1/55. Complete visual recovery in osteopetrosis by early optic nerve decompression.Visual loss with optic atrophy is common in osteopetrosis. The efficacy of optic nerve decompression in patients with osteopetrosis is still controversial. The purpose of this study is to report that visual deterioration in osteopetrosis can be completely reversed by early optic nerve decompression. An 8-year-old female patient with osteopetrosis was found to have reduced visual acuity on routine ophthalmologic examination. Extensive optic nerve decompression was performed. It not only included unroofing the optic canal, but also drilling away bone on both sidewalls of the optic nerve. Both optic nerves were decompressed during the same surgical procedure. Progressive loss of vision associated with osteopetrosis can be prevented by optic nerve decompression in the early stage of visual deterioration. When managing patients with osteopetrosis, the importance of careful and regular assessment of visual function should be stressed.- - - - - - - - - - ranking = 1keywords = compression (Clic here for more details about this article) |
2/55. 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.- - - - - - - - - - ranking = 2.1457267093916keywords = fracture (Clic here for more details about this article) |
3/55. 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.- - - - - - - - - - ranking = 4.2914534187831keywords = fracture (Clic here for more details about this article) |
4/55. 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.- - - - - - - - - - ranking = 2.1457267093916keywords = fracture (Clic here for more details about this article) |
5/55. 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.- - - - - - - - - - ranking = 10.728633546958keywords = fracture (Clic here for more details about this article) |
6/55. osteopetrosis associated with familial paraplegia: report of a family.A clinical analysis of three members of a family with documented osteopetrosis and familial paraplegia is presented. All patients had a long history of increased bone density and slowly progressing paraparesis of both legs. A thorough review of the literature has revealed no other cases which presented with paraplegia without spinal cord compression. Although the etiologic factor or factors remain unknown, our review supports the contention that this is a distinct clinical entity.- - - - - - - - - - ranking = 0.125keywords = compression (Clic here for more details about this article) |
7/55. 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.- - - - - - - - - - ranking = 10.728633546958keywords = fracture (Clic here for more details about this article) |
8/55. 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.- - - - - - - - - - ranking = 4.4164534187831keywords = fracture, compression (Clic here for more details about this article) |
9/55. 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.- - - - - - - - - - ranking = 21.457267093916keywords = fracture (Clic here for more details about this article) |
10/55. 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.- - - - - - - - - - ranking = 15.020086965741keywords = fracture (Clic here for more details about this article) |
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