Thick corpus callosum: An underrecognised but important diagnostic clue

Area of Science:

• Neuro-oncology
• Genetics
• Pediatric Neurology

Background:

• Neurofibromatoses are inherited tumor suppressor disorders characterized by neoplastic and non-neoplastic growths.
• Neurofibromatosis type 1 (NF1) is a common genetic disorder associated with multiple neurofibromas and significant complications.

Observation:

• A seven-year-old boy presented with his first seizure and multiple café-au-lait macules.
• Clinical presentation suggested potential NF1 diagnosis.

Findings:

• Neuroimaging revealed abnormalities in the corpus callosum.
• No focal areas of signal intensity were detected on neuroimaging.
• The findings indicate potential central nervous system involvement in NF1.

Implications:

• This case underscores the importance of considering NF1 in pediatric patients with seizures and café-au-lait spots.
• Corpus callosal changes may be an under-recognized neuroimaging finding in NF1.
• Further research is needed to understand the spectrum of CNS manifestations in NF1.