title: Intestinal lymphangiectasia in a patient with infantile systemic hyalinosis syndrome: a rare cause of protein-losing enteropathy.
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.
authors.affiliation: Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
authors.forename: Khalid
authors.initials: K
authors.lastname: Alreheili
authors.forename: Ali
authors.initials: A
authors.lastname: AlMehaidib
authors.forename: Khalid
authors.initials: K
authors.lastname: Alsaleem
authors.forename: Mohammad
authors.initials: M
authors.lastname: Banemi
authors.forename: Wajeeh
authors.initials: W
authors.lastname: Aldekhail
authors.forename: Sulaiman M
authors.initials: SM
authors.lastname: Al-Mayouf
mesh_terms: D006801:Humans; D057770:Hyaline Fibromatosis Syndrome / Q000150:complications*; D007223:Infant; D008201:Lymphangiectasis, Intestinal / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D008297:Male; D011504:Protein-Losing Enteropathies / Q000175:diagnosis