his family. He was not on any short or long term medication. On detailed history, patient had experienced loss of appetite and loss of weight (8 kg) over the past 3 months but denied fever, night sweats, chronic cough, joint swelling, oral ulcers and rashes.
On examination, his weight was 49 kg, swelling of the tongue, lips and perioral region were noted. There was mild pallor without icterus but no lymphadenopathy, hepato-splenomegaly or abdominal masses. There were no dental caries, oral ulcers, joint swelling, rashes or bone tenderness. He had a regular pulse with blood pressure of 120/80 mmHg. Respiratory, neurological and loco-motor system examination were unremarkable.
Subsequent investigations revealed hemoglobin of 10.3 g/dL, white cell count of 5.52×103/μL (neutrophils – 38.6%, lymphocytes – 45%, monocytes-14%, eosinophils-1.3% and basophils-0.7%) and a platelet count of 207×103/μL. Blood picture showed normochromic normocytic red cells with marked rouleaux formation, total white cell count was normal with lymphocytic predominance and normal platelets. No atypical cells were seen. Erythrocyte sedimentation rate was 130 mm in 1st hour. Serum lactate dehydrogenase level was 960 IU/L (normal: 100–300 IU/L), C-reactive protein, liver profile and renal profile were normal. Mantoux test was negative. Serology for anti-nuclear antibodies (ANA), retroviral studies, Venereal disease research laboratory (VDRL) test, hepatitis B surface antigen, hepatitis C antibodies, Epstein-Barr virus and cytomegalovirus antibodies were negative.
C1 esterase inhibitor protein level was 23.71 mg/dl (15-35 mg/dL; measured by radio immunediffusion technique) and the functional percentage of C1 esterase inhibitor was 15% (normal >67%, equivocal 41-67%, abnormal <41%) at the time of angioedema. The serum compliment levels were as follows; C3 level – 110 mg/dL (75-165 mg/dL), C4 – 2 mg/dl (14-54 mg/dL) and C1q – 26% (75 -125%).
Bone marrow showed marked hyper cellularity with diffuse infiltration of homogenously mature lymphoid cells (70%). Blasts cells were 1% of marrow nucleated cells. Erythropoiesis, granulopoiesis and megakaryopoiesis were markedly suppressed. Features were compatible with bone marrow infiltration by low grade non-Hodgkin lymphoma (NHL). Immunohistochemistry of the bone marrow revealed CD20 positivity with negative results for CD10, CD3, CD138, CD23 and terminal deoxynucleotidyl transferase (TdT) markers, indicating compatibility with B-cell non-Hodgkin lymphoma. Soluble interleukin 2 receptor levels were not carried out due to unavailability of the laboratory facilities.
Electrocardiogram showed sinus rhythm and chest roentgenogram was normal. Ultrasound scan of the abdomen showed mild splenomegaly (15 cm). Contrast enhanced computed tomography (CT) scan of the chest, abdomen and pelvis showed right pretracheal and subcarinal lymphadenopathy with mild splenomegaly compatible with the diagnosis of lymphoma (Figure ).
Patient was diagnosed to have B cell NHL with an episode of acquired angioedema on presentation. He did not have any life threatening episodes of angioedema but was managed initially with steroids and danazole, to which he responded slowly but completely and started on chemotherapy for the management of NHL. He is on oncology clinic follow-up and he did not develop any further episodes of angioedema thereafter up to 6 months follow-up after starting chemotherapy. Subsequent measurements of complement levels including C4 and C1q were within normal limits.


