Cases reported "Neurofibromatoses"

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1/7. Neurofibromatosis, gigantism, elephantiasis neuromatosa and recurrent massive subperiosteal hematoma: a new case report and review of 7 case reports from the literature.

    The authors report the case of a 13-year-old patient with neurofibromatosis (NF-I), who suffered blunt trauma to the left tibia in 1993. The diagnosis of subperiosteal hematoma was made. Treatment consisted of temporary rest. There was a recurrence in 1996, and the subperiosteal hematoma was drained. In 1997, a shortening osteotomy of the left tibia was performed. However, massive gigantism with elephantiasis of the left leg remained, causing a serious functional and cosmetic problem. In 1999, the leg was amputated above the knee. The literature is reviewed and 7 case reports are compared. The pathogenesis of subperiosteal hematoma is discussed.
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keywords = tibia
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2/7. Isolated congenital pseudoarthrosis of the fibula.

    Congenital pseudarthrosis of the limb most commonly involves the tibia, although various combinations of bones including fibula, radius, ulna, clavicle and humerus have all been described. Isolated congenital pseudarthrosis of the fibula is a very rare entity with only 12 cases reported in the English literature. We report three cases of this condition treated in our institution. The first child had a varus ankle deformity at the age of 4 months. The other two children presented with valgus ankle deformity after they started to walk. Two patients were treated conservatively while the third had a distal tibio-fibular fusion in view of severe valgus deformity. All three patients showed good early results after 1 to 2 years. We advocate early distal tibio-fibular fusion to prevent valgus deformity in these children.
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keywords = tibia
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3/7. MRI of peripheral nerve lesions of the lower limbs.

    Our aim is to illustrate the contribution of MRI to diagnosis of lesions of the lower-limb nerve trunks. We report six patients who had clinical and electrophysiological examination for a peroneal or tibial nerve palsy. MRI of the knee showed in three cases a nonenhancing cystic lesion of the peroneal nerve suggesting an intraneural ganglion cyst, confirmed by histological study in one case. One patient with known neurofibromatosis had an enhancing nodular lesion of the peroneal nerve compatible with a neurofibroma. Two patients had diffuse hypertrophy with high signal on T2-weighted images, without contrast enhancement of the sciatic nerve or its branches. These lesions were compatible with localised hypertrophic neuropathy. In one case, biopsy of the superficial branch of the peroneal nerve showed insignificant axonal degeneration. MRI can provide information about the size and site of the abnormal segment of a nerve before treatment and can be used to distinguish different patterns of focal lesion.
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keywords = tibia
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4/7. Malignancy risk in patient with neurofibromatosis and autosomal dominant polycystic kidney disease.

    Cancer appearance in some inherited diseases depends on the interactions with other genes. lung cancer is rare in neurofibromatosis and has not been reported in Caucasian population. In this paper, we present the case of lung adenocarcinoma in a patient with neurofibromatosis, pseudoarthrosis of tibia, and autosomal dominant polycystic kidney disease. cytogenetic analysis of the pleural effusion showed chaotic cleavage and constitutional inversion of chromosome 9, transmitted from the mother. family investigation revealed two autosomal dominant diseases, neurofibromatosis and polycystic kidney disease in the same family. These findings suggest that the second autosomal dominant disease in the family and inversion of chromosome 9 contributed to the severity of neurofibromatosis and patient's risk to malignancies.
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keywords = tibia
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5/7. bone morphogenetic protein 7 in the treatment of congenital pseudarthrosis of the tibia.

    We describe a 13-year-old boy with atrophic tibial pseudarthrosis associated with neurofibromatosis who had undergone nine unsuccessful operations. Eventually, union was obtained by the use of bone morphogenetic protein 7 in conjunction with intramedullary stabilisation and autologous bone graft.
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keywords = tibia
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6/7. Familial congenital pseudarthrosis of the ulna.

    A mother and daughter, both presented with congenital pseudarthrosis of the ulna due to neurofibromatosis. The daughter is one of identical twins, the second twin not having a pseudarthrosis. The mother's uncle also had pseudarthrosis of the tibia. This suggests a complex variable genetic inheritance pattern for pseudarthrosis in neurofibromatosis. Despite having had no treatment, the mother had minimal symptoms, minimal deformity, and no radial head dislocation.
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keywords = tibia
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7/7. Case report 828: Plexiform neurofibroma of the tibial nerve invading the medial and lateral gastrocnemius muscles and plantaris muscle.

    A 5-year-old boy presented with a several-year history of swelling of his calf and muscular weakness. MRI demonstrated abnormal signal and diffuse enlargement of the gastrocnemius muscle. Pathological examination revealed plexiform neurofibroma, and the diagnosis of neurofibromatosis was subsequently made. The manifestations of neurofibromatosis and the peripheral nerve sheath tumors encountered in this disease are discussed. Special attention is paid to the MR features of the plexiform neurofibroma which is characteristic of this disorder.
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keywords = tibia
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