Gaucher's disease type 2: Case report Gaucher hastaliǧi tip 2
Turkiye Klinikleri Pediatri, cilt.21, sa.1, ss.37-39, 2012 (Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 21 Sayı: 1
- Basım Tarihi: 2012
- Dergi Adı: Turkiye Klinikleri Pediatri
- Derginin Tarandığı İndeksler: Scopus
- Sayfa Sayıları: ss.37-39
- Anahtar Kelimeler: Gaucher disease, Hepatomegaly, Splenomegaly
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Gaucher's disease is the most common sphingolipid storage disease, characterized by glucocerebrocide accumulation in reticuloendothelial cells due to deficiency of glucocerebrosidase enzyme. It is an autosomal recessive disease. Three different types that can cause different clinical findings have been identified. Type 2 Gaucher's disease (acute neuropatic or infantile type); the initial onset age before 6 months, especially affect the brain stem and cranial nerves and leading to widespread neuronal degeneration are often occurs. Nutritional disorders, recurrent lung infections, hepatosplenomegaly, opistotonus, cherry-red macula can be seen in. In this article, we presented a 10-month child with Type 2 Gaucher's disease because of rarity. Copyright © 2012 by Türkiye Klinikleri.