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Published on: August 16, 2024
Surgically intractable epilepsy associated with focal cortical dysplasia and congenital cutaneous hemangiomas
Anna Brzezinski1, Vincent B Cruz2, Richard A Prayson3
1Department of Anatomic Pathology, L25, Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USA.
Insights
This case study details a 6-month-old infant experiencing severe seizures, multiple hemangiomas, and developmental delays. Surgical interventions revealed focal cortical dysplasia, a condition linked to cutaneous hemangiomas.
Area of Science:
- Neuroscience
- Developmental Biology
- Pathology
Background:
- Focal cortical dysplasia (FCD) is a significant cause of intractable epilepsy in children.
- Congenital hemangiomas are benign vascular tumors that can present at birth.
- The co-occurrence of FCD and multiple congenital hemangiomas is rare, posing diagnostic and therapeutic challenges.
Observation:
- A 6-month-old female infant presented with medically intractable seizures.
- The infant also exhibited multiple congenital hemangiomas and global developmental delay.
- Diagnostic workup included neuroimaging and subsequent surgical interventions.
Findings:
- Two surgical resections were performed.
- Pathological examination of resected tissue confirmed focal cortical dysplasia in both instances.
- The findings suggest a potential association between focal cortical dysplasia and cutaneous hemangiomas.
Implications:
- This case highlights a rare presentation of focal cortical dysplasia.
- Understanding the link between FCD and hemangiomas may improve diagnostic accuracy and treatment strategies for affected children.
- Further research is warranted to elucidate the underlying pathophysiology of this association.
Abstract:
We describe a 6-month-old girl with medically intractable seizures, multiple congenital hemangiomas, and developmental delay. The patient underwent two surgical resections. Pathological findings at both the first and second resections were consistent with focal cortical dysplasia. The literature was reviewed on focal cortical dysplasia associated with cutaneous hemangiomas.
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