A 7-year-old boy was referred to the rheumatology clinic with high grade fever (T = 39°C) and warm, erythematous, and indurated plaque above the left knee with the size of about 8 × 10 cm diameters (). According to the previous records of this patient, these indurated plaques had been changed toward abscesses formation and then spontaneous drainage had occurred after about 6 to 7 days, and finally these lesions healed with scars. He had two scars of previous lesions on the outer side of the left thigh and the outer side of right shoulder.
He was born at 33rd week of gestational age, with about 2130 g birth weight. He had low Apgar scores at the first and fifth minutes of the birth time. He received surfactant due to prematurity of the lungs. He stayed in hospital for about one month. During the admission he had fever and plantar cellulitis, cellulitis of the right testis, and abscess and necrosis of the root of umbilical cord. So, he received a combination of meropenem and vancomycin antibiotics. The smears and cultures of these lesions were negative. The histopathology of plantar cellulitis represented granulation tissues with nonspecific inflammation. The umbilical cord had delay in seperation for about 45 days. So, the clinicians decided to cut it off. The first complete blood count of his life revealed white blood cell count (WBC) of 9700 per mm3, with 26% neutrophils and 61% lymphocytes, hemoglobin (Hb) of 13.4 g/dL, and the platelet (PLT) count of 443000 per mm3. During the first year of life, he had seven admissions for recurrent respiratory infections.
After the first year, he had repetitive admissions due to fever and leukocytosis. He had history of splenic lesions with left lobar pneumonia in second year. About 2 months later, a lung lesion appeared in the left upper lobe with about 10 × 10 cm size. After that, until 7th year of age, he had shoulder lesion, gluteal lesion, splenic lesions, kidney lesions (enlargement of both kidneys with multiple low-density areas in ultrasonography), left thigh lesion, and pneumonia. In one of these admissions, he presented with pyoderma gangrenosum (PG) and chest wall lesion. In another admission, the erythema nodosum-like lesions on the feet appeared. These recurrences were usually preceded by upper respiratory tract or gastrointestinal infections.
The laboratory data in one admission with abscesses-like formation in upper lobe of right lung revealed white blood cell count 68300 per mm3, with 82% neutrophils and 10% lymphocytes, hemoglobin 7 g/dL, platelet count 694000 per mm3, ESR 103 mm/hour, and CRP 78 mg/dL. After treatment with broad spectrum antibiotics for about 10–14 days, the laboratory data demonstrated WBC 10100 per mm3, with 25% neutrophils, and 65% lymphocytes, Hb 8.9 g/dL, PLT 724000 per mm3, ESR 41 mm/hour, and CRP 6.1 mg/dL. In all admissions, high grade fever, leukocytosis, and a noticeable increase in erythrocyte sedimentation rate and C-reactive protein were noted. After about 10–14 days, almost all of the laboratory data regressed to nearly normal limits.
In these seven years, all of the cultures and smears for infections were negative. Smears of the lesions showed many white blood cells with 95% neutrophils and 5% lymphocytes. In evaluation for immunodeficiency disorders, CD3, CD4, CD8, CD16, CD19, and CD56 were within the normal limits. The nitroblue tetrazolium (NBT) test was 100 percent. The genetic evaluations for the leukocyte adhesion deficiency (LAD) were negative. In the bone marrow aspiration, the proportion of the myeloid to erythroid increased to 30–40/1, with no evidence of malignancy. The autoantibodies [antinuclear antibodies, rheumatoid factor, and antimyeloperoxidase-antineutrophil cytoplasmic antibody (ANCA)] were negative. The serum levels of immunoglobulins IgG, IgM, IgA, C3, C4, CH50, and angiotensin-converting enzyme (ACE) were normal.
In spite of these results, at the end of 3rd year of life, with suspicion of the immunodeficiency disorders, intravenous immune globulin (IVIG) was initiated monthly. Also, trimethoprim-sulfamethoxazole was added for the prophylaxis. With this treatment, the intervals between the recurrences were prolonged.
The methylprednisolone pulse (30 mg/kg) was initiated with the diagnosis of Sweet's syndrome (SS). Then, all of the signs and symptoms improved rapidly: the fever resolved in less than 24 hours, the lesions did not progress to abscess and resolved without any scars. After discharge, prednisolone with the dose of 0.5–0.75 mg/kg/day was prescribed.
After about 5 months, he was admitted again with tachypnea and high grade fever and leukocytosis. In this admission, he did not have any skin lesion. Chest X-ray showed pleural effusion in both sides especially in the right side (). After infusion of one methylprednisolone pulse, the fever and tachypnea resolved rapidly in about 24 hours. The leukocytosis improved in less than 7 days. In this admission, the colchicine (1 mg/kg) was added to the oral prednisolone after discharge. The prednisolone was tapered slowly (0.25 mg/kg/d every 2 months). Fortunately, our patient had no flare-up after 6 months.


