Cases reported "Osteopetrosis"

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1/39. Middle cerebral arterial occlusion in a child with osteopetrosis major.

    osteopetrosis major (infantile autosomal recessive type) usually presents with pathological fractures, bone marrow failure and some neurological deficits due to remodelling defect of the bone and narrowed bonny channel of the blood supply. Herein we present a case of osteopetrosis major with neurological deficits not attributed to the narrowed carotid channel of the petrous bone, but due to middle cerebral arterial occlusion 2 cm distal to narrowed channel.
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2/39. Pyknodysostosis--a report of two cases with a brief review of the literature.

    Pyknodysostosis is a rare sclerosing bone disorder that has an autosomal dominant trait. It is characterized by short stature, brachycephaly, short and stubby fingers, open cranial sutures and fontanelle, and diffuse osteosclerosis, where multiple fractures of long bones and osteomyelitis of the jaw are frequent complications. We present a report of two cases of pyknodysostosis with evidence of long bone fractures and chronic suppurative osteomyelitis of the jaws in one of the cases. Some of the specific oral and radiological findings that are consistent with pyknodysostosis are reported, along with a brief review of the literature.
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3/39. osteopetrosis, renal tubular acidosis without urinary concentration abnormality, cerebral calcification and severe mental retardation in three Turkish brothers.

    Deficiency of carbonic anhydrase ii (CA II) isoenzyme produces metabolic disorders of bone, kidney and brain. In this report we describe the clinical, radiological, pathological and genetic findings in three brothers who were affected with the autosomal recessive syndrome of osteopetrosis, renal tubular acidosis (RTA) and cerebral calcification. The RTA was hybrid type, but urinary concentration ability was intact. Additional features were severe mental retardation, stunted growth, microcephaly, dental malocclusion, high-arched palate, and broad thumbs. Previous reported patients with this syndrome were predominantly from the middle east and mediterranean region. This is the first report with CA II deficiency from the Turkish population. The presence of mental retardation and relative infrequency of skeletal fractures in our patients resembles the clinical course of patients with the Arabic mutation of the CA II gene, but this mutation was not found in our patients.
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4/39. Multiple fractures in a 3-month-old infant with severe infantile osteopetrosis.

    A diagnosis of severe infantile, autosomal recessive osteopetrosis (I-ARO) was made in a 3-month-old female based on characteristic radiological and histological findings. The finding of multiple fractures at presentation in this infant is highly unusual. Deficiency of carbonic-anhydrase type II was excluded.
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5/39. osteopetrosis, femoral fracture, and chronic osteomyelitis caused by staphylococcus aureus small colony variants (SCV) treated by girdlestone resection--6-year follow-up.

    Chronic osteomyelitis caused by staphylococcus aureus small colony variants in combination with osteopetrosis is a unique combination of disorders that confronted us with major challenges. The therapeutic approach included four serial debridements and antimicrobial therapy. The aggressive treatment led to an instability of the brittle and hard osteopetrotic bone, and after 11 weeks, a fracture of the femoral neck occurred. A salvage procedure of the femur was performed, and the cultures obtained during this intervention remained negative. At a 6-year follow-up, the girdlestone situation still showed an acceptable functional outcome without any recurrence of osteomyelitis.
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keywords = fracture
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6/39. Malignant infantile osteopetrosis initially presenting with neonatal hypocalcemia: case report.

    Autosomal recessive "malignant" osteopetrosis is a rare congenital disorder relating to bone resorption abnormalities. It is believed to arise due to the failure of osteoclasts to resorb immature bone. This leads to abnormal bone marrow cavity formation and, clinically, to the signs and symptoms of bone marrow failure. Impaired bone remodeling associated with dysregulated activity of osteoclasts for such a condition may typically result in bony narrowing of the cranial nerve foramina, which typically results in cranial nerve (especially optic nerve) compression. Abnormal remodeling of primary woven bone to lamellar bone results in "brittle" bone that is prone to fracture. Thus, fractures, visual impairment, and bone marrow failure are the classical features of this disease. We describe the case of a 23-day-old boy in whom neonatal hypocalcemia was present initially after birth. Malignant infantile osteopetrosis (MIO) was diagnosed for the patient at 4 months of age based on evidence of anemia, thrombocytopenia, leukoerythroblastosis, sclerotic bone, hepatosplenomegaly, and visual deficit from a bony encroachment by the cranial nerve foramina. Although only occasionally reported previously, MIO remains essentially unrecognized by clinicians as a cause of neonatal hypocalcemia, which often results in diagnostic confusion and delay. This is important in the context of curative hemopoietic stem cell transplantation where preservation of sight may depend upon early intervention.
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7/39. pycnodysostosis presenting with bilateral subtrachanteric fractures: case report.

