Spondylocostal Dysostosis with Severe ARDS and Review of Literature

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Spondylocostal Dysostosis with Severe ARDS and Review of Literature

Journal Title: Journal Of Pediatric Critical Care - Year 2018, Vol 5, Issue 2

Abstract

Spondylocostal Dysostosis is a very rare genetic disorder characterized by short stature, short neck, fused or malformed vertebrae and small, missing or fused ribs in different patterns. The severities of symptoms are highly variable and can result in severe respiratory distress at birth resulting in life-threatening illnesses. It has been occasionally reported from Indian sub-continent. It is commonly inherited as autosomal recessive trait and most common mutation is in DLL3 gene. Jarcho and Levine first described these dysplasia in 1938 hence it was also called as Jarcho-Levine Syndrome. Researchers believe that Spondylocostal dysostosis and spinothoracic dysostosis are separate entities with different causes and malformations hence umbrella term of Jarcho-Levin syndrome should only be reserved for spondylocostal dysostosis. Treatment is multidisclinary involving Pediatrician, Respiratory Therapist, Neuro-surgeon , Orthopedician and Genetist. Aggressive treatment of pulmonary infection will yield satisfactory results. We report a 2 year old child of Spondylocostal Dysostosis with severe ARDS( Acute respiratory distress syndrome) which was managed in our Pediatric Intensive Care Unit (PICU).

Authors and Affiliations

Bal Mukund, Hari Prasath, Ashok K Yadav, Ashok Bhandari

Keywords

Spinocostal Dysostosis Spondylocostal Dysostosis Scoliosis ARDS Vertically Expandable Prosthetic Titanium Ribs (VEPTR)

EP ID EP354523
DOI 10.21304/2018.0502.00380
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