Young Adult with Polymicrogyria and New-Onset Seizures

Case at a Glance

A 21-year-old female with congenital polymicrogyria, unilateral blindness, and recent onset of seizures presenting challenges with epilepsy management and quality of life concerns.

Patient's Story

The patient was born with unilateral blindness and lived a relatively normal life until age 14, when neuroimaging performed to evaluate potential vision restoration revealed polymicrogyria with associated microcephaly. She functioned well academically and socially despite her neurological condition. In her early twenties, she began experiencing seizures, with suspected cannabis use as a potential trigger. The seizures have significantly impacted her independence, resulting in driving license suspension pending one year of seizure-free status. She has struggled academically, failing her second year of university, and faces employment challenges due to transportation limitations.

Initial Assessment

Patient presents with congenital polymicrogyria diagnosed at age 14 via neuroimaging. Physical examination reveals unilateral blindness, but otherwise normal neurological function with intact motor and cognitive abilities. Recent development of epileptic seizures has emerged as the primary clinical concern. Patient demonstrates good functional capacity despite underlying brain malformation.

The Diagnostic Journey

Initial presentation was unilateral blindness from birth. At age 14, MRI brain imaging performed for vision assessment unexpectedly revealed polymicrogyria with microcephaly. The patient remained asymptomatic for seizures until early adulthood when epileptic episodes began occurring. Seizure triggers appear to include cannabis use, though comprehensive seizure workup and EEG monitoring would be needed for complete characterization.

Final Diagnosis

Primary diagnosis: Polymicrogyria with associated epilepsy. Secondary diagnosis: Congenital unilateral blindness, likely related to cortical visual pathway involvement from the brain malformation.

Treatment Plan

Daily antiepileptic medication regimen (specific agents not detailed in case). Patient education regarding seizure management, trigger avoidance, and medication compliance. Driving restrictions per regulatory guidelines until achieving one year seizure-free status. Consideration for neuropsychological evaluation to assess academic support needs. Family education regarding seizure first aid and emergency management protocols.

Outcome and Follow-up

Patient continues on antiepileptic therapy with ongoing seizures impacting quality of life and independence. Academic performance has declined, requiring consideration of educational accommodations. Long-term prognosis appears favorable given mild phenotype of polymicrogyria, with seizure control being the primary determinant of functional outcomes. Regular neurology follow-up recommended for medication optimization and seizure monitoring.