    A 50-year-old woman had bilateral subtrochanteric fractures over a period of 9 months; both fractures were found to be in osteosclerotic femora. The patient was multiparous with 5 normal children. Since subtrochanteric fractures represent only 5 per cent of all femoral neck fractures the occurrence of bilateral subtrochanteric fractures in a relatively young woman suggested an unsuspected underlying disease. Clinical and laboratory investigations showed no evidence of systemic, metabolic, infective or malignant disease. The patient's short stature, peculiar facies in association with osteosclerosis in medullated long bones and typical radiographic findings: hypoplastic claviculae, absent ungual tufts of distal phalanges, hypoplastic paranasal sinuses, and obtuse mandibular angles suggested the proposed diagnosis of pycnodysostosis, a rare autosomal recessive osteosclerotic condition, that has been described in less than 50 cases, including only one Jew. Despite 2 technically difficult surgical hip operations, a 3-year follow-up showed good remedullarization of both fractured femora and no limitation in the patient's daily activities.
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keywords = fracture
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8/39. Bilateral asynchronous humeral shaft fractures in a patient with autosomal dominant osteopetrosis type II (Albers-Schonberg disease).

    osteopetrosis is a rare metabolic disease which presents with fragile osteosclerotic bone. A thirteen-year-old girl with an underlying autosomal dominant osteopetrosis (ADO) type II who sustained a left oblique humeral shaft fracture after trivial trauma is presented. Radiographic results showed many characteristic features of osteopetrosis, including incomplete remodeling of a previous fracture of the contralateral humeral shaft. The authors obtained good healing and alignment of the left humeral shaft fracture by sugar tong slab.
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keywords = fracture
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9/39. Severe malignant osteopetrosis caused by a GL gene mutation.

    Infantile malignant autosomal recessive osteopetrosis is a genetically heterogeneous disease caused by the inability of OCLs to resorb and remodel bone, resulting in generalized osteosclerosis and obliteration of marrow spaces and cranial foramina. The classical clinical features are pathological fractures, visual impairment, and bone marrow failure. Two human genes have been described as the cause of this form of osteopetrosis: the T-cell immune-regulator-1 (TCIRG1) gene, which is mutated in >50% of the patients, and the chloride channel 7 (ClCN7) gene, which accounts for approximately 10% of cases. We report the clinical, radiographic, and histopathologic findings of the first human osteopetrosis case caused by a mutation in the grey-lethal (GL) gene. The patient, a 9-day-old male infant, presented with a very severe osteopetrotic phenotype including substantial hepatosplenomegaly since birth, cytopenia, and progressive major liver failure. Skeletal radiographs revealed a generalized increase in bone density with loss of corticomedullary differentiation. Histopathologic bone examination showed the typical osteopetrotic changes, with absence of resorptive activity, and osteoclasts, slightly decreased in number, with evident morphological alterations.
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10/39. Case report 746: osteopetrosis.

    osteoporosis is a disorder characterized by osteoclastic dysfunction. The bones of afflicted patients become sclerotic and show modeling defects resulting in either a decrease or obliteration of the marrow cavity and resultant pancytopenia. Other clinical manifestations include bony deformities, cranial nerve palsies from bony overgrowth, pathological fractures, osteomyelitis, and hepatosplenomegaly secondary to extramedullary hematopoiesis. In the skull, the diploic space is usually decreased or obliterated. Absent or decreased marrow space is observed on plain films. On MRI, the marrow cavity very likely will be obliterated with low signal intensity on T1- and T2-weighted images. We report a case of osteopetrosis in which the diploic space is markedly increased, giving a hair-on-end appearance resembling thalassemia major. Perhaps some local factor within the diploic space prevented the expected osteoclastic dysfunction, allowing remodeling and expansion of the cranial vault.
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