Neutral lipid storage disease: Case report Nötral lipid depo hastaliǧi: Olgu sunumu
Erciyes Tip Dergisi, cilt.29, sa.3, ss.235-238, 2007 (Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 29 Sayı: 3
- Basım Tarihi: 2007
- Dergi Adı: Erciyes Tip Dergisi
- Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.235-238
- Anahtar Kelimeler: ABHD5 protein, human, Ichthyosis, Infant, newborn, Lipidoses
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Neutral lipid storage disease is a rare autosomal recessive inherited lipid storage disease characterized by ichthyosis, leucocyte lipid vacuoles, myopathy, neuropathy, eye and liver involvement, deafness and developmental retardation. Here, we report a newborn presenting with respiratory distress and ichthyosis, later diagnosed to have neutral lipid storage disease. Neutral lipid storage disease should be considered in differential diagnosis of collodion babies with congenital ichthyosis.