Intestinal lymphangiectasia in a patient with infantile systemic hyalinosis syndrome: a rare cause of protein-losing enteropathy

Ann Saudi Med. 2012 Mar-Apr;32(2):206-8. doi: 10.5144/0256-4947.2012.206.

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.

Publication types

  • Case Reports

MeSH terms

  • Humans
  • Hyaline Fibromatosis Syndrome / complications*
  • Infant
  • Lymphangiectasis, Intestinal / complications*
  • Lymphangiectasis, Intestinal / diagnosis
  • Lymphangiectasis, Intestinal / pathology
  • Male
  • Protein-Losing Enteropathies* / diagnosis