메뉴 건너뛰기




Volumn 3, Issue 2, 1998, Pages 125-132

Congenital insensitivity to pain with anhydrosis. Report of two unrelated cases

Author keywords

Anhydrosis; Insensitivity to pain; Peripheral nerve biopsy

Indexed keywords

ANHIDROSIS; ARTICLE; CASE REPORT; CHILD; CONGENITAL ANALGESIA; FAMILY STUDY; FEMALE; GENE MUTATION; HUMAN; HUMAN TISSUE; NERVE BIOPSY; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; SENSORY NEUROPATHY;

EID: 0031924937     PISSN: 10859489     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (5)

References (45)
  • 2
    • 0021738204 scopus 로고
    • Congenital sensory neuropathies. Diagnostic distinction from familial dysautonomia
    • Axelrod FB, Pearson J: Congenital sensory neuropathies. Diagnostic distinction from familial dysautonomia. Amer. J. Dis. Child. 1984; 138:947-954.
    • (1984) Amer. J. Dis. Child. , vol.138 , pp. 947-954
    • Axelrod, F.B.1    Pearson, J.2
  • 3
    • 0011864958 scopus 로고
    • Sensory neuropathies
    • Ouvrier RA, McLeod JG, Pollard JD (eds). New York: Raven Press
    • Ouvrier RA, McLeod JG, Pollard JD: Sensory neuropathies. In: Ouvrier RA, McLeod JG, Pollard JD (eds). Peripheral Neuropathy in Childhood. New York: Raven Press, 1990; pp. 127-138.
    • (1990) Peripheral Neuropathy in Childhood , pp. 127-138
    • Ouvrier, R.A.1    McLeod, J.G.2    Pollard, J.D.3
  • 4
    • 0027253468 scopus 로고
    • Hereditary sensory neuropathies
    • Thomas PK: Hereditary sensory neuropathies. Brain Pathol. 1993; 3:157-163.
    • (1993) Brain Pathol. , vol.3 , pp. 157-163
    • Thomas, P.K.1
  • 5
    • 0001768884 scopus 로고
    • Neuronal atrophy and degeneration predominantly affecting peripheral sensory neurons
    • Dyck PJ, Thomas PK, Lambert EH (eds). PhiladelphiaWB Saunders Co
    • Dyck PJ, Ohta M: Neuronal atrophy and degeneration predominantly affecting peripheral sensory neurons. In: Dyck PJ, Thomas PK, Lambert EH (eds). Peripheral Neuropathy. Philadelphia: WB Saunders Co, 1975; pp. 791-824.
    • (1975) Peripheral Neuropathy , pp. 791-824
    • Dyck, P.J.1    Ohta, M.2
  • 6
    • 0019175747 scopus 로고
    • Confirmation of virtual unmyelinated fiber absence in hereditary sensory neuropathy type IV
    • Goebel HH, Veit S, Dyck PJ: Confirmation of virtual unmyelinated fiber absence in hereditary sensory neuropathy type IV. J. Neuropathol. Exp. Neurol. 1980; 39: 670-675.
    • (1980) J. Neuropathol. Exp. Neurol. , vol.39 , pp. 670-675
    • Goebel, H.H.1    Veit, S.2    Dyck, P.J.3
  • 8
    • 0019452214 scopus 로고
    • Congenital insensitivity to pain with anhidrosis in a 2-month-old boy
    • Matsuo M, Kurokawa T, Goya N, Ohta M: Congenital insensitivity to pain with anhidrosis in a 2-month-old boy. Neurology 1981; 31:1190-1192.
    • (1981) Neurology , vol.31 , pp. 1190-1192
    • Matsuo, M.1    Kurokawa, T.2    Goya, N.3    Ohta, M.4
  • 9
    • 0022467631 scopus 로고
    • Congenital insensitivity to pain with anhidrosismorphological and morphometrical studies on the skin and peripheral nerves
    • Itoh Y, Yagishita S, Nakajima S, Nakano T: Congenital insensitivity to pain with anhidrosis: morphological and morphometrical studies on the skin and peripheral nerves. Neuropediatrics 1986; 17:103-110.
    • (1986) Neuropediatrics , vol.17 , pp. 103-110
    • Itoh, Y.1    Yagishita, S.2    Nakajima, S.3    Nakano, T.4
  • 10
    • 0002957643 scopus 로고
    • Congenital generalized indifference to pain (congenital analgia)
    • Gillespie JB, Perucca LG: Congenital generalized indifference to pain (congenital analgia). Amer. J. Dis. Child. 1960; 100:124-126.