A 25-year-old Asian woman, gravida 2, para 1, reported to our hospital at 33 weeks of gestation with severe abdominal pain. She had a BMI of 24 and a negative obstetric history in the previous pregnancy. The abdominal pain had started three hours prior to admission, like a vague posterior abdominal colicky pain. The patient and her husband did not relate physical efforts prior the onset of the pain. She did not have abdominal surgery in the past. The course of pregnancy was regular including fetal growth.
At the admission in our hospital the patient appeared pale, exhausted, unable to walk, and maintaining an upright position. She had nausea and episodes of vomiting. At triage blood pressure was 90–60 mmHg, heart rate was 120 beats per minute, and temperature was 37.1°C. Abdominal pain was deep, diffuse, with no signs of peritonitis or lateral renal colic. Uterine growth was appropriate for gestational age and the organ was tender on palpation. On vaginal examination cervix was closed and there was no vaginal bleeding or abnormal vaginal discharges.
Ultrasonography showed a single fetus in transverse lie, with a normal amniotic fluid. Placental location was clearly “anterior” with vast subchorionic hypoechogenic area interpreted as a sign of abruptio placentae. Placental tissue was hyperechogenic and thicker than normal. Fetal heart rate at ultrasound examination was 90 beats per minute. It was not possible to visualize and interrogate uterine arteries in their typical anatomical sites by Color Doppler and Pulsed Wave Doppler.
An emergency caesarean section under general anesthesia was performed. Abdomen was opened by standard Stark incision. Peritoneal cavity contained approximately 100 milliliters of coagulated blood. Hysterotomy was done on “the lower uterine segment.” At amniorrhexis the amniotic fluid was clear. A male fetus in transverse lie was delivered by breech extraction. The fetus was alive but pale and hypotonic. A large quantity of fresh clots leaked from the uterus during the afterbirth. The placenta showed a large subchorionic haematoma. The uterus was ischemic and extremely floppy. At exteriorization of the uterus we observed the anterior crossing over of the proper ovarian ligaments. At that time we realized that the uterus was rotated by 180 degrees. We performed the counterclockwise detorsion of the uterus and confirmed a low transverse incision of the posterior wall of the organ. In a matter of seconds after detorsion the myometrium reverted to a normal colour and consistency. We also observed a superficial bleeding laceration of the left part of the posterior wall that probably was the cause of the hemoperitoneum. There were no myomas or uterine malformations. The posterior uterine incision was closed by a standard two-layer suture. The uterus, after the administration of uterotonic, was properly contracted and it was then replaced into the abdomen. The estimated loss of blood was 1100 milliliters. The placenta was sent for pathologic examination that confirmed the clinical diagnosis of abruptio.
Maternal conditions were stable after two hours. Haemoglobin concentration decreased from 10.8 grams/liter at admission to 8.5 grams/liter. White blood cell count was 19.000/milliliter, almost halved from admission values (31.000/milliliter). C-reactive protein had always been negative. Analysing the previous reports and ultrasound images in the patient's pregnancy record, we confirmed that a posterior placental position had been observed at 22 weeks' scan, exactly the opposite of the anterior position we have seen by ultrasound at the time of hospital admission.
The newborn at birth weighted 2200 grams, Apgar score was 1, 3, and 5 at 1, 5, and 10 minutes, cord pH was 6.61, and base deficit was 28 millimol/liter.
A severe acute cerebral haemorrhage was diagnosed. The newborn was admitted at Neonatal Intensive Care Unit (NICU), never recovered his vital functions, and died sixty days after birth.
The woman was discharged three days after caesarian section.


This included 33-year-old, Caucasian male, 75 kg in weight and 1.66 meters in height, born through a normal pregnancy and delivery. Fourth sibling of nonconsanguineous parents, with family history of mitochondrial encephalopathy (), his mother with congenital deafness, died at age 48 due to an haemorrhagic stroke; two older brothers died at ages 16 and 34, with the diagnosis of Leigh syndrome; the patient's 34-year-old brother revealed cognitive impairment, polyneuropathy, and epilepsy; and two younger sisters revealed cognitive impairment, ataxia, peripheral neuropathy, and neurodevelopmental delay, respectively. The patient presented with fatigue, exercise intolerance, and learning difficulties since childhood. Despite cognitive deficits the patient lived independently with full function of daily living skills. In the last year he denoted progressive decline of the muscle strength. At neurological examination overall hypotonia and proximal tetraparesis, normal deep tendon reflexes in upper and lower extremities, and plantar flexor response bilaterally were present. We did not observe other signs, like atrophy, pyramidal signs, sensory, cerebellum, or cranial nerves dysfunction. For the remainder of physical examination, the patient had abnormalities of the joints, including hammertoes. There were no other systemic changes, including cardiac, endocrine, and hepatic dysfunction and no history of seizures.
Routine laboratory analyses like haemoglobin, haematocrit, white cell count, differential white cell count, platelet count, serum ion levels, albumin, glucose, creatine kinase activity, ammonia, and liver and kidney functions were normal; spinal cord and brain MRI were normal, with no significant foci of abnormal signal in the brain or in the cerebellum parenchyma; ECG and transthoracic echocardiography were normal. The remaining study highlights an increase in the determination of serum lactate 2.95 mmol/L at rest and 2.78 mmol/L after exercise (reference values 0.95–2.30 and 0.80–1.50, resp.) and lactate/pyruvate ratio of 25.0 at rest and 20.9 after exercise (ratio normal 10–28 and 11–18, resp.), as well as elevated cerebrospinal fluid lactate; the nerve conduction studies (NCS) showed normal sensory studies but CMAP studies of upper and lower limbs were slightly reduced with normal range latency and velocity and without features of conduction block. The electromyogram (EMG) showed no spontaneous activity, polyphasic motor unit potentials (MUPs) with increased amplitude, increased duration, and decrease recruitment on right first dorsal interosseous muscle, extensor digitorum communis, biceps brachialis, tibialis anterior, medial gastrocnemius, and vastus lateralis in lower limbs. Repetitive stimulation did not reveal decrement. NCS and EMG revealed signs of chronic neurogenic compromise that could suggest motor neuron dysfunction. Biopsy of muscle and nerve exhibited marked variation in the fiber size by the presence of large groups of muscle atrophy and hypertrophy of muscle fibers on healthy fascicles, “fiber-type-grouping;” a slight increase in the number of nuclear centralizations, lipid accumulation, and crescent-shaped subsarcolemmal hyperchromatic aggregates on oxidative reaction SDH corresponded to the accumulation of mitochondria. We were not able to detect clear “ragged-red fibers” in Gomori Trichrome stain. These features are suggestive of spinal muscular atrophy (SMA) with some mitochondrial alterations (Figures –). EEG showed generalized slowing without epileptiform discharges, with no ophthalmologic signs such as retinitis pigmentosa or optic atrophy. A genetic study revealed an apparent homoplasmic T>C substitution at nucleotide position 9185, in MTATP6, that replaces a highly conserved leucine to proline at codon 220 (p.L220P); the genetic study of SMA did not detect any homozygous deletion in exon 7 or heterozygosity of exons 7 and 8, in the SMN1 gene. The mitochondriopathy was confirmed, according to clinical and genetic criteria of Nijmegen Clinical Criteria for Mitochondrial Disease [] despite the atypical features. The patient performed thiamine (50 mg/day), coenzyme Q10 (400 mg/day), and L-carnitine (4000 mg/dia), for 1 year, with slight clinical improvement.
The patient's sister, 22-year-old fifth sibling, revealed mild cognitive impairment, ataxia, and exercise intolerance 6 years ago. Like her brother she was independent of activities of daily living. At exam we observed hypertelorism, pes cavus and hammertoes, proximal muscular weakness, and ataxia. The laboratory study highlights an increase of lactate and lactate/pyruvate ratio in serum, at rest and after exercise; EMG revealed axonal peripheral neuropathy, predominantly in lower limbs; MRI showed cerebellar atrophy and muscle biopsy were normal. Cardiac study with ECG and transthoracic echocardiography were normal. The genetic study displayed homoplasmic m.9185T>C mutation. The remaining study was normal.


