Hereditary Sensory Neuropathy, Type II

Ohta, Michiya; Ellefson, Ralph D.; Lambert, Edward H.; Dyck, Peter J.

doi:10.1001/archneur.1973.00490250041005

Cited by 95 publications

(5 citation statements)

References 13 publications

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“…and Low et a/. (1978) which d o notfit any of the four types of sensory neuropathy suggested byOhta et a/. (1973): however, the present classification does provide a framework for the investigation of these patients.Acknowledgemenrs: Our thanks to Dr. A. Q. M c C o r m i c k , P a e d i a t r i c O p t h a l m o l o g i s t , Department of Opthalmology, University of British Columbia, for his advice and for supplying the photograph reproduced a s Figure 4; t o D r .…”

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confidence: 52%

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Children with Reduced Sensitivity to Pain: Assessment of Hereditary Sensory Neuropathy Types II and IV

Verity¹,

Dunn²,

Berry³

1982

Develop Med Child Neuro

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SUMMARY Two patients with hereditary sensory neuropathy (HSN) are presented. Each exhibited unusual features. A girl with HSN type II had severe seizures, bilateral nerve deafness and a sensory neuropathic bladder. A boy with HSN type IV produced some sweat and had average verbal ability: after being given succinylcholine before tonsillectomy he was paralysed for five hours, and was shown to have abnormal cholinesterase activity. Sural nerve histology is reported in both cases: abnormal nerve biopsy findings have rarely been reported in HSN type IV. RÉSUMÉ Diminution de la sensibilitéà la douleur chez l'enfant: examen de sujets présentant une neuropathie sensorielle héréditaire des types II et IV L'article présente deux sujets atteints de neuropathie sensorielle héréditaire (HSN), tous deux manifestant des symptômes inhabituels. Une fille avec une HSN de type II a présenté des crises sévères, une surdité bilatérale de perception et une vessie neurologique sensorielle. Un garçon avec une HSN de type IV était capable d'une certaine sudation et avait une aptitude verbale moyenne: ayant reçu de la succinylcholine en vue d'une amygdalectomie. il fut paralysé cinq heures: à l'occasion, se révéla une activité cholinestérasique anormale. L'analyse biopsique du nerf sural est décrite dans les deux cas; les données d'une biopsie d'un nerf anormal ont été rarement rapportées dans une HSN de type IV. ZUSAMMENFASSUNG Kinder mit verminderter Schmerzempfindung; eine Beurteilung von Patienten mit heriditärer sensorischer Neuropathie vom Typ II and IV Es wird über zwei Patienten mit heriditärer sensorischer Neuropathie (HSN) berichtet, die beide ungewöhnliche Merkmale aufwiesen. Ein Mädchen mit HSN Typ II hatte schwere Krämpfe, beidseitige sensorische Taubheit und eine sensorische neuropathische Blase. Ein Junge mit HSN Typ IV hatte etwas Schweißproduktion und ein durchschnittliches Sprachvermögen; nachdem er vor einer Tonsilektomie Succinylcholin bekommen hatte, war er für fünf Stunden gelähmt und es wurde bei ihm eine abnorme Cholinesterase Aktivität nachgewiesen. In beiden Fällen wird über das histologische Ergebnis der Suralis Biopsie berichtet; abnorme Biopsiebefunde sind bei der HSN Typ IV selten beschrieben worden. RESUMEN Niños con reduccion de la sensibilidad al dolor: evaluación de pacientes con neuropatia sensttiva hereditaria de los tipos II y IV Se presentan dos casos con neuropatia sensitiva hereditaria (NSH) Cada uno de ellos exhibia caracteristicas no usuales. Una niña con una NSH del tipo II tenia convulsiones graves, sordera bilateral nerviosa y una vejiga neuropática sensitiva. Un muchacho con NSH del tipo IV producia cierta sudoración y tenia un buen promedio de habilidad verbal; después de recibir succinilcolina preamigdalectomia, quedó paralizado durante cinco horas, y se vió que tenia una actividad anormal de colinesterasa. En ambos casos se aporta la histologia del nervio sural. Hallazgos anormales en la biopsia de nervio periférico han sido publicados muy raramente en casos de NSH del tipo IV.

