1/35. Posterior spinal instrumentation and fusion of a neuromuscular scoliosis in a patient with autosomal dominant osteopetrosis.STUDY DESIGN: A case report of a patient with autosomal dominant osteopetrosis and neuromuscular scoliosis who required surgical instrumentation and fusion of her spine. OBJECTIVE: To illustrate the surgical technique and long-term outcome in this rare form of spinal deformity. SUMMARY OF BACKGROUND DATA: osteopetrosis is a group of rare skeletal dysplasias characterized clinically by skeletal osteosclerosis that is classically described in appearance as "marble bone." Despite the ubiquitous involvement of the vertebra, clinical manifestations of spinal involvement are uncommon. We present the case of an osteopetrotic patient with neuromuscular scoliosis who required surgical correction of her progressive deformity. There are no prior reports in the literature concerning operative or nonoperative management of scoliosis in this patient population. methods: The surgical technique utilized as well as the patient's response to surgical management of her scoliosis is presented with 5 year follow-up. RESULTS: The patient underwent a successful T4 to L1 posterior spine fusion and instrumentation using Luque rods, sublaminar wires and allograft bone augmentation. At 5 years following her index procedure, she is clinically and radiographically fused. CONCLUSION: patients with osteopetrosis present unique surgical challenges during surgical correction of spinal deformities. The use of segmental sublaminar wires with 1/4-inch rods and crosslinks afforded stable fixation despite poor bone quality. Allograft bone combined with postoperative bracing resulted in a well-maintained correction and a solid fusion. Five year follow-up and continued radiographic evidence of stable fusion indicate that the presented approach can lead to a successful outcome in the osteopetrotic patient population.- - - - - - - - - - ranking = 1keywords = sclerosis (Clic here for more details about this article) |
2/35. 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 = 1keywords = sclerosis (Clic here for more details about this article) |
3/35. Free fibular flap reconstruction in mandibular osteopetrosis.Extensive involvement of the mandible with sclerosis secondary to the rare genetic disorder, osteopetrosis, is a difficult reconstructive problem. It is typically refractory to conservative management or local surgical methods because of vascular compromise of the bone. For this reason, total resection of all involved bone with microvascular graft reconstruction is an ideal method for mandibular reconstruction in osteopetrosis that has not been previously reported.- - - - - - - - - - ranking = 1keywords = sclerosis (Clic here for more details about this article) |
4/35. Apparent cure of a newborn with malignant osteopetrosis using prednisone therapy.A newborn girl with hemorrhagic purpura, suspected neonatal sepsis, and pale and dry skin was lethargic with remarkable hepatosplenomegaly, convergent strabismus, severe anemia, and elevated alkaline phosphatase activity. Radiographs showed a generalized increase in bone density, small medullary cavities, sclerosis of the skull and vertebrae, transverse wavy stripes of sclerotic bone in the metaphyses, and bone-in-bone appearance in phalanges of hands and feet. On this basis, she was diagnosed with malignant infantile osteopetrosis. On the first day of life, the infant was given a blood transfusion and vitamin k (1 mg intravenously [iv]). Corticosteroid therapy was started with prednisone (2 mg/kg per day). She showed marked improvement of symptoms. On the 26th day and 42nd day of life, she received additional blood transfusions. On the 49th day, the patient was discharged and corticosteroid therapy was continued at a regimen of 5 mg/day. Subsequent blood sample analyses revealed normal values for age. At 1 year of life, a bone marrow sample showed normal white and red cell lineages. X-ray confirmed attenuation of the bone sclerosis; therefore, bone marrow transplantation (BMT) was not implemented. At the age of 1.5 years, prednisone therapy was discontinued gradually and withdrawn before the age of 2 years. Subsequent follow-up showed normalization of all radiological and hematologic parameters. At present, the patient is 3 years old and appears healthy with apparently complete regression of the disease.- - - - - - - - - - ranking = 2keywords = sclerosis (Clic here for more details about this article) |
