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  • Title: Intestinal lymphangiectasia in a patient with infantile systemic hyalinosis syndrome: a rare cause of protein-losing enteropathy.
    Author: Alreheili K, AlMehaidib A, Alsaleem K, Banemi M, Aldekhail W, Al-Mayouf SM.
    Journal: Ann Saudi Med; 2012; 32(2):206-8. PubMed ID: 22366835.
    Abstract:
    Infantile 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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