Osteopetrosis Symptoms

Osteopetrosis can be divided into two types include child-type (malignant type) and adult-type (positive type). Prone to fracture, and more at the backbone, the healing is not delayed. Narrowing due to bone marrow cavity, to cause anemia, extramedullary hematopoiesis may be compensatory increase organ. Fluorosis were significantly different when the degree of emphasis on the trunk joint pain, activity limitation. Dental fluorosis is easy to see signs.

Symptoms of Benign Osteopetrosis and Malignant Osteopetrosis include:

Benign type: more common in adults, is usually asymptomatic or mild symptoms, often due to spontaneous fractures or physical examination was found. Occasional hepatosplenomegaly and audio-visual barriers. When osteosclerosis hole breast hyperplasia caused by narrowing of the stem, the facial paralysis can occur. Half of anemia in patients with benign type.

Malignant type: mainly in infants and young children, Osteopetrosis symptoms include progressive anemia, thrombocytopenia, hepatosplenomegaly, lymphadenopathy, spontaneous fracture and hydrocephalus. Skull deformities can occur as a result of cranial nerve compression symptoms, often blindness. Patients with reduced resistance to infection. Disease progress rapidly, often due to severe anemia, repeated infection with hydrocephalus and early death and other reasons. Few survive to childhood. Children with growth retardation, stunted intellectual and sexual, often accompanied by fat, rickets, dental caries and osteomyelitis.

Autosomal recessive malignant osteopetrosis (MOP) in infants and young children during the disease progress rapidly, the high mortality rate and less viable. Also known as infantile malignant osteopetrosis (infantile malignant osteopetro ˉ sis). Children as a result of cortical hyperplasia, calcification of the bone marrow cavity, hematopoietic tissue reduction, increased extramedullary hematopoiesis, liver, spleen and marrow compensatory increase of non-functional anemia. Anemia caused by long-term infant growth retardation, in vivo calcium metabolism in normal, prone to rickets. Anemia caused by neutropenia, thrombocytopenia, resulting in the majority of children with a few months after birth to 1-year-old due to infection and (or) bleeding death. Biochemical tests: serum calcium, phosphorus, alkaline phosphatase normal, elevated acid phosphatase, 1,25 - (OH) 2 Vit D 3 significantly increased in children with rickets have low blood calcium.

Autosomal recessive inheritance of intermediate osteopetrosis (IROP) usually around 10-year-old accidentally diagnosed fractures, short stature, often the history of repeated fractures can be associated with mandibular osteomyelitis.

carbonic anhydrase deficiency syndrome is a kind of disease is autosomal recessive hereditary syndrome, characterized by osteosclerosis recent merger of medium, medium or far composite tubular acidosis.

Autosomal dominant osteopetrosis (ADOP) is more common in adults, the incidence later in stable condition, the prognosis is better, also known as benign osteopetrosis. This type of osteopetrosis nearly half of patients without symptoms, 1 / 4 patients with low back pain can occur. There can be the performance of nerve compression. Anemia hepatosplenomegaly rare, often coxa vara, femoral deformities such partial lateral arch.