progressive diaphyseal dysplasia

Camurati-Engelmann disease, also known as progressive diaphyseal dysplasia, is a rare autosomal dominant sclerosing bone dysplasia. It begins in childhood and follows a progressive course.

Clinical presentation

Common symptoms include extremity pain, muscle weakness, cranial nerve impairment and waddling gait. A small proportion can be asymptomatic. Patients can have hepatosplenomegaly .

Pathology

In a vast majority of cases, it occurs from a defect in the TGFB1 gene. It is due to osteoblastic overactivity.

Distribution

Tends to be bilateral and symmetrical. Can affect any bone but has a greater predilection for the long bones (femur, tibia, fibula, humerus, ulna and radius). Other common sites include the skull and pelvis.

Radiographic features

Plain radiograph

• there is fusiform bony enlargement with sclerosis in long bones
• the epiphyses are spared

Nuclear medicine

• affected regions show high uptake with Tc-MDP bone scintigraphy representing osteoblastic activity

Treatment and prognosis

Complications

• progressive stenosis of the optic canals and compressive optic neuropathy can give papilledema

History and etymology

It is named after :

• M Camurati, Italian physician
• G Engelmann, German physician

Differential diagnosis

General imaging differential considerations include:

• van Buchem disease
• osteopetrosis
• Ribbing disease (multiple diaphyseal sclerosis): can appear similar but presents in middle age

Siehe auch:

• Osteopetrose
• Ribbing-Syndrom

und weiter:

• Skelettdysplasie
• sklerosierende Knochendysplasien
• Kraniodiaphysäre Dysplasie