Primary Diagnosis

Osteopetrosis.

Secondary Diagnosis

N/A

Diagnosis Discussion

Osteopetrosis, (Albers-Schonberg Disease or marble bone disease) is a congenital disease that prevents formation of bone marrow and results in abnormal bone development, blindness, stunted growth, abnormal dental development and fragile bones. It occurs because there is a defect in cells called osteoclasts, which are necessary for the formation of bone marrow. In patients with osteopetrosis, osteoclasts don't work correctly and the cavity for bone marrow does not form. Few blood cells form because of the absence of bone marrow. Other blood-forming organs, particularly the spleen and liver, take over in blood production. As a result, these organs become greatly enlarged. Bones look solid on X-ray, but are actually brittle. Abnormal growth results. Patients usually stop growing at age 8 or 10. Differential diagnosis includes phyknodysostosis, Pagets disease, renal osteodystrophy, osteomalacia, hypervitaminosis D, fluorosis, Hyper and hypo parathyroidism, sickle cell, myelofibrosis, mastocytosis and others.

General Anatomic Area:

Cervical

Secondary Anatomic Area:

N/A

Disease Category:

Metabolic

Contributor:

AE Flanders, MD

Date:

08/01/2004

Difficulty Level:

Easy

Pathology Confirmed?:

No
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ACR Category Number:

N/A

Keywords:

osteosclerosis