title: Menkes disease: case report of an uncommon presentation with white matter lesions.
abstract: Menkes disease is a rare X-linked disorder related to a defect in the copper metabolism. According to the current literature, the most frequent neuroimaging findings are cortical atrophy, chronic subdural effusion or hygroma, and vascular abnormalities. White matter lesions may be present before other features of the disease and may evolve into atrophy. We hereby report a case of Menkes disease with typical history and progression, and an early phase imaging study with important white matter abnormalities, which could have lead to diagnostic difficulties.
authors: Setor de Neurologia Infantil, Escola Paulista de Medicina, Universidade Federal de São Paulo.
authors: L M
authors: LM
authors: Santos
authors: Teixeira Cd
authors: L C
authors: LC
authors: Vilanova
authors: C
authors: C
authors: Micheletti
authors: C S
authors: CS
authors: Mendes
authors: M L
authors: ML
authors: Borri
authors: A M
authors: AM
authors: Martins
mesh_terms: D001921:Brain / Q000473:pathology*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000473:pathology*; D020768:Middle Cerebral Artery / Q000473:pathology