World Neurosurg. 2019 Dec;132:236-238. doi: 10.1016/j.wneu.2019.08.179. Epub 2019 Aug 31. https://www.ncbi.nlm.nih.gov/pubmed/31479788
Jarcho-Levin Syndrome and Concomitant Carotid Glomus Tumor: First Reported Case.
Satis S1, Tuna M2, Alparslan N2, Dere O3.
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Abstract
BACKGROUND:
Jarcho-Levin syndrome (JLS) is a rare congenital disorder characterized by different clinical and radiologic findings. The disease was first reported by Jarcho and Levin in 1938, and it was described as the presence of various malformations or abnormal fusion in the thoracic vertebrae and ribs, short trunk, and respiratory distress.
CASE DESCRIPTION:
In our case, fusion at the thoracic and cervical vertebrae, butterfly vertebrae, and a crablike-shaped thorax was present. The patient had a short trunk, short stature, and long extremities. Moreover, he had a syndromic face and restrictive-type respiratory distress. There was a glomus tumor in the carotid space. In our literature review, we found that neural tube defects are frequently present in this syndrome. However, we could not identify any cases with affected neural crest cells.
CONCLUSIONS:
JLS may affect cells derived from the neural crest located between the neural tube and surface ectoderm. Therefore patients with JLS should be screened for other tumors located in this area.
Copyright © 2019 Elsevier Inc. All rights reserved.
KEYWORDS:
Congenital disorder; Glomus tumor; Jarcho-Levin syndromePMID: 31479788 DOI: 10.1016/j.wneu.2019.08.179
