Undiagnosed complex neurological malformation in a geriatric patient presenting with seizures

Area of Science:

• Neurology
• Neuroimaging
• Developmental Neuroscience

Background:

• Congenital cerebral malformations, including atretic cephaloceles, grey matter heterotopia, and septo-optic dysplasia, are typically diagnosed in childhood.
• These malformations often present with neurodevelopmental delays or endocrine issues.

Observation:

• A rare case of concurrent atretic parietal cephalocele, grey matter heterotopia, and septo-optic dysplasia diagnosed in a 60-year-old male patient.
• The patient presented with focal onset seizures, without prior neurodevelopmental delay or significant endocrine disturbances.

Findings:

• Concurrent congenital cerebral malformations can remain undiagnosed until adulthood.
• Adult-onset seizures may be the initial presentation of previously unrecognized congenital brain abnormalities.

Implications:

• Magnetic Resonance Imaging (MRI) plays a crucial role in detecting unsuspected congenital cerebral malformations in adult seizure patients.
• Thorough neurological and ophthalmological examinations are essential for adults with seizures, especially when congenital malformations are suspected.