Diagnostic Dilemma


Author: Pediatric Oncall
A 5 years boy born of non-consanguineous marriage presented with ataxia, frequent falls during walking and weakness of lower limbs for 1 year. Mother also noticed intermittent tremulousness of lower limbs for 15 days. There was no history of fever, seizures, cranial nerve or focal neurological deficits. There was no headache, vomiting or similar history in the family. Birth history and motor milestones are normal. The speech was slurred and not recognizable. On examination, the child had hypertonia in lower limbs with normal power and brisk reflexes in the lower limbs. He had cerebellar signs in form of dysdiadokinesis, past pointing, and ataxic gait. There were no cranial nerves or focal neurological deficit. Investigations showed normal hearing and fundus examination. CT brain was suggestive of cerebellar atrophy. EMG/NCV was normal.

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