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 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.

Mosaic Neurofibromatosis Type 1: A Systematic Review

“…Three hundred twenty individuals were identified from the case reports and two large case series, and we present them separately. Table shows the 157 well‐detailed individual cases from the 109 articles , Table shows the 124 individuals that Ruggieri and Huson reported, and Table shows the 39 that Listernick et al described.…”

“…The calculated prevalence of MNF1 in the general population is 1 in 36,000-40,000 individuals (0.0006-0.0027%), although it is probably underreported (8)(9)(10)(11)(12). Individuals present with features of NF1 such as caf e au lait spots-cutaneous or subcutaneous neurofibromas in a localized area of the body.…”

Anesthetic management of a parturient with segmental neurofibromatosis

“…Additional concerns regarding local involvement include nerve compression due to hemorrhage into a penetrated neurofibroma and the potential to spread mutated cells through the needle track during neuraxial placement [18]. With regards to SNF specifically, in review of literature, there are several case reports of central nervous system and large peripheral nervous system involvement which must be considered before pursuing neuraxial anesthesia [19][20][21][22][23][24]. We believe there is potential for complications and can only be safely ruled out with more extensive evaluation.…”

Neuro-vascular Abnormalities with a Metameric Nevus: A Case Report and Review of Cobb Syndrome

“…There has been one case report of Cobb syndrome in association with neurofibromatosis type I 13 and another with tethered cord. 12 Tethered cord syndrome was excluded from our patient by her prior neurologist.…”