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Pial Arteriovenous Fistula and Capillary Malformation-Arteriovenous Malformation Associated with RASA1 Mutation: 2
A Jessey Chugh1, Asim Shahid, Sunil Manjila
1Division of Pediatric Epilepsy, Department of Pediatric Neurology, Rainbow Babies and Children's Hospital, and Department of Neurology and Neurosurgery, The Neurological Institute, University Hospitals Cleveland Medical Center, Cleveland, OH, USA.
Insights
Two pediatric patients with RASA1 gene mutations developed pial arteriovenous fistulas (AVFs). Surgical intervention led to excellent outcomes, highlighting the importance of rapid shunt control in pediatric brain vascular malformations.
Area of Science:
- Pediatric Neurology
- Vascular Malformations
- Genetics
Background:
- Pial arteriovenous fistulas (AVFs) are rare cerebrovascular malformations in children.
- Genetic mutations, particularly in the RASA1 gene, are increasingly recognized as a cause of AVFs.
- Early diagnosis and intervention are crucial due to potential complications like heart failure.
Observation:
- Two pediatric cases of pial AVFs associated with RASA1 gene mutations are presented.
- Patient 1 exhibited macrocephaly and capillary malformations, presenting with neurological deficits.
- Patient 2 presented with proptosis but was neurologically intact.
Findings:
- Genetic analysis revealed inherited RASA1 mutations in both patients, linked to family history of cutaneous lesions.
- Surgical management provided definitive, single-stage control of the vascular shunt in both cases.
- Both patients demonstrated significant symptomatic improvement and remained neurologically stable post-surgery.
Implications:
- Surgical treatment of pediatric pial AVFs offers excellent clinical and radiological outcomes.
- Prompt shunt control is vital to prevent severe complications such as congestive heart failure.
- This study underscores the role of RASA1 gene mutations in the pathogenesis of pediatric AVFs and the efficacy of surgical management.
Abstract:
We present case reports of 2 pediatric patients who were both found to have pial arteriovenous fistulas (AVFs) with subsequent genetic analysis revealing mutations in the RASA1 gene. Considering their family history of distinct cutaneous lesions, these mutations were likely inherited as opposed to de novo mutations. Patient 1 had large capillary malformations on the left side of the face and neck, associated with macrocephaly, and presented at the age of 32 months with speech delay, right-sided weakness, and focal seizures involving the right side of the body. Patient 2 presented with proptosis at the age of 9 months, but was otherwise neurologically intact. Given the chance for definitive single-stage control of vascular shunt (obviating chances for radiation exposure with endovascular treatment) and surgically accessible location of these intracranial lesions, both patients were treated with surgery with excellent clinical and radiological outcome. In general, given the high mortality secondary to severe congestive heart failure when treated conservatively, the goal of treatment in cortical AVF in young children, even when asymptomatic, is rapid control of the shunt. This was achieved successfully in our cases - both patients experienced significant symptomatic improvement following surgery and remained neurologically stable in the subsequent follow-up visits.
