Nevoid basal cell carcinoma syndrome and epilepsy

Area of Science:

• Neurology
• Genetics
• Dermatology

Background:

• Nevoid basal cell carcinoma syndrome (NBCC), also known as Gorlin syndrome, is a rare genetic disorder.
• It is characterized by a predisposition to various cancers, particularly basal cell carcinomas, and developmental abnormalities.

Observation:

• This study describes four patients with NBCC syndrome experiencing recurrent seizures.
• Three patients presented with characteristic features: multiple basal cell carcinomas, nevi, dentigerous cysts, and skeletal anomalies.
• Seizures began in childhood, predominantly generalized tonic-clonic, with one patient experiencing complex partial seizures as well.

Findings:

• Neurological examination revealed focal deficits in only one patient.
• Neuroimaging (Pneumoencephalography, CT scan) did not reveal significant abnormalities in the tested patients.
• Electroencephalography (EEG) showed varied findings, including focal spikes and generalized slowing.
• Psychometric testing indicated a range of cognitive impairments, with full-scale scores from 39 to 84.

Implications:

• The findings suggest that seizures should be recognized as a significant neurological manifestation of NBCC syndrome.
• This expands the spectrum of neurological symptoms associated with NBCC, beyond previously recognized conditions like medulloblastoma and hydrocephalus.
• Early recognition and management of seizures in NBCC patients are crucial for improving patient outcomes.