    • (1960) Amer. J. Dis. Child. , vol.100 , pp. 124-126
    • Gillespie, J.B.1    Perucca, L.G.2
  • 11
    • 0002126731 scopus 로고
    • Congenital insensitivity to pain with anhydrosis
    • Swanson AG: Congenital insensitivity to pain with anhydrosis. Arch. Neurol. 1963; 8:299-306.
    • (1963) Arch. Neurol. , vol.8 , pp. 299-306
    • Swanson, A.G.1
  • 12
    • 33645234943 scopus 로고
    • Anatomic changes in congenital insensitivity to pain. Absence of small primary sensory neurons in ganglia, roots, and Lissauer's tract
    • Swanson AG, Buchan GC, Alvord EC: Anatomic changes in congenital insensitivity to pain. Absence of small primary sensory neurons in ganglia, roots, and Lissauer's tract. Arch. Neurol. 1965; 12:12-18.
    • (1965) Arch. Neurol. , vol.12 , pp. 12-18
    • Swanson, A.G.1    Buchan, G.C.2    Alvord, E.C.3
  • 13
    • 0013871566 scopus 로고
    • Congenital familial sensory neuropathy with anhidrosis
    • Pinsky L, Di George AM: Congenital familial sensory neuropathy with anhidrosis. J. Pediatr. 1966; 68:1-13.
    • (1966) J. Pediatr. , vol.68 , pp. 1-13
    • Pinsky, L.1    Di George, A.M.2
  • 14
    • 0013951540 scopus 로고
    • A syndrome of the neural crest
    • Brown JW, Podosin R: A syndrome of the neural crest. Arch. Neurol. 1966; 15:294-301.
    • (1966) Arch. Neurol. , vol.15 , pp. 294-301
    • Brown, J.W.1    Podosin, R.2
  • 16
    • 0017076155 scopus 로고
    • Congenital sensory neuropathy with anhidrosis. Orthopedic complications and management
    • Mazar A, Herold HZ, Vardy PA: Congenital sensory neuropathy with anhidrosis. Orthopedic complications and management. Clin. Orthop. Rel. Res. 1976; 118:184-187.
    • (1976) Clin. Orthop. Rel. Res. , vol.118 , pp. 184-187
    • Mazar, A.1    Herold, H.Z.2    Vardy, P.A.3
  • 17
    • 0017252393 scopus 로고
    • Congenital sensory neuropathy with anhidrosisa case report
    • Lee EL, Oh GC, Lam KL, Parameswaran N: Congenital sensory neuropathy with anhidrosis: a case report. Pediatrics 1976; 57:259-262.
    • (1976) Pediatrics , vol.57 , pp. 259-262
    • Lee, E.L.1    Oh, G.C.2    Lam, K.L.3    Parameswaran, N.4
  • 18
    • 0018654202 scopus 로고
    • Congenital insensitivity to pain with anhydrosis. Report of a family and review of literature with reference to immune deficiency
    • Vardy PA, Greenberg LW, Kachel C, Falewski de Leon G: Congenital insensitivity to pain with anhydrosis. Report of a family and review of literature with reference to immune deficiency. Amer. J. Dis. Child. 1979; 133:1153-1155.
    • (1979) Amer. J. Dis. Child. , vol.133 , pp. 1153-1155
    • Vardy, P.A.1    Greenberg, L.W.2    Kachel, C.3    Falewski De Leon, G.4
  • 19
    • 0028060265 scopus 로고
    • Congenital insensitivity to pain with anhidrosis (hereditary sensory and autonomic neuropathy type IV)
    • Rosemberg S, Marie SKN, Kliemann S: Congenital insensitivity to pain with anhidrosis (hereditary sensory and autonomic neuropathy type IV). Pediatr. Neurol. 1994; 11:50-56.
    • (1994) Pediatr. Neurol. , vol.11 , pp. 50-56
    • Rosemberg, S.1    Marie, S.K.N.2    Kliemann, S.3
  • 21
    • 33744835898 scopus 로고    scopus 로고
    • Decreased CSF levels of substance P in patients with congenital sensory neuropathy with anhidrosis
    • Nagamitsu S, Matsuishi T, Ohnishi A, Kato H: Decreased CSF levels of substance P in patients with congenital sensory neuropathy with anhidrosis. Neurology 1997; 48:1133.
    • (1997) Neurology , vol.48 , pp. 1133
