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Jarcho-Levin Syndrome with Splenic Herniation: A Rare Presentation
Patient: Female, 5 Final Diagnosis: Jarco-Levine syndrome Symptoms: Respiatory distress Medication: — Clinical Procedure: Supportive management Specialty: Pediatrics and Neonatology OBJECTIVE: Congenital defects/diseases BACKGROUND: Jarcho-Levin syndrome, also known as spondylothoracic dysplasia and...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
International Scientific Literature, Inc.
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5067110/ https://www.ncbi.nlm.nih.gov/pubmed/27739421 http://dx.doi.org/10.12659/AJCR.898165 |
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author | Chandra, Namita Kumar, Sanjay Raj, Vaibhav Vishwakarma, Pawan Kumar Sinha, Sheela Saha, Ram Prakash |
author_facet | Chandra, Namita Kumar, Sanjay Raj, Vaibhav Vishwakarma, Pawan Kumar Sinha, Sheela Saha, Ram Prakash |
author_sort | Chandra, Namita |
collection | PubMed |
description | Patient: Female, 5 Final Diagnosis: Jarco-Levine syndrome Symptoms: Respiatory distress Medication: — Clinical Procedure: Supportive management Specialty: Pediatrics and Neonatology OBJECTIVE: Congenital defects/diseases BACKGROUND: Jarcho-Levin syndrome, also known as spondylothoracic dysplasia and spondylocostal dysplasia, is characterized by varieties of vertebrae and rib anomalies. Jarcho-Levin syndrome is a clinical-radiological diagnosis with clinical evidence of short neck, short trunk, normal-sized limbs, or increased arm span, and vertebral and rib defects on the skeletal survey. CASE REPORT: About 400 cases have been reported in world literature and 18 in our Indian literature. We report the case of a one-day-old female baby with a short trunk, short neck, low hairline, apparently long limbs, protuberant abdomen, mild midfacial dysmorphism, low-set ears, and a high-arched palate. There was one cystic swelling over the lateral side of the left hypochondrium sized about 3×3 centimeters, nonpusatile; the skin over the swelling was normal color and free. Radiological findings showed crowding of ribs with pebble-like appearance of the vertebrae and diastematomyelia of the spinal cord (type 2). We report here the first case of Jarcho-Levin syndrome with splenic herniation. To the best of our knowledge there have been no case reports of Jarcho-Levin syndrome with splenic herniation in the literature. CONCLUSIONS: Jarcho-Levin syndrome can be easily diagnosed by clinical-radiological findings in newborns, with short trunk having a high index of suspicion. Prenatal diagnosis using level 2 ultrasonography can make it easier to manage the baby after delivery. Management should be from the basic neonatal care to prevention and immediate treatment of recurrent respiratory infections. Spinal surgical intervention to improve the thoracic volume and hence decrease the pulmonary restriction has been tried. |
format | Online Article Text |
id | pubmed-5067110 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | International Scientific Literature, Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-50671102016-10-25 Jarcho-Levin Syndrome with Splenic Herniation: A Rare Presentation Chandra, Namita Kumar, Sanjay Raj, Vaibhav Vishwakarma, Pawan Kumar Sinha, Sheela Saha, Ram Prakash Am J Case Rep Articles Patient: Female, 5 Final Diagnosis: Jarco-Levine syndrome Symptoms: Respiatory distress Medication: — Clinical Procedure: Supportive management Specialty: Pediatrics and Neonatology OBJECTIVE: Congenital defects/diseases BACKGROUND: Jarcho-Levin syndrome, also known as spondylothoracic dysplasia and spondylocostal dysplasia, is characterized by varieties of vertebrae and rib anomalies. Jarcho-Levin syndrome is a clinical-radiological diagnosis with clinical evidence of short neck, short trunk, normal-sized limbs, or increased arm span, and vertebral and rib defects on the skeletal survey. CASE REPORT: About 400 cases have been reported in world literature and 18 in our Indian literature. We report the case of a one-day-old female baby with a short trunk, short neck, low hairline, apparently long limbs, protuberant abdomen, mild midfacial dysmorphism, low-set ears, and a high-arched palate. There was one cystic swelling over the lateral side of the left hypochondrium sized about 3×3 centimeters, nonpusatile; the skin over the swelling was normal color and free. Radiological findings showed crowding of ribs with pebble-like appearance of the vertebrae and diastematomyelia of the spinal cord (type 2). We report here the first case of Jarcho-Levin syndrome with splenic herniation. To the best of our knowledge there have been no case reports of Jarcho-Levin syndrome with splenic herniation in the literature. CONCLUSIONS: Jarcho-Levin syndrome can be easily diagnosed by clinical-radiological findings in newborns, with short trunk having a high index of suspicion. Prenatal diagnosis using level 2 ultrasonography can make it easier to manage the baby after delivery. Management should be from the basic neonatal care to prevention and immediate treatment of recurrent respiratory infections. Spinal surgical intervention to improve the thoracic volume and hence decrease the pulmonary restriction has been tried. International Scientific Literature, Inc. 2016-10-14 /pmc/articles/PMC5067110/ /pubmed/27739421 http://dx.doi.org/10.12659/AJCR.898165 Text en © Am J Case Rep, 2016 This work is licensed under Creative Common Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0) |
spellingShingle | Articles Chandra, Namita Kumar, Sanjay Raj, Vaibhav Vishwakarma, Pawan Kumar Sinha, Sheela Saha, Ram Prakash Jarcho-Levin Syndrome with Splenic Herniation: A Rare Presentation |
title | Jarcho-Levin Syndrome with Splenic Herniation: A Rare Presentation |
title_full | Jarcho-Levin Syndrome with Splenic Herniation: A Rare Presentation |
title_fullStr | Jarcho-Levin Syndrome with Splenic Herniation: A Rare Presentation |
title_full_unstemmed | Jarcho-Levin Syndrome with Splenic Herniation: A Rare Presentation |
title_short | Jarcho-Levin Syndrome with Splenic Herniation: A Rare Presentation |
title_sort | jarcho-levin syndrome with splenic herniation: a rare presentation |
topic | Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5067110/ https://www.ncbi.nlm.nih.gov/pubmed/27739421 http://dx.doi.org/10.12659/AJCR.898165 |
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