Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1
Martino Ruggieri1, Mario Mastrangelo, Alberto Spalice
1Department of Formative Processes, University of Catania, Italy. m.ruggieri@unict.it
Abstract:
Anecdotal cases of polymicrogyria (PMG; a malformation of cortical development consisting of an excessive number of small gyri with abnormal lamination) in patients with neurofibromatosis type 1 (NF1) have been described; however, the cases were unilateral and had negative NF1 genetic testing. We describe an 11-year-old girl with NF1 manifesting as a complex epileptic syndrome, including partial seizures secondarily generalized and status epilepticus, who had in association, bilateral, asymmetrical (opercular and paracentral lobular) PMG. She had a 1-bp deletion (c.1862delC) in exon 12b of the NF1 gene. It is notable that, given the key role played by the NF1 gene product, neurofibromin, in normal brain development, and the relatively high frequency of other brain findings in NF1, there are not more NF1 cases with brain malformations manifesting as PMG.
Insights
This study presents a rare case of bilateral polymicrogyria in a child with neurofibromatosis type 1 (NF1). The findings highlight a potential, though infrequent, association between NF1 and complex brain malformations.
Area of Science:
- Neuroscience
- Genetics
- Developmental Biology
Background:
- Neurofibromatosis type 1 (NF1) is a genetic disorder with variable neurological manifestations.
- Polymicrogyria (PMG) is a cortical malformation characterized by excessive small gyri and abnormal lamination.
- Previous reports of PMG in NF1 patients were unilateral and lacked genetic confirmation.
Observation:
- An 11-year-old girl with genetically confirmed NF1 (c.1862delC mutation) presented with a complex epileptic syndrome.
- Associated with her NF1 was bilateral, asymmetrical polymicrogyria affecting opercular and paracentral lobular regions.
- This presentation is unusual given the rarity of reported PMG in NF1.
Findings:
- The case demonstrates a rare association of bilateral PMG with NF1.
- The NF1 gene product, neurofibromin, plays a crucial role in brain development.
- Despite neurofibromin's role, significant brain malformations like PMG are not frequently observed in NF1.
Implications:
- This case expands the spectrum of brain malformations associated with NF1.
- It suggests that while rare, bilateral PMG should be considered in the differential diagnosis of epilepsy in NF1 patients.
- Further research may elucidate the specific mechanisms linking NF1 mutations to PMG development.
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