Osteopetrosis, also known as marble bone disease or Albers-Schönberg disease, is a rare congenital bone developmental disorder. Its main characteristics include brittle and hard bones throughout the body, increased bone density, narrowing or even disappearance of the bone marrow cavity, and a higher susceptibility to fractures. The exact cause of this disease remains unknown, but it is likely an autosomal hereditary disorder, often showing familial occurrence. Clinically, it is divided into two types: the benign dominant hereditary type (adult type) and the malignant recessive hereditary type (infantile progressive type). The former has a good prognosis with long-term survival, while the latter has a poor prognosis, often leading to early death due to progressive anemia, infections, and other complications.

bubble_chart Clinical Manifestations

1. Adult type Mostly seen in adults, with late onset and slow progression, usually asymptomatic, often discovered during X-ray examinations for fractures or other reasons, or during postmortem autopsies.
2. Infantile progressive type Onset occurs during infancy or fetal period, with severe conditions and rapid progression, often leading to early death. Main clinical manifestations include: (1) Skeletal system changes: X-rays show generalized, symmetrical increase in bone density, thickened and dense bone cortex, narrowed or obliterated medullary cavity, indistinct bone structure, presenting a marble-like appearance. Some cases may exhibit pathological multiple fractures. Changes in the skull and ribs may manifest as square skull, large anterior fontanelle, and rachitic rosary. (2) Hematological changes: Most cases present with moderate to grade III anemia, either normocytic normochromic or microcytic hypochromic anemia. Due to extramedullary hematopoiesis, hepatosplenomegaly and generalized lymphadenopathy are common, with particularly prominent splenomegaly. Blood smears may reveal teardrop-shaped red cells, ovalocytes, polychromatic or stippled red cells, and nucleated red blood cells. Reticulocyte count may increase, leukocyte count is often elevated, and immature granulocytes at various stages may be observed. Platelet count is frequently reduced. Bone marrow aspiration is often unsuccessful or yields a "dry tap." (3) Neurological changes: Due to osteosclerotic hyperplasia of the skull, foramina at the skull base become narrowed, potentially affecting cerebrospinal fluid and venous circulation, leading to hydrocephalus. Compression of cranial nerves may result in optic atrophy, hearing impairment, facial nerve palsy, etc. (4) Other manifestations: Poor growth and development, prone to infections.

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bubble_chart Auxiliary Examination

In addition to the above changes in blood picture, serum calcium, phosphorus, and alkaline phosphatase are usually normal.

bubble_chart Treatment Measures

﹝Treatment﹞

There is no specific treatment available, and generally only symptomatic treatment is provided. (1) Control infection, improve nutrition, and provide blood transfusion for severe anemia. (2) The use of adrenal corticosteroids may have some therapeutic effect. (3) Splenectomy may improve anemia in cases with significant splenomegaly and severe anemia. (4) Bone marrow transplantation may be effective.

bubble_chart Differentiation

Infants and young children presenting with severe anemia, hepatosplenomegaly (especially marked splenomegaly), and unsuccessful bone marrow aspiration should be considered for this disease. Skeletal X-ray examination is diagnostic. Before X-ray examination, differentiation should be made from Jaksch's syndrome, Langerhans cell histiocytosis, chronic leukemia, and myelofibrosis. After obtaining X-ray results, further differentiation is required from infantile idiopathic hypercalcemia, vitamin D intoxication, systemic osteopetrosis, and pycnodysostosis.