Progressive diaphyseal dysplasia

Introduction to progressive dysplasia The disease is also known as Engelmann's disease, diaphyseal sclerosis and camurati-Engelmann-Ribbing disease. It is characterized by a fusiform enlargement and hardening of the long bone symmetry. The disease is rare. Some people have a slightly more male than female. The average age of onset is 19.2 years old. From March to 57 years old, the long bones are followed by the tibia, femur and tibia. The humerus, ulna and humerus, hand and foot bones are rare. The skull is also a good site. basic knowledge The proportion of illness: 0.005% Susceptible people: no specific population Mode of infection: non-infectious Complications: muscle atrophy

Progressive dysplasia

The cause of this disease is unknown. At present, it is considered to be congenital dysplasia. Studies have shown that this disease may be an autosomal dominant hereditary disease. Most patients have multiple patients with the same disease.

Progressive dysplasia prevention

The prognosis of this disease is generally good. In severe cases, headache, hearing loss, olfactory sensation, eye atrophy, facial paralysis, etc. may occur due to increased intracranial pressure and cranial nerve compression. The disease does not affect growth and life processes. The cause of this disease is unknown. And many suspected to be a hereditary disease, so there is no effective preventive measures.

Progressive dysplasia complications Complications muscle atrophy

The disease appeared more than in early childhood, learning to walk time delay, gait swing, after the symptoms gradually worsened, muscles atrophy, limb muscles atrophy significantly in adolescence, thick bones, limbs sore, more often after fatigue, mostly The reason for the treatment, in the advanced stage, the disease can also cause thickening of the skull base, due to the thickened skull base caused by the narrowing of the aperture, the corresponding clinical manifestations of compression of the nerve vessels; optic nerve and auditory nerve are most often involved, followed by facial nerve, serious Blindness, deafness or facial paralysis can occur, and young patients sometimes develop poor or non-development of secondary sexual characteristics and prolong puberty.

Progressive dysplasia symptoms Common symptoms Weight loss muscle atrophy Swing gait Baby teeth delay Delayed deafness Forehead and humerus protrusion

The main manifestation of this disease is delayed child teeth, walking late and unstable, with special swing gait. As the disease progresses, leg pain and headache appear and gradually increase, and the long bones can be thickened and thickened. Weakness, weight loss, dryness, malnutrition, head enlargement, forehead protrusion, due to hyperplasia of the skull base plate, can compress the cranial nerve to produce eye atrophy, deafness and other symptoms, due to the reduction of the marrow cavity, hematopoietic dysfunction, so The liver and spleen have a compensatory enlargement.

Progressive dysplasia check

The examination method of this disease is mainly X-ray examination. The X-ray shows that the long bone is spindle-shaped thickening, the cortex is thickened, and the medullary cavity is narrowed (inside and inside the bone), often does not invade the epiphysis, and the skull base is hardened. Bilaterality, symmetry and systemicity are characteristic of this disease.

Other tests, such as laboratory tests, are normal, with occasional increases in AKP.

Spiral CT showed muscle atrophy, subcutaneous fat thinning and blurred or disappeared muscle spacing.

Diagnostic differential diagnosis of progressive dysplasia

diagnosis

Progressive dysplasia is a systemic disease in which the long bones of the extremities are thickened, the thickened bones and the ends of the bones are not affected by the main imaging findings of the disease, muscle atrophy, soreness, often family history and associated Or without the symptoms of cranial nerve compression as its clinical features, the combination of the two can be diagnosed, the long tubular cortical bone is irregularly thickened, the medullary cavity is double-cavous, and the cancellous bone of the chest, waist, atlas and tibia The trabecular thickening, these spiral CT signs need to be confirmed by more cases.

Differential diagnosis

(1) Infant cortical thickening

The same point is thickening of the backbone, multiple and symmetrical; the difference is early onset, accompanied by fever, thickening of the cortex and self-healing.

(2) Stone osteopathy

The general bone is dense, dry, and the epiphysis is obviously changed and the backbone is not thickened different from the disease.

(3) Multi- bone bone fiber dysplasia

Mainly involved in one side, asymmetry distribution, such as no pathological fracture, no new bone appears, when the disease involves the skull base caused by its thickening, it should pay more attention to the identification of this disease.

(4) Dense bone dysplasia

The same point is the increase of long bone density, cortical thickening, and thickening of the skull base; the difference is that the long tubular bone end of the disease is also affected, and the bone density is increased with the skull and hand bones and the pygmy and bone fragility increase.

In addition, it should be differentiated from sclerosing osteomyelitis and hypertrophic osteoarthrosis. The bilateral symmetry of the disease, the bone end is not involved, and the muscular dystrophy is the key point for identification.

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