Benign Partial Seizures of Adolescence.

Benign partial seizures of adolescence (BPSA) presents as partial seizures with or without secondary generalization occurring isolated or in a cluster in the first 24 to 48 hours after onset in adolescents. Correct recognition of this entity can avoid use of antiepileptic drugs and associated risks. We conducted retrospective review of charts to identify seven cases of BPSA between 11-15 years at presentation who did not have generalized epilepsy, benign rolandic epilepsy, benign occipital epilepsy, an epileptogenic lesion on neuroimaging, or unprovoked recurrent tonic-clonic seizures. All of them had partial seizures, normal neuroimaging and electroencephalogram with no recurrence of seizures despite no treatment.

Andersen-Tawil Syndrome – Periodic Paralysis with Dysmorphism.

Andersen-Tawil syndrome is a rare type of channelopathy characterized by the presence of periodic paralysis, cardiac arrhythmia (prolonged QT interval or ventricular arrhythmia) and distinct dysmorphic abnormalities. It is a type of potassium channelopathy that occurs sporadically or by autosomal dominant inheritance. We report a 14 year old boy with Andersen-Tawil syndrome.

Cerebrotendinous xanthomatosis.

We describe two adolescent Indian siblings with cerebrotendinous xanthomatosis with cognitive impairment, progressive neurological deterioration, juvenile cataracts and chronic diarrhea. Both patients had bilateral Achilles tendon xanthomata. Rapid progression of disease was an unusual finding in these cases. Magnetic resonance imaging showed characteristic signal alterations in cerebellar hemispheres, brainstem and posterior cerebral white matter.

Profile of inborn errors of metabolism in a tertiary care centre PICU.

Objective. To study the clinico-investigative profile and outcome of patients with inborn errors of metabolism (IEM) presenting to the pediatric intensive care unit (PICU). Methods. Records of all patients admitted in tertiary care centre PICU between August 2007 and September 2008 with a diagnosis of IEM were retrieved the details of clinical presentation, laboratory results, treatment and outcome were noted and analysed. Results. Eleven (2.6%) out of 420 PICU admissions during the study period had a diagnosis of IEM with a high mortality rate of 36%. Clinical presentation was quite varied. Conclusion. IEM are not uncommon in PICU. Simple biochemical tests and neuroimaging findings provide vital clues to the diagnosis of IEM.

Early myoclonic encephalopathy.

Early myoclonic encephalopathy (EME) is a rare malignant epileptic syndrome. The erratic myoclonus with or without focal motor seizures, onset before 3 months of age, and persistent suppression-burst pattern in electroencephalograph (EEG) are accepted as the diagnostic criteria for EME. We report an 11 month-old infant with EME which was secondary to non-ketotic hyperglycinemia.