A 10 months old deceased boy who was born at full term via NSVD with a birth weight of 2.5 kg. He was admitted for one week in NICU because of transient respiratory distress and questionable sepsis. He started to have focal seizures at 6 months of age. He was admitted to PICU due to a persistent seizure that needed multiple antiepileptic medications, and he stayed there for three months because of failure to extubate and poorly controlled epilepsy. Developmentally, he had a global developmental delay. His parents are first-degree cousins with another son who has a similar condition. His physical examination revealed a microcephalic child with axial hypotonia and generalized spasticity. Other examinations were within normal limits. His growth parameters at 10 months of age were weight 8 kg (on the 3rd percentile), height 61 cm(<1st percentile) and head circumference 41 cm (<1st percentile). Brain MRI showed generalized brain atrophy, bilateral diffusion restriction in the posterior limbs of the internal capsule, and symmetric foci of diffusion restriction in the midbrain and the dorsal brainstem along the sensory white matter tracts. MRS showed raised choline levels in the white matter. EEG showed generalized encephalopathic state and evidence of partial seizure.