Sanvito Wilson Luiz, Cataldo Berenice Oliveira V, Costa Agnaldo Rodrigues
Faculdade de Ciências Médicas, Santa Casa de São Paulo, Campinas, SP, Brasil.
Arq Neuropsiquiatr. 2003 Sep;61(3A):654-8. doi: 10.1590/s0004-282x2003000400024. Epub 2003 Sep 16.
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 sensitive-trophic 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.
报告了2例2型遗传性感觉和自主神经病。这种类型的神经病包含在一个由五个不同实体组成的组中。该神经病的系统化取决于多种标准，如发病年龄、遗传因素、临床表现、神经电生理和病理特征。在本报告中，我们描述了一个家庭中的病例，两个兄弟，分别为27岁和35岁，在我们科室就诊，存在痛觉缺失，继而出现肢体感觉-营养障碍和畸形。诊断为2型遗传性感觉和自主神经病，并考虑为常染色体隐性遗传模式。分析了发病年龄、遗传因素、临床表现和神经电生理特征。强调了与其他遗传性感觉神经病和获得性神经病的鉴别诊断。