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confidence: 52%

“…Various types of reduced sensitivity to pain have been described, and in some individuals this is due to hereditary abnormality of sensory nerves. Ohta et at. (1973) divided hereditary sensory neuropathy into four types (Table I).…”

Section: Introductionmentioning

confidence: 99%

Children with Reduced Sensitivity to Pain: Assessment of Hereditary Sensory Neuropathy Types II and IV

Verity¹,

Dunn²,

Berry³

1982

Develop Med Child Neuro

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“…A NSAH-2 começa na infância, a modalidade de transmissão hereditária é do tipo autossômico recessivo, não costuma apresentar fenômenos disautonômicos, caracteriza-se pela presença de manifestações sensitivo-tróficas nos membros inferiores e superiores e não tem caráter evolutivo 10 . Este tipo de neuropatia já foi denominado, de modo equivocado de siringomielia da infância.…”

Section: Discussionunclassified

Neuropatia sensitiva e autonômica herditátia tipo II: a propósito de dois casos

Sanvito¹,

Cataldo²,

Costa³

2003

Arq. Neuro-Psiquiatr.

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RESUMO -Dois casos de neuropatia sensitiva e autonômica hereditária do tipo 2 são descritos. Este tipo de neuropatia faz parte de um grupo constituído por cinco entidades diferentes. A sistematização destas neuropatias depende de múltiplos critérios como idade de início, aspectos genéticos, manifestações clínicas, aspectos eletroneuromiográficos e patológicos. Neste relato descrevemos dois irmãos com 27 e 35 anos de idade que foram acompanhados em nosso Serviço, com quadro de insensibilidade à dor e conseqüentes deformidades de membros e distúrbios sensitivo-tróficos. Para estes pacientes foi definido o diagnóstico de neuropatia sensitiva e autonômica hereditária do tipo 2, com modalidade de transmissão hereditária autossômica recessiva. A idade de início do quadro, os aspectos hereditários, as manifestações clínicas e os aspectos eletroneuromiográficos são analisados. O diagnóstico diferencial com outras neuropatias sensitivas hereditárias e adquiridas é considerado.PALAVRAS-CHAVE: neuropatias sensitivas hereditárias, neuropatia autossômica recessiva, acropatia úlcero-mutilante. Hereditary sensory and autonomic neuropathy type 2: two cases reportABSTRACT -Two cases of hereditary sensory and autonomic neuropathy type 2 are reported. This type of neuropathy is included in a group that consists of five different entities. The systematization of that neuropathies depends on multiple criteria such as age of beginning, genetic aspects, clinical manifestations, eletroneuromyographic and pathologic features. In this report we describe the cases in a family, two brothers, 27 and 35 years old that were observed in our department with pain insensibility and consequent sensitivetrophic disturbs and deformity of members. The diagnoses was defined as hereditary sensory and autonomic neuropathy type 2 and an inherited pattern recessive autossomic transmission was considered. The age of beginning, the hereditary aspects, the clinical manifestations and the eletroneuromyographic features are analysed. The differential diagnoses with other sensory hereditary and acquired neuropathies is emphasized.

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“…dysfunctions associated with pathological abnormalities of peripheral nerves. The names that heve been used in the medical literature to describe this disorder provide an insight into its characteristics : "mal perforant du pied", "singular affection of os pied", "hereditary perforating ulcers", "painless whitlows", "hereditary sensory neuropathy", "progresive sensory neuropathy"and others ' . In 1973 and1975, according cases and type II is 7 cases2) 3).…”

Section: Casementioning

confidence: 99%