Affiliations: Department of Radiology, University of Regensburg,
School of Medicine, Regensburg, Germany | Department of Pediatrics, University of Erlangen
Medical School, Erlangen, Germany | Department of Neuroradiology, University of Erlangen
Medical School, Erlangen, Germany
Note: [] Correspondence: Janine Rennert, MD, Regensburg University,
School of Medicine, Department of Radiology, Franz-Josef-Strauss-Allee 11,
D-93053 Regensburg, Germany. Tel.: +49 941 944 7401; Fax: +49 941 944 7402;
E-mail: [email protected]
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.