A 55-year-old African-American male with significant smoking and drinking history presented with progressive dyspnea and hoarseness over five months. He had stridor and multiple enlarged right lymph nodes (level II and level III) on exam. Flexible laryngoscopy revealed an obstructing mass of the glottis; however the vocal fold mobility could not be assessed. Computed tomography (CT) image of the neck revealed an extensive transglottic mass with significant laryngeal narrowing and cartilage invasion as well as multiple enlarged right neck and retropharyngeal lymph nodes (). Urgent tracheostomy was performed due to airway compromise. Direct laryngoscopy revealed a transglottic mass that originated at the level of the vocal folds bilaterally, extending to the subglottic region approximately 1 cm past the true vocal cords. The inferior extent of the transglottic mass was difficult to discern. Multiple biopsies were performed and pathology revealed poorly differentiated squamous cell carcinoma. Chest CT imaging revealed no distant metastases.
After discussion of treatment options, the patient underwent total laryngectomy with bilateral neck dissections, cricopharyngeal myotomy, and primary tracheoesophageal puncture. Invasive, poorly differentiated squamous cell carcinoma was noted in the glottis and supraglottis with cartilage invasion. Metastases to bilateral cervical lymph nodes and right retropharyngeal lymph nodes with extracapsular extension were noted. Surgical margins were free of tumor. The final pathologic stage was determined to be Stage IVA (T4aN2cM0).
Due to the presence of high-risk features, including multiple cervical and retropharyngeal lymph nodes involved by the tumor with extracapsular extension, the plan was to proceed with adjuvant concurrent chemoradiation with cisplatin. However, his recovery was complicated by significant dysphagia, unsuccessful attempts at percutaneous endoscopic gastrostomy tube placement, 12 kg weight loss, Escherichia coli bacteremia, and multiple readmissions to the hospital that precluded conduction of positron emission tomography (PET)/CT scan. Less than two months after surgery, the patient reported pain in the left thigh and back. On examination, he was found to have bilateral, firm, nontender thigh masses, each measuring approximately 6 cm in maximal diameter with no associated erythema, warmth, or fluctuance. CT scan of the lower extremities showed a contrast-enhancing mass on the left vastus medialis measuring 4.5 cm × 4.5 cm × 7.7 cm and a lesion on the right vastus lateralis measuring 3.3 cm × 2.2 cm × 4.7 cm. Magnetic resonance imaging (MRI) was also performed to further evaluate the masses (). Ultrasound-guided core biopsy revealed metastatic squamous cell carcinoma in both thigh masses.
Treatment options were discussed and the patient agreed to start palliative chemotherapy. However, he was readmitted one week later complaining of shortness of breath, increasing back pain, and new neck masses. A CT of the neck showed new soft tissue masses to the left of the patient's stoma, necrotic prevertebral soft tissue masses, and new cervical and supraclavicular nodes. MRI revealed a pathological compression fracture of L3 with posterior protrusion of bony cortex into the spinal canal. Due to the rapidly progressive course of the disease and poor performance status, the decision was made to proceed with palliative radiation to the spine only and he was placed under hospice care. He passed away within 4 months of the initial diagnosis of cancer.


