Published in:
01-06-2010 | Images in Metabolic Medicine
Basal ganglia lesions in the early stage of Menkes disease
Published in: Journal of Inherited Metabolic Disease | Issue 3/2010
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An 11-month-old boy presented with progressive truncal hypotonia with poor head control and myoclonic seizures. His hair was sparse and stiff, his skin hypopigmented. Magnetic resonance imaging (MRI) (Fig. 1) demonstrated slight volume loss of the supratentorial white matter, symmetrical T2-weighted (T2W) hyperintense signal of the putamens and isolated round lesions of the left caudate head. The basal ganglia lesions showed restricted diffusion on diffusion-weighted imaging (DWI) (Fig. 2). Light microscopy of the boy’s hair demonstrated pili torti. Low levels of plasma copper and caeruloplasmin confirmed the diagnosis of Menkes disease.
Fig. 1
Axial T2W images. Putaminal and left caudate head lesions
Fig. 2
DWI trace image. Restricted diffusion of basal ganglia lesions
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