slow generalized polyspike and wave activityToneAxial and peripheral hypotonia with dystonic like movement and generalized muscle wastingCentral and peripheral hypotonia with dystonic like movements and generalized muscle wastingMicrocephalyNoYesBrain findingMild diffuse brain parenchymal volume loss with diffuse paucity of the myelin within the brain parenchyma.Normal topographical and morphological appearance of the infratentorial and supratentorial structuresAudiology assessmentModerate to severe conductive hearing loss in the left ear and mild conductive hearing loss in right earN/ADysmorphismSubtle facial dysmorphia and small left earMicrocephaly with subtle facial dysmorphiaOtherSevere gastroesophageal reflux disease necessitating GT tube placement and fundoplication at age 4 years, no visual tracking or social smileVomiting and chocking on first day of life, mild congenital heart disease that resolved spontaneously, ectopic right kidney, bilateral optic disc pallor