Mrs. OB was a 32-year-old G4P3+0 (3 alive) trader who presented on the 5th of March, 2013, in the gynaecological emergency room with abdominal pain of 4 days' duration and bleeding per vaginam of 2 days' duration following 8 weeks of amenorrhea.
Examination revealed that she was pale and dehydrated with a respiratory rate of 28 excursions per minute, pulse rate was 104 beats per minute, and blood pressure was 134/74 mmHg. There was generalized abdominal tenderness; pelvic examination revealed cervical os that was closed, with tenderness in the fornices, and the pouch of Douglas was full. The uterine size could not be assessed because of tenderness.
A clinical impression of suspected ruptured tubal gestation was made; urine pregnancy test was positive. Packed cell volume was 18%. Urgent abdominopelvic ultrasound scanning revealed bulky uterus measuring 11.37 × 4.83 cm in its longitudinal and transverse diameters. It showed normal myometrial echogenicity. There was a decidual reaction within the endometrium. A large mixed echogenic structure with irregular and ill-defined margins was seen in the right adnexum suggestive of ruptured ectopic gestation with surrounding hematoma. There was gross increase in intraperitoneal fluid suggestive of haemoperitoneum.
The patient was resuscitated with intravenous fluids and informed consent for exploratory laparotomy was obtained. Intraoperative findings included 2.7 litres of haemoperitoneum, ruptured right tubal ampullary gestation, and bulbous fatty mass at the fimbrial portion of the left tube measuring 4 cm × 6 cm, and the uterus was bulky. At laparotomy she had bilateral salpingectomy.
The patient was transfused with 3 units of whole blood. The posttransfusion packed cell volume was 25%. She made significant improvement and she was discharged home on the 7th postoperative day.
She was seen in gynaecological clinic 2 weeks later with histology report of specimens which revealed left and right fallopian tubes showing distension of the lamina by chorionic villi of varying sizes, hemorrhage, and decidualized stroma. Also seen are multiple granulomas with calcified ova of S. haematobium with their characteristic terminal spines, features consistent with bilateral ectopic gestation with Schistosoma induced salpingitis. She was comanaged with a parasitologist. She, however, declined urine and stool microscopy before using oral praziquantel (20 mg/kg twice a day for one day), after which urine and stool microscopy for ova of parasites done a month after medication was negative.


A 40-year-old Japanese male patient presented with acute paraplegia after extending his trunk during bathing. Before onset, he was doing well without any paralysis. He had untreated diabetes. The patient was admitted to a local hospital and then transferred to our department for surgery.
On admission, the patient was awake and alert, and did not complain of either headache or neck pain. There were no signs or family history of von Hippel–Lindau disease. Initial physical examination revealed that muscle strength and sensation of his upper extremities were normal. There was complete loss of sensation to pinprick below the 7th thoracic vertebral level (T7) including the perineal region; however, touch sense was preserved except for the feet bilaterally. There was complete motor loss in his right lower extremity and severe weakness in his left lower extremity, which had a manual muscle testing grade of from 1 to 2. Patellar and Achilles tendon reflexes were absent bilaterally. There was no apparent Babinski reflex.Magnetic resonance (MR) imaging of the spinal cord revealed a syrinx extending from the bulbs to the lumbar spinal cord, and intramedullary hemorrhage (Figure A,B). An intramedullary mass lesion was detected at the level of T8 in a gadolinium enhanced-MR image (Figure C, arrow). Spinal angiography revealed an intramedullary tumor stain at the level of T8 with a feeding artery branch from an intercostal artery into the tumor and a dilated and tortuous draining vein mainly located on the dorsal surface of the spinal cord (Figure D).
Therefore we diagnosed the problem as intramedullary hemorrhage caused by the hemangioblastoma. We planned to perform tumor extirpation as elected surgery in the subacute stage of hemorrhage, and we decided to wait for at least 3 to 4 weeks after the onset.
After admission, the patient showed slight motor and sensory recovery. The patient was treated conservatively with physiotherapy under hospitalization. One month after the onset, he could extend his right knee and ankle, and he recovered sensation to pinprick on his trunk.
One month after the onset, the patient underwent surgery. Under general anesthesia, a T7–T9 laminectomy followed by extirpation of the intramedullary hemangioblastoma was performed. The tumor was completely removed. Pathological findings revealed a typical hemangioblastoma. At his final follow-up visit, the patient showed no apparent neurological recovery.


A 28-year-old Arabic man was referred to our unit after the discovery of a right adrenal incidentaloma during a workup for right subcostal pain. The patient had no other symptoms. Serum laboratory values included normal 24-hour urinary native catecholamine and metanephrine levels, normal adrenal corticotrophin and cortisol rhythms, normal 24-hour urinary free cortisol level, normal adrenal plasma aldosterone/plasma renin activity ratio, and normal androgen hormone levels. Computed tomography (CT) showed a well-circumscribed, homogeneous right adrenal tumor measuring 10 × 7 × 8 cm and exhibiting peripheral punctate calcifications. The density of this mass on unenhanced images was lower than that of muscle (Figure ). Additionally, the mass was poorly enhanced with contrast medium (Figure ). It was quite large, extending across the midline and behind the inferior vena cava. It surrounded the right renal artery and came into close contact with the left renal vein. On T1-weighted magnetic resonance imaging (MRI) (Figure ), the tumor was visualized as a homogeneous mass with a signal intensity lower than that of the liver. On T2-weighted MRI (Figures and ), the lesion was heterogeneous with a signal intensity greater than that of the liver. No variations in the signal intensity were noted on chemical shift imaging (Figure ). Poor and delayed tumor enhancement was observed after intravenous administration of gadolinium (Figure ). Surgical resection was performed based on suspicion for a nonsecreting adrenal mass. Surgical exploration revealed a large right adrenal mass extending across the midline. The mass was completely resected. Pathological examination of the resected specimen revealed a mature GN.


