Segmental neurofibromatosis type 1 (NF1) associated with Cobb syndrome: case report.
We present a 3-month-old girl who showed segmental NF1 and Cobb syndrome. She has a cutaneous vascular malformation located on the middle T (4)-T (6) region superimposed on a giant cutaneous café-au-lait spot. Magnetic resonance arteriography (MRA) revealed bilateral renal artery stenosis, extensive hypertrophy of the spinal epidural venous plexus, coarctation and tubular hypoplasia of the aortic arch and proximal portion of descending aorta. To the best of our knowledge the association of both neurocutaneous disorders has not being previously described.
Pascual-Castroviejo
I
I
Private Surgery - Pediatric Neurology, Madrid, Spain. i.pcastroviejo@neurologia.e.telefonica.net
Pascual-Pascual
S-I
SI
Viaño
J
J
D001017:Aortic Coarctation / Q000175:diagnosis / Q000235:genetics; D001165:Arteriovenous Malformations / Q000175:diagnosis* / Q000235:genetics; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D002538:Intracranial Arteriovenous Malformations / Q000175:diagnosis* / Q000235:genetics; D018810:Magnetic Resonance Angiography; D009072:Moyamoya Disease / Q000175:diagnosis / Q000235:genetics; D009456:Neurofibromatosis 1 / Q000175:diagnosis* / Q000235:genetics; D012867:Skin / Q000098:blood supply*; D013577:Syndrome