1. Menkes disease: MRI appearance of a rare neurodegenerative disorder
- Author
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Marc Doelken, Regina Doelken, Arnd Doerfler, and Janine Rennert
- Subjects
Cerebral atrophy ,Pathology ,medicine.medical_specialty ,medicine.diagnostic_test ,business.industry ,Magnetic resonance imaging ,Grey matter ,medicine.disease ,Leukoencephalopathy ,medicine.anatomical_structure ,Atrophy ,Pediatrics, Perinatology and Child Health ,Failure to thrive ,Hereditary Diseases ,Medicine ,Menkes disease ,Neurology (clinical) ,medicine.symptom ,business - Abstract
Leukoencephalopathy and cerebral atrophy occur as prominent radiological features in early onset neurodegenerative disorders of inherited metabolic origin. Menkes disease is a rare X-linked recessive disorder, characterized by neurodevelopmental delay in early infancy, failure to thrive and seizures. While diagnosis of Menkes disease is usually based upon clinical, genetic and laboratory findings, typical radiolological features such as extensive lesions in the white and grey matter are present. Alterations found in more advanced stages are generalized atrophy and vascular changes. We present the case of a 10-month-old boy with Menkes disease, showing extensive abnormal signal of cerebral white matter, followed by generalized cerebral atrophy in magnetic resonance imaging.
- Published
- 2015
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