Journal of Clinical and Diagnostic Research, ISSN - 0973 - 709X

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Case report
Year : 2018 | Month : August | Volume : 12 | Issue : 8 | Page : SD03 - SD05

Schimke Immuno-Osseous Dysplasia with Growth Retardation- A Case Report

Elham Hashemi Dehkordi, Payam Samei, Neda Mostofizadeh, Mahin Hashemipour, Mohammad Zolfaghari

1. Department of Paediatric Endocrinology, Isfahan University of Medical Sciences, Isfahan, Iran. 2. Department of Paediatric Endocrinology, Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran 3. Department of Paediatrics, School of Medicine and Student Research Committee, Isfahan University of Medical Sciences, Isfahan, Iran. 4. Endocrine and Metabolism Research Center, Isfahan University of Medical Sciences, Isfahan, Iran. 5. Student Research Committee, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.

Correspondence Address :
Dr. Payam Samei,
Department of Pediatric Endocrinology, Child Growth and Development Research Center, Research Institute for Primordial Prevention of
Non-communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran
E-mail: mhmzolfaghari89@ssu.ac.ir

Abstract

Schimke-Immuno-Osseous Dysplasia (SIOD) is a rare multisystem progressive disorder which has an autosomal recessive inheritance pattern. This disorder can present with disproportionate short stature, spondyloepiphyseal dysplasia, progressive renal disease, and signs and symptoms of impaired cellular immunity. In this report we present a case of SIOD, the second child of consanguineous (3rd degree) Iranian parents. A five-year-old girl was referred for evaluation of growth retardation. The patient had normal development but the growth rate was slower than normal. The case had the typical manifestation of SIOD which presented first by growth failure (11.3 kg and 86 cm - below 5% percentile for weight and height). Molecular genetic testing indicated biallelic pathogenic variants in SMARCAL1. The most important thing about the case was her parental consanguinity and having a sister with nephrotic syndrome who died early in life. It is recommended that in the cases with poor growth and such a suspected family history the diagnosis of SIOD should be kept in mind and further evaluations should be performed. In addition, proper short-interval follow up is recommended for cases with diagnosis of SIOD in order to have a better evaluation and management of the disease related complication.

Keywords

Autosomal recessive inheritance pattern, Consanguinity, Growth, Proteinuria

How to cite this article :

Elham Hashemi Dehkordi, Payam Samei, Neda Mostofizadeh, Mahin Hashemipour, Mohammad Zolfaghari. SCHIMKE IMMUNO-OSSEOUS DYSPLASIA WITH GROWTH RETARDATION- A CASE REPORT. Journal of Clinical and Diagnostic Research [serial online] 2018 August [cited: 2018 Jul 23 ]; 12:SD03-SD05. Available from
http://www.jcdr.net/back_issues.asp?issn=0973-709x&year=2018&month=August&volume=12&issue=8&page=SD03-SD05&id=11909

DOI and Others

DOI: 10.7860/JCDR/2018/36138.11909

Date of Submission: Feb 23, 2018
Date of Peer Review: Apr 06, 2018
Date of Acceptance: Jun 01, 2018
Date of Publishing: Aug 01, 2018

FINANCIAL OR OTHER COMPETING INTERESTS: None.

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