5/35. Type II autosomal dominant osteopetrosis.Two principal types of osteopetrosis have been distinguished. One is the dominantly inherited, relatively benign condition which is often detected radiologically in asymptomatic adults. A second type is the recessive, lethal, malignant form. Autosomal dominant osteopetrosis (ADO) has two distinct radiological subtypes known as types I and II. We report here a 23-year-old patient with ADO type II. Radiographic investigations of a skeletal survey showed generalised osteosclerosis with thickened cortex. magnetic resonance imaging (MRI) scan disclosed osteosclerosis in superior and inferior portions of the vertebral bodies which produced a 'sandwich' appearance. The 'bone-within-bone' appearance was seen in the ileum of the patient. The vertebral bone density was found markedly elevated. The carbonic anhydrase ii level was found to be normal. We discuss here the genetic etiology of this disorder.- - - - - - - - - - ranking = 2keywords = sclerosis (Clic here for more details about this article) |
6/35. 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 = 1keywords = sclerosis (Clic here for more details about this article) |
7/35. Type II benign osteopetrosis (Albers-Schonberg disease) caused by a novel mutation in CLCN7 presenting with unusual clinical manifestations.A 16-year-old male patient with type II autosomal dominant benign osteopetrosis (ADO) was genotyped and found to harbor a novel mutation in exon 25 of the gene encoding for the osteoclast-specific chloride channel, CLCN7, inherited from the father, who was asymptomatic. The patient had normal biochemical findings and acid-base balance, except for increased serum levels of creatine kinase, lactic dehydrogenase, and the bone formation markers bone alkaline phosphatase isoenzyme, osteocalcin and N-terminal type I collagen telopeptide/creatinine ratio. Unusual generalized osteosclerosis was observed together with a canonical increase in vertebral and pelvis bone mass. An affected first grade cousin presented with normal biochemical findings and a milder osteosclerotic pattern of the pelvis. At the cellular level, cultured osteoclasts from the patient showed increased motility, with lamellipodia, membrane ruffling and motile pattern of podosome distribution, all of which could have contributed to functional impairment of bone resorption. The present report documents a novel mutation of the CLCN7 gene causing osteopetrosis in a radiologically uncertain form of the diseases, with apparent incomplete penetrance.- - - - - - - - - - ranking = 1keywords = sclerosis (Clic here for more details about this article) |
8/35. osteopetrosis of temporal bone with blockage of the eustachian tube. A case report.osteopetrosis is an inherited disorder characterized by bone sclerosis. One of the more predominant feature of the disease in the temporal bone is conductive hearing loss due to anomalous bone formation in the middle ear and to otitis media. A 55-year-old woman affected by the adult type of osteopetrosis was referred to our department with a long history of otitis media. CT study demonstrated a narrowing of eustachian tube due to abnormal deposition of sclerotic bone; this condition was confirmed during surgery. Tubotomy was performed during tympanoplastic surgery and there were no relapse of otitis after 12 months of follow up. Timpanoplastic surgery should be considered in those cases where medical treatment has failed in dealing with otitis media. In our experience an enlargement of eustachian tube shuld be performed in this kind of patients, thus helping the functional recovery and the potential well-being of the patient as we observed in our case.- - - - - - - - - - ranking = 1keywords = sclerosis (Clic here for more details about this article) |
9/35. Surgical correction of craniosynostosis in malignant osteopetrosis.In osteopetrosis, bone healing is complicated by progressive sclerosis. A 2-year-old blind boy with malignant osteopetrosis developed increased intracranial pressure secondary to craniosynostosis. osteopetrosis had already been treated with bone marrow transplantation (BMT), and bone remodeling seemed to be restored. A craniotomy was performed. The postoperative course and bone healing were uneventful. After successful BMT, craniofacial procedures seem to be possible without a high risk for osteomyelitis.- - - - - - - - - - ranking = 1keywords = sclerosis (Clic here for more details about this article) |
10/35. 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.- - - - - - - - - - ranking = 1keywords = sclerosis (Clic here for more details about this article) |
| | Next -> |