PMID: 12352531
Issn Print: 0277-2116
Publication Date: 2002/09/01
An Unusual Case of Diarrhea in Schimke Immuno-Osseous Dysplasia
Michael Stormon; Jeremy Friedman; Susan King; Ernest Cutz; Katryn N. Furuya
Excerpt
Schimke immuno-osseous dysplasia (SIOD) is an osteochondrodysplasia that results in short stature and abnormal body proportions. Prominent features of this rare multi-system disorder (Table 1) include progressive nephropathy leading to renal failure, defective cellular immunity with lymphopenia, facial dysmorphism, and cerebral ischemic episodes. Additional features include hypothyroidism, bone marrow hypoplasia, hyperpigmented skin macules, and ocular abnormalities (1). There is significant morbidity and mortality associated with the condition; of the 39 patients reported by Boerkoel et al.(1), 18 had died by age 15. It was recently determined that mutations in SMARCAL1 (SWI/SNF2-related matrix-associated actin-dependent regulator of chromatin, subfamily a-like1), a gene involved in chromatin remodeling, are responsible for this disorder (2).
There is only one previous report on gastrointestinal manifestations in SIOD, in a four-year-old with prolonged diarrhea diagnosed with autoimmune enteropathy (3). We now report a case of prolonged diarrhea in a nine-year-old girl with SIOD proven to be due to atypical mycobacterial infection. We suggest that opportunistic infections are one of the potential causes of gastrointestinal symptoms in patients with Schimke immuno-osseous dysplasia.
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