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Annals of Saudi medicine · Mar 2012
Case ReportsIntestinal lymphangiectasia in a patient with infantile systemic hyalinosis syndrome: a rare cause of protein-losing enteropathy.
- Khalid Alreheili, Ali AlMehaidib, Khalid Alsaleem, Mohammad Banemi, Wajeeh Aldekhail, and Sulaiman M Al-Mayouf.
- Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
- Ann Saudi Med. 2012 Mar 1; 32 (2): 206208206-8.
AbstractInfantile systemic hyalinosis (ISH) is a rare autosomal recessive disease. Typically, ISH patients present with progressive painful joint contractures, intractable diarrhea, hyperpigmented skin lesions, and peri-anal fleshy nodules. We report a case of a 19-month-old male child with atypical ISH presentation. His main clinical finding was protein-losing enteropathy due to intestinal lymphangectasia. This report is intended to enhance awareness about the gastrointestinal tract presentation of ISH.
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