Macrocephaly with diffuse white matter changes simulating a leukodystrophy in Menkes disease

Area of Science:

• Genetics
• Neurology
• Metabolic Disorders

Background:

• Menkes disease is a rare inherited disorder of copper metabolism.
• It is caused by mutations in the ATP7A gene.
• Clinical features include neurological regression, seizures, hypotonia, and kinky hair.

Observation:

• This report details a case of Menkes disease with atypical neuroimaging findings.
• The patient presented with macrocephaly.
• Symmetrical, bilateral confluent white matter changes and temporal cystic areas were observed.

Findings:

• The observed imaging findings were reminiscent of megalencephalic leukodystrophy.
• This presentation deviates from typical Menkes disease neuroimaging, which usually shows brain atrophy and vascular changes.

Implications:

• These unusual findings expand the spectrum of neuroimaging presentations for Menkes disease.
• Recognizing these variations is crucial for accurate diagnosis and management.
• Further research may elucidate the genetic and molecular basis for these divergent imaging phenotypes.