EAST (Epilepsy, Ataxia, Sensorineural Hearing Loss, and Renal Tubulopathy) Syndrome: A Rare Association Between Brain, Ear, and Kidney.

EAST syndrome - Epilepsy, Ataxia, Sensorineural hearing loss, and renal Tubulopathy - is an autosomal recessive disorder affecting the potassium channel in the brain, inner ear, and basolateral membrane of the distal nephron of the kidney. The mutation in the KCNJ10 gene is responsible for defective potassium transport in those locations, resulting in seizures, hearing loss, and hypokalemia. Imaging findings of this disease are typical, such as cerebellar hypoplasia and signal changes in bilateral dentate nuclei, midbrain, pons, and medulla, with variable restricted diffusion due to intramyelinic edema. Variable degrees of atrophy can be seen in the brainstem, spinal cord, corpus callosum, and cortex. No definitive treatment has been described yet in literature, and management is focussed mainly on symptomatic treatment like antiepileptics for seizures and potassium supplementations for hypokalemia. Although limited case reports are described in the literature, most reports described this as a non-progressive disorder. Herein, we describe a case of EAST syndrome in a three-year-old male child with a history of seizures, global developmental delay, bilateral sensorineural hearing loss, salt-wasting renal tubulopathy, and imaging of the brain showed diffuse cerebral atrophy with signal changes in the brainstem and bilateral dentate nuclei, showed clinical improvement on symptomatic management.