    • Nagamitsu, S.1    Matsuishi, T.2    Ohnishi, A.3    Kato, H.4
  • 22
    • 0015013412 scopus 로고
    • Peripheral nerve abnormalities in the Riley-Day syndrome. Findings in a sural nerve biopsy
    • Aguayo AJ, Nair CPV, Bray GM: Peripheral nerve abnormalities in the Riley-Day syndrome. Findings in a sural nerve biopsy. Arch. Neurol. 1971; 24:106-116.
    • (1971) Arch. Neurol. , vol.24 , pp. 106-116
    • Aguayo, A.J.1    Nair, C.P.V.2    Bray, G.M.3
  • 24
    • 0018216601 scopus 로고
    • The number and sizes of reconstructed peripheral autonomic, sensory and motor neurons in a case of dysautonomia
    • Dyck PJ, Kawamura Y, Low PA, Shimono M, Solovy JS: The number and sizes of reconstructed peripheral autonomic, sensory and motor neurons in a case of dysautonomia. J. Neuropathol. Exp. Neurol. 1978; 37: 741-755.
    • (1978) J. Neuropathol. Exp. Neurol. , vol.37 , pp. 741-755
    • Dyck, P.J.1    Kawamura, Y.2    Low, P.A.3    Shimono, M.4    Solovy, J.S.5
  • 25
    • 0022648674 scopus 로고
    • Familial dysautonomia in a non-Jewish girl, with histological evidence of progression in the sural nerve
    • Guzzetta F, Tortorella G, Cardia E, Ferrière G: Familial dysautonomia in a non-Jewish girl, with histological evidence of progression in the sural nerve. Dev. Med. Child. Neurol. 1986; 28:62-68.
    • (1986) Dev. Med. Child. Neurol. , vol.28 , pp. 62-68
    • Guzzetta, F.1    Tortorella, G.2    Cardia, E.3    Ferrière, G.4
  • 26
    • 0017090321 scopus 로고
    • Hereditary sensory neuropathy and tonic pupils
    • Miller RG, Nielsen SL, Sumner AJ: Hereditary sensory neuropathy and tonic pupils. Neurology 1976; 26:931-935.
    • (1976) Neurology , vol.26 , pp. 931-935
    • Miller, R.G.1    Nielsen, S.L.2    Sumner, A.J.3
  • 27
    • 0015802627 scopus 로고
    • Hereditary sensory neuropathy, type II. Clinical, electrophysiologic, histologic, and biochemical studies of a Quebec Kinship
    • Ohta M, Ellefson RD, Lambert EH, Dyck PJ: Hereditary sensory neuropathy, type II. Clinical, electrophysiologic, histologic, and biochemical studies of a Quebec Kinship. Arch. Neurol. 1973; 29:23-37.
    • (1973) Arch. Neurol. , vol.29 , pp. 23-37
    • Ohta, M.1    Ellefson, R.D.2    Lambert, E.H.3    Dyck, P.J.4
  • 28
    • 0020354866 scopus 로고
    • The clinical spectrum and morphology of type II hereditary sensory neuropathy
    • Nukada H, Pollock M, Haas LF: The clinical spectrum and morphology of type II hereditary sensory neuropathy. Brain 1982; 105:647-665.
    • (1982) Brain , vol.105 , pp. 647-665
    • Nukada, H.1    Pollock, M.2    Haas, L.F.3
  • 29
    • 0015874907 scopus 로고
    • Congenital sensory neuropathy
    • Murray TJ: Congenital sensory neuropathy. Brain 1973; 96:387-394.
    • (1973) Brain , vol.96 , pp. 387-394
    • Murray, T.J.1
  • 31
    • 0018415065 scopus 로고
    • Clinical and ultrastructural study of a sporadic case of hereditary sensory neuropathy. Morphological evidence for a slow rate fiber degeneration
    • Ermel AE, Devooght H, Carton H: Clinical and ultrastructural study of a sporadic case of hereditary sensory neuropathy. Morphological evidence for a slow rate fiber degeneration. J. Neurol. 1979; 220:241-249.
    • (1979) J. Neurol. , vol.220 , pp. 241-249
    • Ermel, A.E.1    Devooght, H.2    Carton, H.3
  • 32
    • 0017135522 scopus 로고
    • Recessive hereditary sensory neuropathy
    • Jedrzejowska H, Milczarek H: Recessive hereditary sensory neuropathy. J. Neurol. Sci. 1976; 29:371-387.
    • (1976) J. Neurol. Sci. , vol.29 , pp. 371-387
