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White matter attenuation and megalencephaly.

Archives of Disease in Childhood

|November 1, 1985

Summary

Familial megalencephaly in an infant presented with white matter attenuation but normal development. Subsequent scans confirmed megalencephaly, yet neurological status remained typical, suggesting a unique presentation of this condition.

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Area of Science:

Neurology
Radiology
Genetics

Background:

Familial megalencephaly is a rare genetic condition characterized by an enlarged brain.
Understanding its varied presentations is crucial for accurate diagnosis and management.

Observation:

A 6-month-old girl with familial megalencephaly exhibited widespread white matter attenuation on computed tomography (CT).
Despite the imaging findings, the child remained developmentally and neurologically normal.

Findings:

Follow-up CT at age 3 years revealed persistent megalencephaly but no other abnormalities.
The initial white matter changes resolved or were not apparent in later imaging, contrasting with the persistent megalencephaly.

Implications:

This case highlights the potential for discordant radiological findings and normal neurological development in familial megalencephaly.
Further research into the specific genetic and molecular underpinnings may explain these unusual imaging-clinical correlations.
This case contributes to the understanding of the spectrum of familial megalencephaly and its neurodevelopmental outcomes.

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