Menkes disease: MRI appearance of a rare neurodegenerative disorder

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.

Brain and the whole-body bone imaging appearances in Menkes disease: a case report and literature review

“…Normal cross-linking of collagen is thought to be essential for the mineralization of bone tissue [9]. Cerebral and cerebellar atrophy is another typical feature that likely contributes to the combined effects of metabolic impairment, prolonged status epilepticus, lactic acidosis, and mitochondrial failure [11][12][13]. White matter abnormalities vary among individuals, the lesions show vasogenic edema-like features.…”