The Turkish Journal of Pediatrics 2003 , Vol 45 , Num 3
A rare cause of protein-losing enteropathy and growth retardation in infancy: infantile systemic hyalinosis

Department of Pediatrics, Dokuz Eylül University Faculty of Medicine, İzmir, Turkey

Department Pathology, Dokuz Eylül University Faculty of Medicine, İzmir, Turkey

Abstract

Infantile systemic hyalinosis is a rare, progressive, fatal condition with a presumably autosomal recessive mode of inheritance. It is characterized by widespread deposition of hyaline material in many tissues. We present a three-month-old girl with hypoproteinemia, growth retardation, and generalized stiff and edematous skin, who was diagnosed as protein-losing enteropathy. A final diagnosis of systemic hyalinosis was made. In this report, we present a very rare entity of infantile systemic hyalinosis, which is a cause of proteinlosing enteropathy and growth retardation in infancy, and review the relevant literature.

Keywords : infantile systemic hyalinosis protein-losing enteropathy growth retardation thickness of skin
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