A rare cause of protein-losing enteropathy and growth retardation in infancy: infantile systemic hyalinosis
TURKISH JOURNAL OF PEDIATRICS, cilt.45, sa.3, ss.258-260, 2003 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 45 Sayı: 3
- Basım Tarihi: 2003
- Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.258-260
- Anahtar Kelimeler: infantile systemic hyalinosis, protein-losing enterapathy, growth retardation thickness of skin
- Dokuz Eylül Üniversitesi Adresli: Evet
Özet
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.