Microgyria associated with Sturge-Weber angiomatosis
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A Simonati1, V Colamaria, A Bricolo
1Istituto di Neurologia, Ospedale Policlinico Borgo Roma, Università degli Studi di Verona, Italy.
Abstract:
A case is reported of an infant affected with Sturge-Weber disease who underwent left hemispherectomy due to untreatable seizures when 97 days old. Pathological analysis of the surgical specimens revealed the presence of four-layered microgyric cortex below the angiomatosis, intense gliosis, and the presence of calcifications of both the abnormal cortex and the underlying white matter. These findings suggest that the early infantile form of Sturge-Weber disease is associated with a developmental disorder of the cortical organization. Such abnormalities are consistent with the presence of an epileptogenic condition that is unresponsive to pharmacological treatment.
Insights
Sturge-Weber disease in infants can involve developmental cortical abnormalities causing severe, untreatable seizures. Surgical removal of affected brain tissue may be necessary for early intervention.
Area of Science:
- Neurology
- Developmental Neuroscience
- Pediatric Neurosurgery
Background:
- Sturge-Weber disease is a rare congenital disorder characterized by a facial birthmark and abnormalities in the brain and blood vessels.
- Infantile cases often present with intractable seizures, posing significant challenges for management and treatment.
- Hemispherectomy is a radical surgical procedure involving the removal or disconnection of one cerebral hemisphere, typically reserved for severe, medically refractory epilepsy.
Observation:
- A case report details an infant diagnosed with Sturge-Weber disease who underwent a left hemispherectomy at 97 days old due to intractable seizures.
- Post-surgical pathological examination of the resected brain tissue was performed.
Findings:
- Pathological analysis revealed a four-layered microgyric cortex beneath the angiomatosis, indicative of abnormal cortical development.
- Intense gliosis and calcifications were observed in both the abnormal cortex and the underlying white matter.
- These neuropathological findings suggest a primary developmental disorder of cortical organization associated with the early infantile form of Sturge-Weber disease.
Implications:
- The observed cortical abnormalities provide a potential explanation for the severe, pharmacologically unresponsive epileptogenic condition seen in early infantile Sturge-Weber disease.
- This case highlights the complex interplay between vascular malformations and cortical development in Sturge-Weber disease.
- Understanding these developmental aspects is crucial for guiding therapeutic strategies and managing neurological deficits in affected infants.