A 30 months old deceased boy who was born at full term via NSVD following an uneventful pregnancy. Birth weight was 3.3 kg, and he was discharged on the second day. He was apparently healthy and developing normally until 9 months of age when he was noted to have bilateral strabismus. A month later, he became unable to follow and was found to be blind, and then he started to have swallowing problems with solids that progressed to liquids as well. A few months later, he developed frequent jerks which progressed to generalized tonic-clonic seizures, and he started to lose milestones. Extensive investigations were normal. He eventually had a global developmental delay. His clinical course was complicated with multiple hospitalizations and ICU admissions due to respiratory infections. The parents are second-degree cousins once-removed, and they had a child who died due respiratory complications at 8 months of age. On examination, his growth parameters at 30 months of age were weight 8.5 kg (25th percentile), height 83 cm (at the 50th percentile) and head circumference 43 cm (<3rd percentile). His physical examination was significant for microcephaly and severe hypotonia. Other examinations were within normal limits. EEG was remarkable for hypsarrhythmia and multifocal epileptic discharges. Brain MRI and MRS demonstrated diffuse extensive abnormal T2 hyperintensity of both cerebral and cerebellar hemispheres and the corpus callosum as well as the posterior limb of the both internal capsule and the paramedian tracts. It also showed atrophied thalami and restricted water diffusion with multifocal areas of necrotic appearance in the periventricular region and the centrum semiovale, bilaterally.