Jarcho-Levin syndrome with diastematomyelia and a dorsal dermal sinus

Raja Tamiru, MD; Tesfahunegn Hailemariam, MD; Amanuel Aboye, MD; Bethel Germamo, MD; Yodit Abraham, MD; Erko Chala, MD; Samuel Sisay Hailu, MD

Radiology Case Reports (Feb 2024)

Jarcho-Levin syndrome with diastematomyelia and a dorsal dermal sinus

Raja Tamiru, MD,
Tesfahunegn Hailemariam, MD,
Amanuel Aboye, MD,
Bethel Germamo, MD,
Yodit Abraham, MD,
Erko Chala, MD,
Samuel Sisay Hailu, MD

Affiliations

Raja Tamiru, MD: Corresponding author.; Department of Radiology, Addis Ababa University, College of Health Sciences, Addis Ababa, Ethiopia
Tesfahunegn Hailemariam, MD: Department of Radiology, Addis Ababa University, College of Health Sciences, Addis Ababa, Ethiopia
Amanuel Aboye, MD: Department of Radiology, Addis Ababa University, College of Health Sciences, Addis Ababa, Ethiopia
Bethel Germamo, MD: Department of Radiology, Addis Ababa University, College of Health Sciences, Addis Ababa, Ethiopia
Yodit Abraham, MD: Department of Radiology, Addis Ababa University, College of Health Sciences, Addis Ababa, Ethiopia
Erko Chala, MD: Department of Radiology, Addis Ababa University, College of Health Sciences, Addis Ababa, Ethiopia
Samuel Sisay Hailu, MD: Department of Radiology, Addis Ababa University, College of Health Sciences, Addis Ababa, Ethiopia

Journal volume & issue: Vol. 19, no. 2
pp. 727 – 731

Abstract

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Jarcho-Levin syndrome (JLS) is a congenital dysostosis characterized by multiple vertebral and intrinsic rib abnormalities. JLS and neural tube abnormalities rarely occur together. There have been few cases of JLS associated with a split spinal cord malformation (diastematomyelia). A dorsal dermal sinus is a tract from the skin that may end in soft tissue, epidural space, or most commonly intradural. We report the case of a 5-day-old male neonate with JLS who presented with respiratory distress immediately after birth. A chest radiograph revealed multiple bilateral asymmetric rib deformities and irregular rib fusions, multi-level segmentation defects of the thoracic vertebrae, and associated dextroconvex scoliosis of the thoracic spine. He was subsequently diagnosed with diastematomyelia, a dorsal dermal sinus, and tethered cord on ultrasound. The infant succumbed to respiratory distress from superimposed pneumonia. JLS is rarely associated with distematomyelia, and there are only ten reports worldwide. We presented the eleventh case of JLS with type 2 diastematomyelia. In addition, this is the first reported case of co-occurrence with a dorsal dermal sinus.

Published in Radiology Case Reports

ISSN: 1930-0433 (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Medicine: Medicine (General): Medical physics. Medical radiology. Nuclear medicine
Website: https://www.sciencedirect.com/journal/radiology-case-reports

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