    • Jedrzejowska, H.1    Milczarek, H.2
  • 34
    • 0017645150 scopus 로고
    • Congenital sensory neuropathy. Report of an atypical case
    • Person JR, Rogers RS, Rhodes KH: Congenital sensory neuropathy. Report of an atypical case. Arch. Dermatol. 1977; 113:954-957.
    • (1977) Arch. Dermatol. , vol.113 , pp. 954-957
    • Person, J.R.1    Rogers, R.S.2    Rhodes, K.H.3
  • 36
    • 0027240165 scopus 로고
    • Congenital sensory neuropathy in association with ichthyosis and anterior chamber cleavage syndrome
    • Quinlivan R, Robb S, Hughes RAC, Hall SM, Calver D: Congenital sensory neuropathy in association with ichthyosis and anterior chamber cleavage syndrome. Neuromusc. Disord. 1993; 3:217-221.
    • (1993) Neuromusc. Disord. , vol.3 , pp. 217-221
    • Quinlivan, R.1    Robb, S.2    Hughes, R.A.C.3    Hall, S.M.4    Calver, D.5
  • 37
    • 0023276007 scopus 로고
    • Hereditary sensory neuropathy with neurotrophic keratitis. Description of an autosomal recessive disorder with a selective reduction of small myelinated nerve fibres and a discussion of the classification of the hereditary sensory neuropathies
    • Donaghy M, Hakin RN, Bamford JM, Garner A, Kirkby GR, Noble BA, Tazir-Melboucy M, King RHM, Thomas PK: Hereditary sensory neuropathy with neurotrophic keratitis. Description of an autosomal recessive disorder with a selective reduction of small myelinated nerve fibres and a discussion of the classification of the hereditary sensory neuropathies. Brain 1987; 110:563-583.
    • (1987) Brain , vol.110 , pp. 563-583
    • Donaghy, M.1    Hakin, R.N.2    Bamford, J.M.3    Garner, A.4    Kirkby, G.R.5    Noble, B.A.6    Tazir-Melboucy, M.7    King, R.H.M.8    Thomas, P.K.9
  • 38
    • 0017929414 scopus 로고
    • Congenital sensory neuropathy with selective loss of small myelinated fibers
    • Low PA, Burke WJ, McLeod JG: Congenital sensory neuropathy with selective loss of small myelinated fibers. Ann. Neurol 1978; 3:179-182.
    • (1978) Ann. Neurol , vol.3 , pp. 179-182
    • Low, P.A.1    Burke, W.J.2    McLeod, J.G.3
  • 39
    • 0019839851 scopus 로고
    • A new type of non-progressive sensory neuropathy in children with atypical dysautonomia
    • Nordborg C, Conradi N, Sourander P, Westerberg B: A new type of non-progressive sensory neuropathy in children with atypical dysautonomia. Acta Neuropathol. (Berl) 1981; 55:135-141.
    • (1981) Acta Neuropathol. (Berl) , vol.55 , pp. 135-141
    • Nordborg, C.1    Conradi, N.2    Sourander, P.3    Westerberg, B.4
  • 40
    • 0020567705 scopus 로고
    • Congenital autonomic dysfunction with universal pain loss
    • Axelrod FB, Cash R, Pearson J: Congenital autonomic dysfunction with universal pain loss. J. Pediatr. 1982; 103:60-64.
    • (1982) J. Pediatr. , vol.103 , pp. 60-64
    • Axelrod, F.B.1    Cash, R.2    Pearson, J.3
  • 42
    • 0025317398 scopus 로고
    • Dominantly transmitted congenital indifference to pain
    • Landrieu P, Said G, Allaire C: Dominantly transmitted congenital indifference to pain. Ann. Neurol. 1990; 27: 574-578.
    • (1990) Ann. Neurol. , vol.27 , pp. 574-578
    • Landrieu, P.1    Said, G.2    Allaire, C.3
  • 43
    • 0029947048 scopus 로고    scopus 로고
    • Hereditary neuropathies in childrenthe contribution of the new genetics
    • Ouvrier RA: Hereditary neuropathies in children: the contribution of the new genetics. Sem. Pediatr. Neurol. 1996; 3:140-151.
    • (1996) Sem. Pediatr. Neurol. , vol.3 , pp. 140-151
    • Ouvrier, R.A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.