How to do with progressive diaphyseal dysplasia?

summary

Progressive diaphyseal hypoplasia, also known as Engelmann's disease, diaphyseal sclerosis. It is characterized by symmetrical fusiform enlargement and sclerosis of the long bone shaft. The average age of onset was 19.2 years old, ranging from March to 57 years old. The affected long bones were tibia, femur, fibula, humerus, ulna and radius, hand and foot, and skull was the most common site.

How to do with progressive diaphyseal dysplasia?

The main manifestations of this disease are delayed teething, late and unstable walking, and special rocking gait. With the progress of the disease, leg pain and headache appeared and gradually aggravated. Thickening of the long shaft can be palpable. The patient is prone to fatigue, emaciation, withering and malnutrition. The head is enlarged and the forehead protrudes. Due to the proliferation and sclerosis of the skull base bone plate, it can compress the cranial nerve, resulting in eye atrophy, deafness and other symptoms. Due to the decrease of bone marrow cavity and hematopoietic dysfunction, compensatory enlargement of liver and spleen occurs.

Progressive diaphyseal dysplasia is a systemic disease. The main imaging manifestations of the disease are thickening of the long tubular bone cortex, thickening of the diaphysis and non involvement of the bone ends. Muscle atrophy, soreness, family history and cranial nerve compression are the clinical features of the disease, which can be diagnosed by combining the two. The long tubular bone cortex was irregularly thickened, the medullary cavity showed double cavity changes, and the trabeculae of cancellous bone of thoracic, lumbar, sacral and iliac bone were thickened. These spiral CT signs need to be confirmed by more cases.

The etiology of this disease is unknown. At present, it is considered as congenital dysplasia. Studies show that this disease may be autosomal dominant genetic disease. Most patients have multiple patients with the same disease in their families.

matters needing attention

1、 Prevention: because the etiology of the disease is unknown, and more suspected to be a genetic disease, so there is no effective preventive measures. 2、 First aid (relief measures): no special treatment, some people think that hormone can reduce symptoms. 3、 Note: the prognosis of this disease is generally good. In severe cases, headache, hearing loss, olfactory loss, eye atrophy and facial paralysis may occur due to increased intracranial pressure and cranial nerve compression. The disease does not affect the growth and life process.