Patient presenting with diffuse body pain. History of pathological fracture and sensory neural deafness.
Clinically having prominent forehead and draining sinus from chin indicative of mandibular infection.
What is your diagnosis?
Ans: osteopeteosis or marble bone disease.
Three definite clinical forms of the disease, infantile, intermediate, and adult onset are recognized founded upon age and clinical features. In contrast to the infantile type with more intense manifestations, the adult onset type (Albers-Schönberg disease) is usually less pronounced clinically. Osteopetrosis, literally "stone bone", also known as marble bone disease, is an extremely rare inheriteddisorder whereby the bones harden, becoming denser, in contrast to more prevalent conditions like osteoporosis, in which the bones become less dense and more brittle, or osteomalacia, in which the bones soften. Osteopetrosis can cause bones to dissolve and break.[1]
It can cause osteosclerosis.[2]. It is considered to be prototype of osteosclerosing dysplasias. The cause of the disease is understood to be malfunctioning osteoclasts. Radiological findings will show a bone-in-bone appearance.[3]
Signs and symptoms
A 17-year-old male with osteopetrosis: Typical cranial deformity and thoracic scoliosis
Despite this excess bone formation, people with osteopetrosis tend to have bones that are more brittle than normal. Mild osteopetrosis may cause no symptoms, and present no problems. However, serious forms can result in stunted growth, deformity, and increased likelihood of fractures; also, patients suffer anemia, recurrent infections, and hepatosplenomegaly due to bone expansion leading to bone marrow narrowing and extramedullary hematopoiesis. It can also result in blindness, facial paralysis, and deafness, due to the increased pressure put on the nerves by the extra bone
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