Albers-Schönberg Disease (Marble Bone Disease) – A Clinical Case Repor

Volume 7 | Issue 1 | Jan – April 2019 | Page: 34-38 | Owais Ahmed, Mallangouda S Patil

Authors: Owais Ahmed [1], Mallangouda S Patil [1].

[1] Department of Orthopaedics Al-ameen Medical College and Hospital Athani Road, Vijayapura, Karnataka, India.

Address of Correspondence
Dr. Mallangouda S Patil,
Department of Orthopaedics Al-ameen Medical College and Hospital Athani Road,
Vijayapura – 586108, Karnataka, India.


Background: Albers-Schönberg disease (marble bone disease) is an adult autosomal dominant Type II osteopetrosis, caused by severe impairment of osteoclast-mediated bone resorption due to a mutation in CLCN-7 gene on chromosome 16q13.3; it is diagnosed incidentally based on the presence of a pathological fracture, which usually involves proximal femur and hip. A case of 21 years’ female patient who was brought to casualty with a subtrochanteric fracture of the left femur after a trivial trauma. History of fracture shaft of the right femur 7 years back diagnosed as pathological fracture due to osteopetrosis and treated surgically with plate and screws. In this case, open reduction internal fixation using dynamic hip screw (without autologous bone graft) was preferred over nonoperative modality for accurate reduction, stable fixation, early mobilization, fewer complications, and better functional outcome. Surgical treatment of fracture in these cases is a challenge to an orthopedic surgeon due to intraoperative difficulties and post-operative complications. Even though with intraoperative difficulties, operative modalities should be considered for a better outcome which requires proper pre-operative planning, with meticulous intraoperative skills and planned post-operative care.
Keywords: Osteopetrosis, Pathological fracture, Rugger-Jersey Spine, Dynamic hip screw, Femur.


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How to Cite this article: Ahmed O, Patil M S. Albers-Schönberg Disease (Marble Bone Disease) – A Clinical Case Repor. J Kar Orth Assoc. Jan-April 2019; 7(1): 34-38.

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