منابع مشابه
Osteopetrosis, Hypophosphatemia, and Phosphaturia in a Young Man: A Case Presentation and Differential Diagnosis
We report the case of a 30-year-old African-American male with osteopetrosis and hypophosphatemia, presenting with diffuse myalgias. Laboratory evaluation performed revealed a low serum phosphorus level with urinary phosphate wasting, low calcium, and 25-hydroxyvitamin D concentrations, as well as elevated alkaline phosphatase. Skull and pelvic radiographs revealed high bone density consistent ...
متن کاملOsteopetrosis Presenting with Neonatal Thrombocytopenia: A Case Report
Background: Osteopetrosisis an inherited and rare bone disease, characterized by the impairment ofbone modeling and remodeling and the failure of osteoclasts to resorb bone. It also results in skeletal fragility despite increased bone mass, and may cause hematopoietic insufficiency, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. The infantile form of the disease is...
متن کاملA Case Report of Malignant Infantile Osteopetrosis
BACKGROUND Malignant infantile osteopetrosis (MIOP) presents early in life with extreme sclerosis of the skeleton and reduction of bone marrow spaces. Since there is a defect in the bone marrow, the disease can cause anemia, extramedullary hematopoiesis secondary to anemia leading to hepatosplenomegaly, cranial nerves compression and severe growth failure. This disorder is often lethal within t...
متن کاملOsteopetrosis Complicated by Maxillary Osteomyelitis: A Case Report
Introduction: Maxillary osteomyelitis is a rare phenomenon. If it occurs, evaluation for underlying disease especially osteopetrosis must be considered. Osteomyelitis occurs as a complication in 10% of the cases of osteopetrosis. Case report: This is a case report of maxillary osteomyelitis presented in a 15-year old boy with osteopetrosis. In this case, the disease represented mainly with ...
متن کاملBloom’s syndrome: A case presentation
Bloom’s syndrome (BS) is a rare, autosomal recessive disease characterized by short stature, erythematous skin lesions with photosensitivity, hypo- and hyperpigmentation and recurrent bacterial infections due to immune deficiency. We report a 13-year old girl with erythema and telangiectasia in butterfly distribution on face, photosensitivity, multiple café au lait spots on trunk and extremitie...
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ژورنال
عنوان ژورنال: Okayama Igakkai Zasshi (Journal of Okayama Medical Association)
سال: 1973
ISSN: 0030-1558,1882-4528
DOI: 10.4044/joma1947.85.11-12_593