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Velocardiofacial syndrome presenting as chronic mania

VELOCARDIOFACIAL (OR SHPRINTZEN) syndrome (VCFS) is a genetic syndrome with a range of psychiatric symptoms caused by a microdeletion of the 22q11.2 band. The major physical symptoms of VCFS include palatal abnormalities, cardiac malformations, and characteristic facial features. A 21-year-old unmarried man presented with irritability, increased psychomotor activity, grandiosity, demanding behavior, increased sleep, appetite and libido along with impaired socio-occupational functioning for the last 5 years with a fluctuating course. He had low birthweight, delayed motor and speech milestones, along with feeding difficulties and hypernasal speech, which improved spontaneously. During childhood he had recurrent upper respiratory tract infection, transient hyperactivity, poor academic performance and difficult temperament. He underwent surgery for ventricular septal defect at 6 years of age. Physically he had a long face, small slanted eyes, a high arched palate, a small mouth, bilaterally dysmorphic ears, and an increased gap between his first and second toe. On mental status he showed distractibility, overabundant speech, hyperactivity, irritability with accelerated thought stream and delusions of grandiosity. His IQ was 85 on the Stanford–Binet test. A 32-channel quantitative electroencephalogram showed occasional paroxysmal transient and rhythmic bifronto-centro-parietal and generalized slowing in theta range (5.5–6 Hz) and bifrontal spike–slow wave complexes. Non-contrast computed tomography of the brain showed mild frontal atrophy. Electrocardiogram showed bifascicular block and echocardiography revealed ejection fraction 63%. The Postgraduate Institute Battery for Brain Dysfunction revealed a dysfunction score of 21, and Luria–Nebraska Neuropsychological Battery scales were elevated above the critical level of 62, suggestive of cognitive dysfunction. The patient was given sodium valproate 2 gm/day along with olanzapine 20 mg/day but developed thrombocytopenia on valproate and subsequently a rash and swelling of the face with carbamazepine. Therefore, clozapine was given up to 300 mg/day with which he showed improvement but developed thrombocytopenia and hence discontinued. Lamotrigine was prescribed up to 200 mg/day on which the current episode developed. Karyotyping was normal but fluorescence in situ hybridization of peripheral blood using a 3-Megabase probe indicated interstitial deletion of the chromosome 22q11.2 region, which is associated with velocardiofacial syndrome. He was restarted on clozapine up to 300 mg/day along with levetiracetam 1000 mg/day, with which manic symptoms improved. No further adverse effects were noted thereafter during follow up at 6 months. Written informed consent was provided by the patient. Psychiatric disorders are common in VCFS; schizophrenia, attention deficit hyperactivity disorder, seizures, intellectual impairment and learning disabilities have been particularly identified. Interestingly, a high prevalence of bipolar spectrum disorders has also been reported in patients with VCFS. For both schizophrenia and bipolar disorder, the 22q11.2 region shows significant linkage findings, highlighting the possible causative overlap between them. Our case presented with borderline intelligence and behavioral problems in childhood, developed predominantly manic symptoms that persisted for 5 years with poor response to various treatments, and developed severe adverse effects to various psychotropics.