Early-Onset Ataxia with Oculo-Motor Apraxia and Hypoalbuminemia - A Rare Case Report from South Indian Region.

Neurodegenerative diseases commonly manifest as progressive deterioration of neurological function in varied forms. Damage to the cerebellum disrupts the coordination of limb and eye movements, impairs balance, and decreases muscle tone. A 11-year-old male child born to consanguineous parents, developmentally normal until five years of age, presented with a history of frequent falls while walking and speech difficulty from the age of five years. On examination, bilateral ocular motor apraxia was seen with an ataxic gait and slurred speech. All the other cerebellar signs were present. Magnetic resonance imaging of the brain revealed severe cerebellar vermian hypoplasia with global cerebellar cortex atrophy. Suspecting an inherited cause of ataxia, whole exome sequencing was done, which revealed a frameshift mutation in the aprataxin gene with the diagnosis of Early-onset ataxia with oculomotor apraxia and hypoalbuminemia (EAOH). While evaluating a case of ataxia, EAOH should be kept as a differential diagnosis, as though it is a rare entity, it can prove to be a chronic disabling disorder for children requiring life-long physical rehabilitation and occupational therapy.