Unusual magnetic resonance imaging features in Menkes disease.
We present a case of an inherited disorder of copper metabolism, Menkes disease in which MRI studies revealed the coexistence of T2 hypersignal in the temporal white matter with an increase of apparent diffusion coefficient indicative of vasogenic oedema combined with T2 hypersignal of the putamen and head of the caudate and decreased apparent diffusion coefficient indicative of cytotoxic oedema. These unusual MRI features emphasize the interest of newly developed techniques in early diagnosis in Menkes disease. The acute cerebral damage might result from the combined effects of acute metabolic stress due to infectious disease and prolonged status epilepticus, acting on a highly susceptible developing brain. Vasogenic oedema in the temporal white matter could be related to prolonged status epilepticus and vascular abnormalities. Cytotoxic oedema of the putamen and head caudate could result from energetic failure.
Barnerias
Christine
C
Department of Paediatric Neurology and Metabolic Disease, Hopital Necker Enfants Malades, 149 rue de Sevres, AP-HP, 75743 Paris Cedex 15, France.
Boddaert
Nathalie
N
Guiraud
Pascale
P
Pascale
Guiraud
G
Desguerre
Isabelle
I
Isabelle
Desguerre
D
Hertz Pannier
Lucie
L
Dulac
Olivier
O
de Lonlay
Pascale
P
Bahi Buisson
Nadia
N
D001921:Brain / Q000473:pathology / Q000503:physiopathology; D001929:Brain Edema / Q000175:diagnosis* / Q000209:etiology; D038524:Diffusion Magnetic Resonance Imaging / Q000379:methods*; D006801:Humans; D007091:Image Processing, Computer-Assisted / Q000379:methods*; D007223:Infant; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology; D017072:Neostriatum / Q000473:pathology / Q000503:physiopathology; D013702:Temporal Lobe / Q000473:pathology / Q000503:physiopathology