Jarcho-Levin syndrome with diastematomyelia and a dorsal dermal sinus
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 s...
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2024-02-01
|
| Series: | Radiology Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1930043323008488 |
| _version_ | 1827591180331778048 |
|---|---|
| author | Raja Tamiru, MD Tesfahunegn Hailemariam, MD Amanuel Aboye, MD Bethel Germamo, MD Yodit Abraham, MD Erko Chala, MD Samuel Sisay Hailu, MD |
| author_facet | Raja Tamiru, MD Tesfahunegn Hailemariam, MD Amanuel Aboye, MD Bethel Germamo, MD Yodit Abraham, MD Erko Chala, MD Samuel Sisay Hailu, MD |
| author_sort | Raja Tamiru, MD |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-09T01:29:13Z |
| format | Article |
| id | doaj.art-45b36db9e4334c40a35019d8e3cd129d |
| institution | Directory Open Access Journal |
| issn | 1930-0433 |
| language | English |
| last_indexed | 2024-03-09T01:29:13Z |
| publishDate | 2024-02-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Radiology Case Reports |
| spelling | doaj.art-45b36db9e4334c40a35019d8e3cd129d2023-12-10T06:14:37ZengElsevierRadiology Case Reports1930-04332024-02-01192727731Jarcho-Levin syndrome with diastematomyelia and a dorsal dermal sinusRaja Tamiru, MD0Tesfahunegn Hailemariam, MD1Amanuel Aboye, MD2Bethel Germamo, MD3Yodit Abraham, MD4Erko Chala, MD5Samuel Sisay Hailu, MD6Corresponding author.; Department of Radiology, Addis Ababa University, College of Health Sciences, Addis Ababa, EthiopiaDepartment of Radiology, Addis Ababa University, College of Health Sciences, Addis Ababa, EthiopiaDepartment of Radiology, Addis Ababa University, College of Health Sciences, Addis Ababa, EthiopiaDepartment of Radiology, Addis Ababa University, College of Health Sciences, Addis Ababa, EthiopiaDepartment of Radiology, Addis Ababa University, College of Health Sciences, Addis Ababa, EthiopiaDepartment of Radiology, Addis Ababa University, College of Health Sciences, Addis Ababa, EthiopiaDepartment of Radiology, Addis Ababa University, College of Health Sciences, Addis Ababa, EthiopiaJarcho-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.http://www.sciencedirect.com/science/article/pii/S1930043323008488Jarcho-Levin syndromeDiastematomyeliaDorsal dermal sinus |
| spellingShingle | Raja Tamiru, MD Tesfahunegn Hailemariam, MD Amanuel Aboye, MD Bethel Germamo, MD Yodit Abraham, MD Erko Chala, MD Samuel Sisay Hailu, MD Jarcho-Levin syndrome with diastematomyelia and a dorsal dermal sinus Radiology Case Reports Jarcho-Levin syndrome Diastematomyelia Dorsal dermal sinus |
| title | Jarcho-Levin syndrome with diastematomyelia and a dorsal dermal sinus |
| title_full | Jarcho-Levin syndrome with diastematomyelia and a dorsal dermal sinus |
| title_fullStr | Jarcho-Levin syndrome with diastematomyelia and a dorsal dermal sinus |
| title_full_unstemmed | Jarcho-Levin syndrome with diastematomyelia and a dorsal dermal sinus |
| title_short | Jarcho-Levin syndrome with diastematomyelia and a dorsal dermal sinus |
| title_sort | jarcho levin syndrome with diastematomyelia and a dorsal dermal sinus |
| topic | Jarcho-Levin syndrome Diastematomyelia Dorsal dermal sinus |
| url | http://www.sciencedirect.com/science/article/pii/S1930043323008488 |
| work_keys_str_mv | AT rajatamirumd jarcholevinsyndromewithdiastematomyeliaandadorsaldermalsinus AT tesfahunegnhailemariammd jarcholevinsyndromewithdiastematomyeliaandadorsaldermalsinus AT amanuelaboyemd jarcholevinsyndromewithdiastematomyeliaandadorsaldermalsinus AT bethelgermamomd jarcholevinsyndromewithdiastematomyeliaandadorsaldermalsinus AT yoditabrahammd jarcholevinsyndromewithdiastematomyeliaandadorsaldermalsinus AT erkochalamd jarcholevinsyndromewithdiastematomyeliaandadorsaldermalsinus AT samuelsisayhailumd jarcholevinsyndromewithdiastematomyeliaandadorsaldermalsinus |