A seven year-old-girl with malignant osteopetrosis and accompanying Hirschsprung's disease: Case report
MEDICAL JOURNAL OF BAKIRKOY, cilt.1, sa.2, ss.71-73, 2005 (ESCI, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 1 Sayı: 2
- Basım Tarihi: 2005
- Dergi Adı: MEDICAL JOURNAL OF BAKIRKOY
- Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.71-73
- Trakya Üniversitesi Adresli: Hayır
Özet
Osteopetrosis is a congenital disease characterized by failure of leucocytes to form superoxydes and a defect in bone resorption. It has different classifications according to the type of inheritance, age, and symptoms of onset. Albers-Schonberg disease is classified into variants based on both the mode of inheritance and the clinical findings. The autosomal recessive malignant type is characterized by high mortality in early ages. The case has been reported since this patient represents a malignant type that survived till the age of seven and accompanied by Hirschsprung's disease.