A rare cause of protein-losing enteropathy and growth retardation in infancy: infantile systemic hyalinosis

Buyukgebiz B., Ozturk Y., Arslan N., Ozer E.

TURKISH JOURNAL OF PEDIATRICS, vol.45, no.3, pp.258-260, 2003 (SCI-Expanded) identifier

  • Publication Type: Article / Article
  • Volume: 45 Issue: 3
  • Publication Date: 2003
  • Journal Name: TURKISH JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.258-260
  • Keywords: infantile systemic hyalinosis, protein-losing enterapathy, growth retardation thickness of skin
  • Dokuz Eylül University Affiliated: Yes

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.