A case of extreme brain lesions: Which pathogenetic mechanism?

A 4-year-old girl with microcephaly at birth, dysmorphic features, drug-resistant epilepsy and psychomotor retardation had MRI evidence of normal cerebellum but nearly complete cerebral cortex destruction, completely absent white matter, shrunken basal ganglia and thalami, and extensive bilateral subdural fluid collection. Metabolic diseases, such as glutaric aciduria type 1 and Menkes' disease, congenital malformations of the brain, prenatal infection, congenital vascular diseases and child abuse syndrome were ruled out. The neuroimaging features were striking and the degree of brain destruction impressive. We hypothesised a repeated in utero ischaemic event, probably a selective insult to the carotid vessels that spared the vertebral arteries.