Brain MRI Manifestation in Two Patients with East Syndrome

EAST Syndrome is a rare channelopathy caused by KCNJ10 mutations. It has four cardinal signs, including epilepsy, ataxia, sensorineural deafness, and tubulopathy. Dentate nucleus abnormalities and/or mild cerebellar atrophy have been reported as important neuroimaging findings in these patients. Additionally, restricted diffusion of globus pallidus, thalami, brainstem, dentate nuclei, and cervical spinal cord have been observed in some case reports [1]. Method This study analyzes two unrelated Iranian children with epilepsy, ataxia, renal salt-losing tubulopathy, and normotensive hypokalemia metabolic alkalosis with age growth. Whole-genome linkage analysis confirmed EAST syndrome. The first patient’s genotyping showed homozygote KCNJ10 (NM_002241.5 c.595C>T p.Arg199*), and the second patient showed homozygote KCNJ10 gene (NM_002241. c.556delG:p.V186Lfs*11). Both patients underwent 1.5 Tesla Brain MRI due to seizures and neurological symptoms. Results: Brain MRI examinations at 5 years old in Patient 1 and at 10 years old in Patient 2 revealed distinctive brain involvement characterized by true restricted diffusion of thalami, brain stem (especially midbrain and pons), dentate nuclei, tegmental tracts, and pulvinar. More severe symptoms correlated with more extensive and intense imaging findings