A 66-year-old Canadian Caucasian woman presented to her family doctor in December 2012 with a 10-day history of explosive watery diarrhea. This was accompanied by an initial fever and chills for two days, abdominal cramping, nausea and poor appetite but no rectal bleeding. There had been an 8kg weight loss over the previous four months. There was no history of recent travel or infectious contacts; however she had made weekly visits to a nursing home for some months prior. Amoxicillin was prescribed for a dental infection four months previously. Approximately 14 months and again at nine months prior to this present episode, she had bouts of diarrhea lasting about one week. Past medical and family history was noncontributory. Medications included atorvastatin and diclofenac sodium/misoprostol. She looked thin and her examination showed normal vital signs, no fever and generalized abdominal tenderness, worse in the left lower quadrant. A further general physical exam was negative for other sources of infection. Lab investigations showed normal results for complete blood count, electrolytes, blood urea nitrogen, creatinine, estimated glomerular filtration rate, glucose and liver function. Stools for culture and sensitivity and C. difficile toxin were requested. The differential diagnosis included an infectious etiology, inflammatory bowel disease or CDI. Ciprofloxacin and metronidazole were started but ciprofloxacin was discontinued following a negative sigmoidoscopy and positive C. difficile toxin test result the following day. Metronidazole was continued for 10 days along with probiotics, but severe diarrhea returned three days after finishing. Severe diarrhea recurred despite further treatment with vancomycin. Her repeat blood tests were normal apart from an increased serum calcium level of 2.7mmol/L (normal range: 2.10 to 2.55mmol/L). Her repeat C. difficile toxin test was again positive. Fidaxomicin 200mg orally twice a day was prescribed for 10 days, however symptoms recurred. Vancomycin was restarted while arrangements were investigated for out-of-province treatment with fecal transplantation.
Our patient and her husband asked their family doctor about home fecal transplantation, and had with them a copy of a journal article on home fecal transplantation by Silverman et al. []. The family doctor contacted the lead author by phone for further discussion and details about the procedure. Our patient’s healthy daughter was selected as donor, and her husband was screened in the event that another donor was required. Screening tests suggested by Silverman et al. are listed in Table .
Home fecal transplant, using the protocol recommended by Silverman et al. [], was done within a week, with the assistance of our patient’s husband and daughter. Vancomycin was stopped for 48 hours prior to the procedure and Saccharomyces boulardii was taken during the transplant and for 60 days after. Donor stool in the amount of 50ml, obtained immediately prior to the procedure, was added to 200ml of normal saline in a blender. The contents were blended to a ‘milkshake’ consistency and emptied into an enema bag. The mixture was administered by her family and she lay supine on her left side for five hours afterwards to prevent defecation.
Diarrhea recurred and so the transplant was repeated on day three, with her lying supine for seven hours (two hours longer than with the previous procedure). The diarrhea was resolved immediately, however both our patient and her family decided to repeat the transplant using her husband as the donor two weeks later when the symptoms returned. There was immediate resolution of the diarrhea with no further recurrence of symptoms. Her appetite and energy returned and she had gained 15lbs two months after the transplant.
She underwent further investigations for hypercalcemia during this time and subsequently underwent a parathyroidectomy for removal of a parathyroid adenoma.


A 64-year-old male presented with a 40-mm ATC in the right lobe of the thyroid. The tumor involved the tracheal wall and recurrent laryngeal nerve, and a 30-mm lymph node metastasis was identified at level IV in the right neck. We performed locally curative surgery, including shaving of the tracheal wall and recurrent nerve resection, and also administered 60 Gy of postoperative external beam radiation (EBRT). DC therapy was carried out as adjuvant therapy. An 80 % reduction in doses was performed after three courses, and the therapy was completely withdrawn after five courses because of FN. The patient survived for 3 years after the initiation of DC therapy without recurrence, then local recurrence developed and he died of the disease.


A 62-year-old female presented with an ATC component in a lymph node (level III; diameter, 30 mm) four years after lobectomy for papillary thyroid carcinoma (PTC). She underwent neck dissection and received 60 Gy of postoperative EBRT, then, DC therapy was initiated as adjuvant therapy. She completed six courses and remains alive without recurrence as of 5 years and 4 months after neck dissection, and 5 years after the initiation of DC therapy.


A 58-year-old female presented with a 53-mm ATC in the right thyroid lobe that had invaded into the superior mediastinum and multiple lung metastases. We initiated DC therapy for this patient as induction chemotherapy. The patient showed a partial response (PR) for the thyroid lesion and a complete response (CR) for the lung lesions after four courses of therapy (Fig. ). We then performed locally curative surgery, including resection of the right recurrent laryngeal nerve, and shaving of the trachea and esophagus, resection of the cicatrices around the right internal jugular vein and prevertebral muscles. However, the patient presented with convulsions and disturbance of consciousness 1 week after surgery, and brain metastases were identified on CT. We performed cranial irradiation and she recovered thereafter. However, she subsequently developed bone, liver, and skin metastases and both a recurrence of lung metastasis and local recurrence. She died of disseminated intravascular coagulation 6 months after the initiation of DC therapy, and 3 months after surgery.


