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

Puneet Jain¹, Suvasini Sharma, Naveen Sankhyan

¹Division of Pediatric Neurology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India.

Indian Journal of Pediatrics

|June 16, 2012

Summary

This summary is machine-generated.

Menkes disease, a copper metabolism disorder, presents with neurological decline and distinctive hair. This case highlights unusual brain imaging findings, mimicking other leukodystrophies.

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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.