What are the symptoms of osteopetrosis?

Many people don't know much about osteopetrosis, also known as marble bone or primary brittle bone sclerosis. Although the incidence of this disease is relatively low, once it occurs, the harm is particularly serious. It often leads to cartilage calcification and bone sclerosis. For more serious patients, it can cause medullary cavity closure and cause severe anemia. It may even cause hydrocephalus and lead to repeated infections.

Clinical manifestations

1. Osteoporosis can be divided into two types, namely juvenile type (also malignant type) and adult type (benign type). It is easy to have fractures, mostly in the bone shaft, and its healing

2. There is no delay in closing. Due to the narrowing of the bone marrow cavity, progressive anemia occurs, and the extramedullary hematopoietic organs may compensatorily enlarge. In severe cases of fluorine poisoning, patients will experience varying degrees of soreness in the trunk joints and limited mobility. Dental fluorosis is an easily visible sign.

3. Benign type: more common in adults, usually asymptomatic or with mild symptoms, often discovered due to spontaneous fractures or physical examinations. Occasionally, there is hepatosplenomegaly and hearing and visual impairment. Facial paralysis may occur when bone sclerosis and hyperplasia cause narrowing of the stylomastoid foramen. Anemia occurs in half of patients with the benign form.

4. Malignant type: mainly seen in infants and young children, characterized by progressive anemia, thrombocytopenia, hepatosplenomegaly, lymphadenopathy, hydrocephalus and spontaneous fractures. Due to skull base deformity, cranial nerve compression symptoms may occur, often with blindness. The patient's resistance to infection is reduced. The disease progresses rapidly and is often accompanied by early death due to severe anemia, hydrocephalus, and recurrent infections. A few survive into childhood. Children with this disorder suffer from growth retardation, intellectual and sexual developmental impairment, and are often accompanied by rickets, dental caries and osteomyelitis.

complication

Because the bone marrow cavity is filled with a large amount of calcified matrix, the hematopoietic tissue is significantly reduced, the extramedullary hematopoietic organs such as the liver, spleen, and lymph nodes are enlarged, and myeloid nonfunctional anemia occurs. Long-term anemia causes children to suffer from slow growth and poor nutrition.

Because calcium in the bones cannot be transported normally to the bone growth site, rickets are prone to occur in infancy and are easily caused by spontaneous fractures. CT signs of hydrocephalus, subdural effusion or ventricular dilatation occur due to the obstruction of cerebrospinal fluid return due to the sclerosis and hyperplasia of skull bones and the narrowing of the holes at the base of the skull.