A male patient had undergone total thyroidectomy for PTC when he was 5-year old. He developed multiple lung metastases when he was 22-year old, and underwent radioactive iodine therapies. The lung metastasis remained, but had not progressed after therapy. He presented with rapid enlargement of a right level III lymph node (diameter 51 mm) at age 43, and an ATC component was detected. We performed neck dissection and administered 60 Gy of postoperative EBRT. The lung metastasis showed rapid progression 3 months later, so DC therapy was initiated. The lung metastasis was defined as stable disease (SD) after three courses, and six courses were completed. A month after stopping DC therapy, the lung metastasis progressed rapidly. He died 7 months (30 weeks) after the initiation of DC therapy, which was 9 months (42 weeks) after surgery.


A 70-year-old male presented with a 40-mm ATC in the right thyroid lobe. Locally curative surgery was performed, including shaving of the trachea and esophagus, and resection of the right recurrent laryngeal nerve. We initiated postoperative concurrent chemoradiotherapy (CRT) that consisted of 40 Gy irradiation plus low-dose cisplatin (5 mg/m2) on days 1–5, 8–12, 15–19 and 22–26, 5-fluorouracil (200 mg/m2) on days 1–26, and doxorubicin (20 mg/m2) on days 1 and 15 []. Fourteen months postoperatively, we detected multiple lung nodules and a pathological examination showed anaplastic thyroid carcinoma component in those nodule, and, therefore, DC therapy was initiated. He underwent five courses of DC therapy, but cisplatin was not utilized in the fifth course because of grade 2 renal dysfunction. The patient showed a PR for the lung metastasis after the fourth course (Fig. ), but progressive disease (PD) developed after the fifth course. He died of a progression of lung metastasis and survived for 1 year and 9 months (91 weeks) after surgery, which was 6 months (27 weeks) after the initiation of DC therapy.


A 58-year-old male presented with a 58-mm ATC in the left thyroid lobe and an 18-mm lymph node metastasis at level IV in the left neck. He also showed multiple lung metastases, but these were limited to 12 mm or smaller in diameter, so we performed locally curative surgery, including shaving of the tracheal wall and esophagus, and resection of the left recurrent nerve and internal jugular vein. The multiple lung metastases showed rapid progression with CT and high level accumulation with 18F-fluorodeoxy glucose positron emission tomography (FDG-PET) a month after surgery, so we assessed these metastases to be ATC and, therefore, administered DC therapy. He showed a PR for the lung metastases after four courses of DC therapy (Fig. ), and six courses were completed, but cisplatin was not utilized in the sixth course because of grade 2 renal dysfunction. The patient has continued docetaxel monotherapy every 4 weeks and has remained alive for 4 years and 4 months after surgery (227 weeks), and 4 years and 3 months after the initiation of DC therapy.


A 70-year-old male presented with a 10-mm thyroid primary tumor in the left lobe, bilateral neck lymph node metastases up to 50 mm in diameter that involved the left common carotid artery and multiple lung metastases. We performed locally curative surgery, including the careful dissection of the carotid artery, and resection of the left recurrent nerve, internal jugular vein and left clavicle. The postoperative pathological examination revealed that both the primary thyroid tumor and lymph node metastasis were ATC. Bone metastases in the thoracic vertebrae were identified with FDG-PET 2 months after surgery, and DC therapy was initiated with an 80 % reduction of the doses because of PS1. The patient showed SD after three courses, but PD after five courses. He thereafter developed lung metastasis and died at 1 year (52 weeks) after surgery, which was 8 months (38 weeks) after the initiation of DC therapy.


A 72-year-old female presented with a 20-mm papillary thyroid carcinoma in the right thyroid lobe and bilateral neck lymph node metastases, and multiple lung metastases up to 10 mm in diameter were also detected. She underwent locally curative surgery, including partial resection of the tracheal wall and resection of the recurrent laryngeal nerve. The pathology showed an anaplastic cancer component only in a lymph node. We performed postoperative CRT comprising 40 Gy of irradiation plus low-dose cisplatin, 5-fluorouracil, and doxorubicin [], but multiple lung metastases showed a rapid enlargement and high level accumulation on FDG-PET, and these metastases were identified as ATC at 5 months after surgery. We initiated DC therapy for the lung metastasis with an 80 % dose reduction because of grade 1 renal dysfunction due to the previous CRT. The patient showed SD after three courses and completed six total courses. The patient remains alive, and the lung metastases have been stable for 2 years and 10 months (148 weeks) after the initiation of DC therapy, which was 3 years and 4 months (174 weeks) after surgery.


