Type II autosomal dominant osteopetrosis

SENEL K., UGUR M., ERDAL A., Ozdemir H.

RHEUMATOLOGY INTERNATIONAL, cilt.22, sa.3, ss.116-118, 2002 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 22 Sayı: 3
  • Basım Tarihi: 2002
  • Doi Numarası: 10.1007/s00296-002-0200-4
  • Dergi Adı: RHEUMATOLOGY INTERNATIONAL
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.116-118
  • Atatürk Üniversitesi Adresli: Evet

Özet

Two principal types of osteopetrosis have been distinguished. One is the dominantly inherited, relatively benign condition which is often detected radiologically in asymptomatic adults. A second type is the recessive, lethal, malignant form. Autosomal dominant osteopetrosis (ADO) has two distinct radiological subtypes known as types I and II. We report here a 23-year-old patient with ADO type II. Radiographic investigations of a skeletal survey showed generalised osteosclerosis with thickened cortex. Magnetic resonance imaging (MRI) scan disclosed osteosclerosis in superior and inferior portions of the vertebral bodies which produced a 'sandwich' appearance. The 'bone-within-bone' appearance was seen in the ileum of the patient. The vertebral bone density was found markedly elevated. The carbonic anhydrase II level was found to be normal. We discuss here the genetic etiology of this disorder.