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A 4-year-old girl, the product of a consanguineous marriage with unremarkable antenatal and perinatal periods, presented with global developmental delay, mainly motor with non-progressive spastic gait, considered as cerebral palsy and started rehabilitation. There was no regression, seizure or vision impairment. She had microcephaly, spastic paraplegia, exaggerated reflexes and strabismus. MRI and MR spectroscopy showed thin corpus callosum, subtle white matter changes with mild volume loss, mild dilatation of the posterior bodies of the lateral ventricles and prominent pathological lipid …
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