Osteolithiasis

Introduction Stone osteopathy is also known as marble bone, primary fragile bone sclerosis, sclerosing proliferative bone disease and chalk-like bone. It is a rare bone development disorder. It was first discovered by Albers-Schonberg (1904), also known as Albers-schonberg disease. The disease is characterized by the persistence of calcified cartilage, causing extensive bone sclerosis, and the severe case is related to the closure of the medullary cavity, causing severe anemia. The disease is often familial, and the vast majority of cases are recessive. The cause of the osteopetrosis is not clear, and may be related to abnormal bone resorption, resulting in excessive deposition of calcium salts in the bone, the appearance of marble or ivory, increased fragility.

Cause

(1) Causes of the disease

The cause of the osteopetrosis is not clear, and may be related to abnormal bone resorption, resulting in excessive deposition of calcium salts in the bone, the appearance of marble or ivory, increased fragility. The disease has a family history and is more common among children who are married to close relatives. Some people think it is a hereditary disease. The disease is divided into two types, light type is dominant inheritance, and heavy type is recessive inheritance.

(two) pathogenesis

Caffey believes that the basic pathological change of osteopetrosis is that during the formation of endochondral bone, the calcified cartilage matrix is poorly absorbed and maintained, resulting in shrinking or even occlusion of the bone marrow cavity, forming hardened and brittle bone, and increasing cortical bone. Thick and dense, the cancellous trabecular bone is also thickened, so that there is no obvious boundary between the cortical bone and the cancellous bone. Under the microscope, osteoclast abnormalities were seen, and irregular edges were lost, indicating that they were not active. In the skull, the skull base is mainly involved, and in severe cases, the skull cap can also be widely involved.

an examination

Related inspection

X-ray lipiodol angiography

Clinical manifestation

1. Light type: Also known as benign type, more common in adolescents and adults, the prognosis is better. Patients may have varying degrees of anemia and cranial nerve compression symptoms or no obvious symptoms in the early stage, and are often found in X-ray examinations after adulthood. There may be an increase in blood acid phosphatase.

2. Heavy: Also known as malignant, common in infants and young children. The patient has early onset, rapid progress, and many blood sources, and the nervous system and blood system are often involved. It is characterized by anemia, hemorrhage, and enlarged liver and spleen. This is caused by hematopoietic disorders caused by systemic bone marrow cavage reduction or occlusion. The nervous system manifests as cerebral edema, decreased vision or blindness, nystagmus, giant head disease, strabismus, facial paralysis, deafness, hydrocephalus, intracranial hemorrhage, mental retardation, epilepsy and trigeminal nerve damage, optic atrophy. With regard to visual impairment and optic atrophy, it is often explained by optic nerve stenosis resulting in compression of the optic nerve. Some people think that it is the primary optic nerve demyelination, secondary to retinal vein compression, optic disc edema and optic atrophy or primary intracranial pressure and hydrocephalus.

diagnosis

Severe osteopetrosis is easy to diagnose, and mild patients sometimes have difficulty in diagnosis. The diagnosis depends on radiology and family history. For patients with optic atrophy, clear optic canal tomography or coronary plus sagittal CT scan can clearly show the location and extent of the lesion. The diagnosis of osteopetrosis is based on:

1. often in childhood, developmental delay, due to skull sclerosis and hydrocephalus and chronic stress symptoms, such as facial nerve paralysis, hearing loss, optic atrophy, etc., the skull is hard and brittle, prone to fractures, fractures often transverse, fracture It is difficult to heal afterwards, and cutting the skull with a knife during surgery is like cutting a chalk.

2. Patients may have anemia, liver, spleen and lymph nodes due to hematopoietic disorders, and serum acid phosphatase is elevated.

3. The same lesions exist in the metaphysis of other parts of the body.

4. X-ray skull flat: It shows that the skull is abnormally dense and thick, and the inner and outer plates and the plate are integrated, which is difficult to distinguish. The skull is highly calcified, the density is significantly increased, the cranial fossa becomes shallow, the pituitary fossa becomes smaller, the frontal sinus shrinks, and the saddle back hyperplasia.

Differential diagnosis

The diagnosis should be differentiated from the following symptoms:

(1) Dense bone development disorder: The child is short, the skull bone is enlarged, the frontal occipital bone is prominent, the intercostal bone is common, the distal phalanx is underdeveloped, the long bone density is increased but the bone marrow cavity is present, and the child has no anemia.

(2) Incomplete development of the skull dryness: the skull is progressively enlarged and thickened, and the bone is not brittle. It is only after 5 years of age.

(3) Skull bone dysplasia: mainly manifested as "lion face" hyperplasia, no bone destruction in other parts, poor bone shape, widening of clavicle and ribs.

(4) Neonatal osteosclerosis: usually disappears within 1 month.

(5) Myelofibrosis complicated by anemia or leukemia: sometimes it is difficult to distinguish it from marble bone disease, only by blood test and bone marrow puncture.

(6) skeletal fluorosis: Because skeletal fluorosis involves the head, it can also be manifested as thickening of the skull, increased density, especially in the skull base can be significantly hardened. However, skeletal fluorosis is caused by chronic fluorosis. The patient has a history of long-term exposure to fluoride or a long-term drinking water containing more than the allowable amount of fluoride and a history of treatment of myeloma and osteoporosis with fluoride. The skeletal fluorosis is not as uniform and dense as the osteopetrosis. At the same time, the skeletal fluorosis is mainly in the trunk, but the limbs are weakened, the bone ridges are thickened and the mesh is changed, and the ligament calcification and interosseous calcification are not seen in the late stage. The above characteristics of osteopetrosis. Fluoride bone urine test fluoride up to 8mg / L or more.

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