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Hemimegalencephaly

Case contributed by Maxime St-Amant
Diagnosis almost certain

Presentation

Multiple unexplained neurological symptoms.

Patient Data

Age: 5 years
Gender: Male
mri

MRI shows an asymmetric left hemisphere, significantly larger than the right one, compatible with hemi-megalencephaly. Moreover, there is a subtle loss of GM-WM differentiation on the right side compared to the left. There is no visible hemi-hypertrophy of the face or calvarium. There is an abnormal subcortical white matter FLAIR signal on the left centrum semi-ovale and corona radiata.

Case Discussion

However, this patient was known for a Proteus syndrome with limbs hemi-hypetrophy. Hemimegalencephaly is associated with various neurological conditions, but it's still a very rare entity. It can easily be overlooked.

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