神经系统疾病的自由放养的巨嘴鸟(Ramphastos toco)的拉福拉病

Q4 Veterinary

Brazilian Journal of Veterinary Pathology Pub Date : 2023-01-01 DOI:10.24070/bjvp.1983-0246.v16i2p144-147

Clarissa Helena Santana, Ayisa Rodrigues Oliveira, Lucas dos Reis de Souza, Thaynara Parente de Carvalho, Fernanda Mara Aragão Macedo Pereira, Laice Alves da Silva, Samantha Pinheiro Pimentel, Daniel Oliveira dos Santos, Lauro Leite Soares-, Andressa Quinalia Courbilly, Jéssica Magalhães da Silva, Tatiane Alves da Paixão, Renato Lima Santos

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引用次数: 0

摘要

拉福拉病是一种遗传性疾病，与编码拉福拉素和malin的基因突变有关，导致细胞内多葡聚糖储存。本报告描述了一例拉福拉病在toco巨嘴鸟与发作的不协调和肌阵挛，导致创伤损伤和骨折的左后肢。这只鸟被安乐死并接受尸检。显微镜下，小脑神经元内可见丰富的pas阳性和抗转移的Lafora包涵体，支持Lafora病的诊断。

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Lafora’s disease in a free-ranging toco toucan (Ramphastos toco) with neurologic disease

Lafora’s disease is a genetic disease associated to mutations in genes that encodes laforin and malin, which results in intracellular polyglucan storage. The present report describes a case of Lafora’s disease in a toco toucan with episodes of incoordination and myoclonus that resulted in traumatic lesions and fracture of the left hindlimb. The bird was euthanized and submitted to necropsy. Microscopically there were abundant PAS-positive and diastasis-resistant Lafora’s inclusion bodies in neurons in the cerebellum, supporting the diagnosis of Lafora’s disease.

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来源期刊

Brazilian Journal of Veterinary Pathology Veterinary-Veterinary (miscellaneous)

CiteScore

0.60

自引率

0.00%

发文量

期刊介绍： The Brazilian Journal of Veterinary Pathology is the official electronic periodical of the Brazilian Association of Veterinary Pathology. The purpose of the BJVP is to publish original full papers, short communications, case reports, letters, reviews (by invited experts) and abstracts of scientific meetings. The preferable subjects is natural and experimental pathology. All the articles are submitted to scientific reviewers.