Cerebral Venous Sinus Thrombosis in a Child with Lesch-Nyhan Syndrome.

Lesch-Nyhan syndrome is a rare neurometabolic condition characterized by progressive choreoathetosis, intellectual disability, and peculiar manifestations like self-mutilation. Occasional case reports in adults have suggested an association between Lesch-Nyhan syndrome and hypercoagulability; however, no such report of either a venous or arterial stroke in children with Lesch-Nyhan Syndrome exists in literature. We present a 3-year-old boy with global developmental delay, dystonic posturing, choreoathetoid movements, and self-mutilation involving fingers and lips. He had acute worsening of sensorium, recurrent seizures, and opisthotonous posturing. A diagnosis of Lesch-Nyhan Syndrome was confirmed by extremely low hypoxanthine-guanine phosphoribosyltransferase enzyme levels. In view of an acute neurological deterioration, magnetic resonance imaging brain and magnetic resonance venogram were done that showed sagittal and left transverse venous sinus thrombosis. This case is the first case report of cerebral venous sinus thrombosis in a child with Lesch-Nyhan Syndrome. It further strengthens the association between hypercoagulability and Lesch-Nyhan syndrome.

Prevalence of smooth muscle dysfunction among children with Duchenne muscular dystrophy.

Smooth muscle dysfunction in Duchenne muscular dystrophy (DMD) has been rarely studied. A cross-sectional study was conducted to estimate the prevalence of smooth muscle dysfunction (vascular, upper gastrointestinal, and bladder smooth muscle) in children with DMD using questionnaires (Pediatric Bleeding Questionnaire, Pediatric Gastroesophageal Symptom Questionnaire, and Dysfunctional Voiding Symptom Score). Investigations included bleeding time estimation, nuclear scintigraphy for gastroesophageal reflux, and uroflowmetry for urodynamic abnormalities. Ninety-nine subjects were included in the study. The prevalence of vascular, upper gastrointestinal, and bladder smooth muscle dysfunction was 27.2%. Mean bleeding time was prolonged by 117.5 seconds. The prevalence of gastroesophageal reflux was 21%. Voided volume/estimated bladder capacity over 15% and abnormal flow curves on uroflowmetry were seen in 18.2% and 9.7% of the subjects, respectively. Our study highlights the need for addressing issues related to smooth muscle dysfunction in the routine clinical care of patients with DMD.

Development and validation of DSM-5 based diagnostic tool for children with Autism Spectrum Disorder.

Diagnostic and Statistical Manual of mental disorder-IV (DSM-IV) TR based INCLEN Diagnostic Tool for Autism Spectrum Disorder (INDT-ASD) is an established instrument for the diagnosis of ASD in Indian subcontinent and low-middle income countries (LMIC). The introduction of DSM-5 necessitated revision of existing INDT-ASD tool to incorporate the DSM-5 related changes. This study was undertaken to develop and validate the DSM-5 based All India Institute of Medical Sciences (AIIMS)-Modified-INDT-ASD Tool. The modifications were done using Delphi method and included: (a) rearrangement of questions from the previous tool; and (b) addition of new questions on sensory symptoms. The modified tool was validated against DSM-5 diagnostic criteria. In addition, receiver operating characteristic (ROC) curves were used to determine the cut-off for total score as compared to Childhood Autism Rating Scale (CARS) score to grade the severity of ASD. Two-hundred-twenty-five children (159 boys, median age = 47months) were enrolled. The modified tool demonstrated sensitivity of 98.4% and specificity of 91.7% to diagnose ASD. A score ≥14 on the tool was suggestive of severe ASD (CARS>36.5) with a sensitivity and specificity of 80% and 80.7% respectively [Area under the curve = 0.89]. AIIMS-Modified-INDT-ASD Tool is a simple and structured instrument based on DSM-5 criteria which can facilitate diagnosis of ASD with acceptable diagnostic accuracy.