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Early Onset Cerebral Infarction in Schimke Immuno-Osseous Dysplasia.

ABSTRACT: Schimke Immuno-osseous Dysplasia (SIOD) is a rare autosomal recessive disease caused by a biallelic mutation in SMARCAL1 gene. Typical findings in SIOD include spondylo-epiphyseal dysplasia, steroid resistance nephrotic syndrome, progressive renal failure, T-cell immunodeficiency, bone marrow failure, and cerebral infarction. In this case report, we describe a 9-yr-old girl who presented with failure to thrive in infancy. Nephrotic syndrome was diagnosed at the age of four years. She had three episodes of admission with cerebral stroke due to moyamoya syndrome. In the last admission at Namazi Hospital, Shiraz, southern Iran, in October 2016, she had new cerebral ischemia, developed seizure, and finally died.

SUBMITTER: Hossein Babaei A

PROVIDER: S-EPMC6045942 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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Early Onset Cerebral Infarction in Schimke Immuno-Osseous Dysplasia.

Hossein Babaei Amir A Inaloo Soroor S Basiratnia Mitra M Derakhshan Ali A

Iranian journal of child neurology 20180101 3

Schimke Immuno-osseous Dysplasia (SIOD) is a rare autosomal recessive disease caused by a biallelic mutation in SMARCAL1 gene. Typical findings in SIOD include spondylo-epiphyseal dysplasia, steroid resistance nephrotic syndrome, progressive renal failure, T-cell immunodeficiency, bone marrow failure, and cerebral infarction. In this case report, we describe a 9-yr-old girl who presented with failure to thrive in infancy. Nephrotic syndrome was diagnosed at the age of four years. She had three e ...[more]

PMID: 30026777

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