Segmental Neurofibromatosis Type 1 (NF1) Associated with Cobb Syndrome: Case Report

Abstract

We present a 3-month-old girl who showed segmental NF1 and Cobb syndrome. She has a cutaneous vascular malformation located on the middle T₄–T₆ 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.

Key words

neurofibromatosis type 1 - segmental neurofibromatosis type 1 - Cobb syndrome - Pascual-Castroviejo type II syndrome - cutaneous vascular malformations

References

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