Alreheili Khalid, AlMehaidib Ali, Alsaleem Khalid, Banemi Mohammad, Aldekhail Wajeeh, Al-Mayouf Sulaiman M
Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Ann Saudi Med. 2012 Mar-Apr;32(2):206-8. doi: 10.5144/0256-4947.2012.206.
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.
婴儿系统性透明变性（ISH）是一种罕见的常染色体隐性疾病。典型的ISH患者表现为进行性疼痛性关节挛缩、顽固性腹泻、色素沉着性皮肤病变和肛周肉质结节。我们报告一例19个月大男性儿童的非典型ISH表现。他的主要临床发现是由于肠道淋巴管扩张导致的蛋白丢失性肠病。本报告旨在提高对ISH胃肠道表现的认识。
