Cases reported "Bone Diseases, Metabolic"

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1/6. Severe osteopenia with recurrent fractures after bone marrow transplant for wiskott-aldrich syndrome: a case report.

    wiskott-aldrich syndrome (WAS) is a rare inherited disorder characterised by thrombocytopenia, eczema, and immunodeficiency. bone marrow transplantation (BMT) is a well-established modality of treatment now routinely used and often curative. We report the case of a boy who developed osteopenia and sustained multiple long-bone fractures over a 5-year period after bone marrow transplant for WAS. The femora and tibiae of both lower limbs were involved with a clinical presentation similar to osteogenesis imperfecta. After commencing calcitriol treatment at the age of 8 years, the patient has not sustained any further fractures. He is now 11 years old. Although short-term changes in bone metabolism after BMT have been documented, the occurrence of repeated fractures associated with osteopenia has not been previously reported.
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keywords = tibia
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2/6. A probable new type of osteopenic bone disease.

    A probable new type of osteopenic bone disease in two sisters and one female cousin is described. In infancy, the radiological findings were osteopenia, coxa vara, periosteal cloaking, bowing of the long bones, and flaring of the metaphyses. During growth, spinal pathology developed with compression of the vertebral bodies and scoliosis in one girl and kyphosis in another. All three children had genu valgum and two developed severe S-shaped bowing of the tibiae. growth was stunted. Inheritance of this disorder is probably recessive. Type I and III collagen biosynthesis was normal. This condition is probably a hitherto undescribed form of osteogenesis imperfecta type III or a new bone disease.
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ranking = 1
keywords = tibia
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3/6. Spontaneous fractures in the differential diagnosis of fractures in children.

    A four-year-old male with cerebral palsy and spasticity, as a result of a non-accidental head injury sustained when he was two years old, died of pneumonia. Postmortem full body x-rays revealed fractures of varying ages of the left humerus and both femora, tibiae, and fibulae. This led to a thorough investigation of the case by the Office of the Chief Medical Examiner. child abuse, accidents, metabolic bone disorders, other primary or secondary diseases of the bones, and pathological fractures were ruled out. The final diagnosis was spontaneous fractures secondary to osteopenia. The term spontaneous fractures is used to define fractures that occur without any known external cause, especially in cerebral palsy patients with spasticity.
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ranking = 1
keywords = tibia
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4/6. An apparently new syndrome of bowed tibiae, radial anomalies, osteopenia, multiple fractures and developmental delay.

    We report two siblings with bowed tibia, hypoplastic thumbs, multiple fractures, a distinctive facial phenotype and developmental delay. These children share some features with other cases reported in the literature but we consider that they represent a new syndrome.
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ranking = 5
keywords = tibia
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5/6. methotrexate osteopathy in long-term, low-dose methotrexate treatment for psoriasis and rheumatoid arthritis.

    BACKGROUND: In dermatology and rheumatology, methotrexate is frequently prescribed in low dosages per week; in oncology, high dosages per week are prescribed. methotrexate osteopathy was first reported in children with leukemia treated with high doses of methotrexate. In animal studies, low doses of methotrexate proved to have an adverse effect on bone metabolism, especially on osteoblast activity. OBSERVATIONS: methotrexate osteopathy is a relatively unknown complication of low-dose methotrexate treatment. We describe three patients treated with low-dose oral methotrexate in whom signs and symptoms were present that were similar to those found in children treated with high doses of methotrexate. All three patients had a triad of severe pain localized in the distal tibiae, osteoporosis, and compression fractures of the distal tibia, which could be identified with radiographs, technetium Tc 99m scanning, and magnetic resonance imaging. CONCLUSIONS: methotrexate osteopathy can occur in patients treated with low doses of methotrexate, even over a short period of time. As pain is localized in the distal tibia, it is easily misdiagnosed as psoriatic arthritis of the ankle, but the diagnosis can be correctly made by careful investigation and use of imaging techniques. The only therapy is withdrawal of methotrexate. It is important that more physicians become aware of this side effect of methotrexate therapy, which can occur along with arthritic symptoms.
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ranking = 3
keywords = tibia
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6/6. Bilateral radial ray hypoplasia with multiple epiphyseal dysplasia.

    We describe a 5-4/12-year-old girl with the unique combination of bilateral radial ray hypoplasia and multiple epiphyseal dysplasia (MED). Radial ray hypoplasia was diagnosed at birth. MED was documented at age 4-3/12 years when she presented with leg pain and short stature and was found to have femoral anteversion and tibial torsion giving rise to severe genu valgum deformity and intoeing. She has no facial anomalies and is developmentally normal. family history is unremarkable and chromosomal analysis was normal. Investigation of mineral metabolism showed idiopathic hypercalciuria. Surgical lengthening of her severely hypoplastic left radius at age 19 months was successful. Bilateral femoral and tibial osteotomies at age 5-4/12 years corrected her lower limb deformities. This combination of two distinctive but rare skeletal abnormalities may represent a new syndrome.
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ranking = 2
keywords = tibia
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