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 protein-losing enteropathy and growth retardation in infancy, and review the relevant literature.

How to cite

1.
Büyükgebiz B, Oztürk Y, Arslan N, Ozer E. A rare cause of protein-losing enteropathy and growth retardation in infancy: infantile systemic hyalinosis. Turk J Pediatr 2003; 45: 258-260.