An 18-month-old boy presented to the endocrinology clinic with rapid progression of growth and increased head circumference almost since birth. He had been delivered at 38 weeks’ gestation by caesarean section due to breech presentation. Birth weight has been 3000 g and length 50 cm. He was the first child of non-consanguineous parents and his family history was unremarkable. On physical examination, the height was 90 cm [+2.4 standard deviation (SD)] and the weight was 15.5 kg (+2.6 SD). His head circumference was 54 cm (+2.6 SD). The volume of each testis was 4 mL. The psychomotor development was normal. The basal luteinizing hormone (LH) level was high (1.2 mIU/mL). After administration of LH releasing hormone stimulating test, serum LH and follicle-stimulating hormone values rose to peak levels of 7.2 mIU/mL and 2.6 mIU/mL, respectively. Bone age as determined according to Greulich and Pyle method was 3 years. Brain magnetic resonance imaging (MRI) was performed to rule out intracranial lesions. The finding of MRI revealed an unilocular large cyst extending toward the vertex in the left middle cranial fossa (). The pituitary stalk was deviated to the right due to the compressive effect. A cysto-peritoneal shunt was implemented by neurosurgeons. Postoperatively, a hormonal assay during three months showed decreased LH (0.05 mIU/mL). Pubertal development regressed within 1 year without medical treatment.


A male patient aged 11 years and 6 months was referred to the endocrinology department because of short stature. He was born at 40 weeks’ gestation by normal vaginal delivery. His birth weight and length have been both normal. His growth throughout infancy and childhood was subnormal among peers. He was the second child of non-consanguineous parents and two other siblings were healthy. His family history is unremarkable. He had suffered a scalp laceration and cranial bone fracture after a traffic accident when he was 7 years old. At that time, an AC in the middle cranial fossa had been incidentally detected. On physical examination, his height was 117 cm (-4.3 SD) and the weight was 20 kg (+2 SD). His bone age as determined according to Greulich and Pyle method was 10 years and 6 months. Targeted and predicted height was 172.7±5 cm and 148.2 cm, respectively. Pubertal stage was Tanner stage 1. Laboratory findings, apart from a low level of insulin-like growth factor (IGF)-1 (11 ng/mL; <-3 SD), were almost normal. He had low growth velocity (1 cm/year). We then performed a GH stimulation test. The peak GH level was 6.6 ng/mL with L-Dopa and 5.6 ng/mL with clonidine loading.
Due to the history of a traffic accident and intracranial AC, the brain MRI was repeated and a extensive right middle fossa AC (MFAC) was detected with no compressive imaging findings (). We decided to treat the patient with recombinant human GH replacement therapy (0.025 mg/kg/d). His height increased by 9.2 cm in the last year, IGF-1 level was raised up to 274 ng/mL. There was no complication related to treatment in follow-up period. The control MRI scan 1 year after start of treatment showed no change in the cyst size.


A 30-year-old Caucasian woman with para 2 was admitted to our department for right side flank pain, dysuria and suprapubic pain. She had no complaints of vaginal discharge, bleeding or painful menstruation. Her menstrual cycles were normal and lasting for three to four days. She did not have a family history or any surgical interventions. A physical examination revealed a right side costovertebral angle and suprapubic tenderness. Laboratory test results including a complete blood count, serum biochemical analysis, urine analysis and urine culture were normal. Urinary ultrasonography showed right side hydroureteronephrosis with renal cortical thinning. We suspected a right ureteral stone obstructing the ureter and a computed tomography (CT) scan was performed. The CT scan revealed similar right side hydroureteronephrosis with obstruction of the ureter. No signs of stone were observed on the CT scan.
After preclinical and radiologic evaluation of the patient, we decided to perform a right side diagnostic ureterorenoscopy (URS) and retrograde pyelography. Retrograde pyelography and diagnostic URS showed a focal stricture with a length of >3cm at the distal ureteral part and secondary hydroureteronephrosis. The stricture site could not be passed with URS and a double J stent was inserted and the operation was terminated. We planned to perform an excision of the affected ureteral segment and a ureteroneocystostomy with Boari flap six weeks later.
Open partial ureterectomy and ureteroneocystostomy with Boari flap were performed. First, we dissected and excised the affected ureteral segment, which was followed by mobilization of the spatulation of the remaining ureteral parts. Then, the bladder was mobilized anteriorly and a Boari flap was created. The flap was pulled to the spatulated ureter without tension. A new 26cm 4.8F double J stent was inserted and the ureter was anastomosed to the apex of the flap with absorbable 4/0 sutures. Control of the anastomosis was confirmed by filling the bladder with 300ml saline and no leakage was observed. A pelvic drain was placed at the end of the procedure.
No extravasation was observed from the anastomosis site on the 10th postoperative day and the urethral catheter was removed. We took out the pelvic drain the day after. Our patient was discharged on the 11th postoperative day and the double J stent was removed after six weeks. The pathologic specimen demonstrated intrinsic endometriosis of the right ureter with endometrial glandular cells and stromal tissue (Figure ). Now, our patient is in the second year of follow-up and has not experienced any signs of recurrence during the last year and control urinary ultrasonographies revealed no evidence of hydronephrosis.