AI Summary & Key Takeaways
AI InsightThe case has been reported since this patient represents a malignant type that survived till the age of seven and accompanied by Hirschsprung’s disease.
📌 3 Key Takeaways
Abstract
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-Schönberg 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.
Özet
Osteopetrozis lökositlerin süperoksid yapımındaki bozukluk ve kemik rezorbsiyonunda defektle karakterize konjenital bir hastalıktır. Katlım tipi, yaş ve bulgulara göre değişik klasifikasyonları bulunur. Albers-Schonberg hastalığı kalıtım tip ve klinik bulgulara göre varyatlar içerir. Otozomal resesif malignt tipi erken yaşlarda mortal seyreder. Bu olgu 7 yaşına kadar gelmiş malign resesif tip osteopetrozis ve birlikteliğinde Hirschprung hastalığı nedeniyle sunulmuştur.