A previously healthy and developmentally normal seven- year-old boy presented with history of behavioural disturbances, decreased attention span and headache which started 18 months ago and was followed by myoclonic seizures, progressively worsening behavioural pattern with associated speech, cognitive and locomotor impairment. The patient also developed bowel and bladder incontinence suggestive of autonomic disturbance. There was no previous history of exanthematous fever, jaundice or vision abnormality. Immunisation history was normal, including vaccination against measles at age nine and measles, mumps and rubella (MMR) at 15 months, with no family background of neurological disorders. Physical examination revealed altered sensorium with Glasgow Coma Scale of 10/15, persistent myoclonic jerks, increased muscular tone, diffuse rigidity and mutism. Meningeal signs were absent and cranial nerves were normal. Other systemic examination including psychiatric evaluation and examination of fundus oculi was normal. Slit-lamp examination excluded the presence of Kayser-Fleischer ring. Our working differential diagnosis was directed to exclude multiple sclerosis, acute demyelinating encephalomyelitis, Hashimoto’s encephalopathy, paraneoplastic limbic encephalitis, lafora disease, mitochondrial diseases and other rare neurodegenerative disorders including SSPE. A complete blood count, erythrocyte sedimentation rate, biochemical parameters including blood sugar, urea, creatinine, electrolytes, lipid profile, liver function tests, copper, ceruloplasmin, antinuclear factor, lactic acid, parathyroid and thyroid hormones were all within normal limits; 24-hr urine copper excretion was also in normal range. Abdominal ultrasonography was normal. Cerebro- spinal fluid (CSF) cytology, biochemistry and microbial analysis were normal but globulin levels were greater than 20% of total CSF protein with raised titres of measles antibodies in blood and CSF. Scalp electroencephalography (EEG) () showed frequent bursts of generalised spikes, polyspikes and sharp wave discharges. Magnetic resonance imaging (MRI) brain () revealed ill- defined irregular areas of altered signal intensity involving white matter of bilateral periventricular, centrum-semiovale and fronto-parietal regions. The patient was treated with valproic acid and isoprinosine along with supportive therapy in the form of passive exercises of all four limbs and care of bowel and bladder for two months in the hospital. In spite of all measures only partial control of seizure activity was achieved and there was no improvement in his behavioural, locomotor and cognitive status. He succumbed to his illness during an episode of generalised seizure resulting in cardio- respiratory arrest.
EEG showing waves and polyspikes
MRI brain showing periventricular altered signal intensity of white matter