A rare cause of protein-losing enteropathy and growth retardation in infancy: infantile systemic hyalinosis
Büyükgebiz, B.; Oztürk, Y.; Arslan, N.; Ozer, E.
Turkish Journal of Pediatrics 45(3): 258-260
2003
ISSN/ISBN: 0041-4301 PMID: 14696808 Document Number: 553646
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.