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A spectrum of intracranial vascular high-flow arteriovenous shunts in RASA1 mutations.
- Source :
-
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery [Childs Nerv Syst] 2016 Apr; Vol. 32 (4), pp. 709-15. Date of Electronic Publication: 2015 Oct 24. - Publication Year :
- 2016
-
Abstract
- Purpose and Background: We describe three paediatric cases with different intracranial fast-flow shunts presenting early in life, all with capillary malformation-arteriovenous malformation syndrome and RASA1 verified mutations. Intracranial arteriovenous fast-flow shunts are rare vascular malformations typically presenting early in life and have been associated with cutaneous capillary malformations, characterized as capillary malformation-arteriovenous malformation syndrome. Heterozygous RASA1 gene mutations have been found to be disease causing with high penetrance for the typical cutaneous findings, but only some individuals with the syndrome have intracranial lesions.<br />Cases: One infant presented with a vein of Galen malformation responsible for hydrodynamic disorders, one neonate suffered from severe cardiac insufficiency related to a superior sagittal sinus dural malformation with high-flow fistulas, and one baby was treated at infant age of a choroidal arteriovenous fistula discovered antenatally.<br />Results and Conclusions: We report the follow-up of these three cases with RASA1 gene mutation and comment on the possible role of evaluation for vascular lesions and capillary malformation-arteriovenous malformation syndrome in patients and their families, with intracranial fast-flow shunts.
- Subjects :
- Angiography, Digital Subtraction
Capillaries diagnostic imaging
Carotid Artery, Internal diagnostic imaging
Child, Preschool
Female
Follow-Up Studies
Humans
Imaging, Three-Dimensional
Infant
Magnetic Resonance Imaging
Male
Arteriovenous Malformations diagnostic imaging
Arteriovenous Malformations genetics
Arteriovenous Shunt, Surgical methods
Capillaries abnormalities
Mutation genetics
Port-Wine Stain diagnostic imaging
Port-Wine Stain genetics
p120 GTPase Activating Protein genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1433-0350
- Volume :
- 32
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
- Publication Type :
- Academic Journal
- Accession number :
- 26499346
- Full Text :
- https://doi.org/10.1007/s00381-015-2940-y