Osteopetrorikets: Olgu sunumu

Özet

Üç aylık erkek hasta, huzursuzluk, hırıltılı solunum, terleme yakınmasıyla getirildi. Kalsiyum (Ca) 7.7 mg/dl, fosfor (P) 3.3 mg/dl, alkalen fosfataz (ALP) düzeyi 1818 IU/L idi. Parathormon (PTH) düzeyi (411 pg/ml) yüksek bulundu. Kemik grafilerinde kemik yapılarda belirgin yaygın radyodansite artışı, ön kol grafisinde fırçamsı görünüm ve çanaklasma mevcuttu. Bu bulgularla hastada osteopetrorikets düşünüldü. 300.000 IU D vitamini intramüsküler olarak yapıldı. Günlük 400 IU D vitamini şeklinde devam edildi. Hastaya kemik iliği transplantasyonu planlandı. Hastaya ait bulgular literatür eşliğinde tartışıldı.

Abstract

A 3-month-old boy was brought to the hospital with complaints of uneasiness and sweating. Calcium level was 7.7 mg/dl, phosphorus was 3.3 mg/dl, alkaline phosphatase was 1818 IU/L. Parathormone level was high (411 pg/ml). X-rays of the bones revealed generalized increased bone density, cupping and flaring of the distal epiphyses of the radius and ulna. Radiographic and laboratory findings were compatible with osteopetrosis and rickets; therefore osteopetrorickets was diagnosed. 300.000 IU vitamin D was given intramuscularly, and 400 IU vitamin D was continued daily. Bone marrow transplantation was planned. The case was discussed in the light of current literature.