共查询到20条相似文献,搜索用时 0 毫秒
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Two infants with sporadic congenital sensory neuropathy are described. The criteria of generalized lack of superficial sensory appreciation, hypotonia, areflexia, together with histological evidence of abnormalities of sensory neural structures in skin and peripheral nerves have been met. No abnormality of motor or autonomic nerves was shown. 相似文献
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Congenital sensory neuropathy? 总被引:1,自引:0,他引:1
P F Bray 《American journal of diseases of children (1960)》1970,120(6):583-584
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M Pagès M Voisin B Echenne A M Pagés R Dumas R Jean 《Archives fran?aises de pédiatrie》1983,40(7):557-560
A 9 year-old girl with congenital hypomyelination neuropathy is reported. Clinical features were delayed motor development, disturbances of gait, deep sensory defect, areflexia and mild distal palsy with claw feet. E.M.G. revealed dramatically diminished motor conduction velocities. C.S.F. protein was normal. Histological examination of the right sural nerve revealed a severe loss of myelinated fibers. On electron microscopy, poorly myelinated and large amyelinated axons were enclosed by normal Schwann cells and surrounded by multiple single or double layered basement membranes which were concentrically arranged in an onion bulb pattern. This case of congenital hypomyelination neuropathy is compared with ten similar cases in the literature. 相似文献
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Congenital sensory neuropathy in siblings 总被引:4,自引:0,他引:4
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Congenital familial sensory neuropathy with anhidrosis 总被引:4,自引:0,他引:4
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Two new cases of congenital sensory neuropathy (CSN) type IV in brothers aged 10 and 5 years are reported. Features included diffuse lack of response to pain without loss of response to touch, temperature and proprioceptive stimuli. No other neurologic anomalies were found. Both patients had complete anhidrosis. Joint destruction, which was the result of the failure to react to painful stimuli, was the most prominent feature. Nerve biopsy specimens exhibited marked reductions in numbers of amyelinic fibers with normal numbers of myelinic fibers. These two cases of CSN type IV are discussed in the light of previously reported cases and the new classification of congenital sensory neuropathies is reviewed. 相似文献
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Mastroyianni SD Garoufi A Voudris K Skardoutsou A Stefanidis CJ Katsarou E Gooding R Kalaydjieva L 《European journal of pediatrics》2007,166(7):747-749
Congenital cataracts-facial dysmorphism-neuropathy syndrome (CCFDN, MIM: 604168), is a recently delineated neurogenetic disease
causing recurrent episodes of rhabdomyolysis; prevention and early diagnosis of rhabdomyolysis should be part of the clinical
management of the disease. 相似文献
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Ricardo Drut 《Fetal and pediatric pathology》1986,6(4):403-409
Using immunoperoxidase PAP technique in 2 cases of congenital fibrosarcoma, a great number of cells showed positive stain for alpha-l-antitrypsin (A1AT) and alpha-l-antichymotrypsin (A1ACT), both considered to be good histiocytic markers. The ultrastructure in 1 case also provides evidence of histiocytic differentiation. These findings suggest that congenital fibrosarcomas are actually congenital fibrous histiocytomas and may explain the presence of inflammatory infiltrates as in some malignant fibrous histiocytomas. 相似文献
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