Hemimegalencephaly with Facial Congenital Infiltrating Lipomatosis in a Child

Area of Science:

• Neurology
• Radiology
• Pediatric Medicine

Background:

• Hemimegalencephaly (HMG) is a rare congenital brain malformation involving hemisphere enlargement.
• It can present with neuronal migration defects like polymicrogyria, pachygyria, and heterotopia.
• Associated anomalies in other brain structures and ipsilateral facial lipomatosis are infrequently reported.

Purpose of the Study:

• To investigate the morphological abnormalities in a case of hemimegalencephaly (HMG) with concurrent congenital infiltrating lipomatosis of the face.
• To evaluate the utility of Magnetic Resonance Imaging (MRI) in characterizing these combined conditions.
• To document associated extra-hemispheric findings.

Main Methods:

• Case report of a five-month-old boy with HMG and facial lipomatosis.
• Detailed neuroimaging using Magnetic Resonance Imaging (MRI).
• Review of potential complementary diagnostic modalities including electroencephalogram (EEG) and brain single photon emission computerized tomography (SPECT).

Main Results:

• MRI demonstrated hemimegalencephaly (HMG) with ipsilateral congenital infiltrating lipomatosis of the face.
• Additional MRI findings included abnormalities outside the affected hemicerebrum, such as ipsilateral brainstem, cerebellum, and left lateral ventricle enlargement.
• EEG and SPECT were noted as potentially useful for assessing functional brain anomalies.

Conclusions:

• The co-occurrence of hemimegalencephaly (HMG) and congenital infiltrating lipomatosis of the face is an unusual presentation.
• MRI is a crucial imaging modality for delineating the morphological spectrum of this combined condition.
• Further investigations with EEG and SPECT may provide insights into functional deficits associated with HMG.