A spectrum of intracranial vascular high-flow arteriovenous shunts in RASA1 mutations.
OBJECTIVE
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.


METHODS
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.


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.
Department of Neuropediatrics, Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm, 171 76, Sweden. pernilla.grillner@ki.se.
Pernilla
P
Grillner
Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.|Department of Neuroradiology, Karolinska University Hospital, Stockholm, Sweden.
Micheal
M
Söderman
Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.|Department of Neuroradiology, Karolinska University Hospital, Stockholm, Sweden.
Staffan
S
Holmin
Service de Neuroradiologie Diagnostique et Thérapeutique, Hôpital Foch, Suresnes, France.
Georges
G
Rodesch
D015901:Angiography, Digital Subtraction; D001165:Arteriovenous Malformations / Q000000981:diagnostic imaging* / Q000235:genetics*; D001166:Arteriovenous Shunt, Surgical / Q000379:methods*; D002196:Capillaries / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002343:Carotid Artery, Internal / Q000000981:diagnostic imaging; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D021621:Imaging, Three-Dimensional; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics*; D019339:Port-Wine Stain / Q000000981:diagnostic imaging* / Q000235:genetics*; D020729:p120 GTPase Activating Protein / Q000235:genetics*
C557248:RASA1 protein, human; D020729:p120 GTPase Activating Protein
Capillary malformation–arteriovenous malformation syndrome; Dural fistula; Dural sinus malformation; Embolization; RASA1; Vein of Galen malformation