Doença de depósito lisossomal adquirida em caprinos no estado de Mato Grosso

Abstract

Lysosomal storage diseases (LSD) occur secondary to substrate accumulation of macromolecules in lysosomes, due to a failure in the cellular digestive process, leading to impaired function. The condition can be either inherited or acquired. The inherited form is derived from a genetic defect, generally linked to some lysosomal hydrolase dysfunction, while the acquired form originates from the consumption of some substance, usually present in toxic plants that inhibits a hydrolase. In both cases, the accumulation of undigested material results in cytoplasmic vacuolations, mainly of neuronal cells. This predilection results in the neurological clinical picture, characterized by tremors of limbs, head and neck, hypermetria, dysmetria, difficulty in keeping in station and decubitus. Macroscopic changes are not common, however, microscopically, it is possible to visualize such vacuoles, mainly in Purkinje neurons in the granular layer of the cerebellum. Electron microscopy assists in the observation of more specific cell defects, and, to identify the accumulated substrate lectin histochemistry can be used. In cases of acquired LSD, improvement of the condition and regression of clinical signs is possible when access to the toxic plant is restricted and consumption is interrupted. A seasonal neurological disorder has been reported to occur in goats from a property, approximately 5 years ago. The clinical signs were similar to those seen in LSD and historically a clinical improvement was reported after the animals were removed from the pasture, which was degraded with abundant invasive plants. The aim of this study is to report the occurrence of acquired LSD in goats on a farm in Mato Grosso.