1.
Annals of Saudi Medicine. 2012; 32 (2): 206-208
in English
| IMEMR
| ID: emr-118101
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 perianal 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