Unusual magnetic resonance imaging features in Menkes disease.

Abstract

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.

• Authors: Christine Barnerias, Nathalie Boddaert, Pascale Guiraud, Guiraud Pascale, Isabelle Desguerre, Desguerre Isabelle, Lucie Hertz Pannier, Olivier Dulac, Pascale de Lonlay, Nadia Bahi Buisson
• Journal: Brain & development (Brain Dev) Vol. 30 Issue 7 Pg. 489-92 (Aug 2008) ISSN: 0387-7604 [Print] Netherlands
• PMID: 18243619 (Publication Type: Case Reports, Journal Article)

Topics

• Brain (pathology, physiopathology)
• Brain Edema (diagnosis, etiology)
• Diffusion Magnetic Resonance Imaging (methods)
• Humans
• Image Processing, Computer-Assisted (methods)
• Infant
• Magnetic Resonance Imaging (methods)
• Male
• Menkes Kinky Hair Syndrome (complications, diagnosis, physiopathology)
• Neostriatum (pathology, physiopathology)
• Temporal Lobe (pathology, physiopathology)