Perosomus Elumbis In Piglets: Pathological, Radiological And Cytogenetic Findings

Simple SummaryPerosomus elumbis (PE) is a rare congenital condition characterized by malformations localized mainly at the lumbo-sacral column. PE is reported in the literature as a description of single or very few cases. Although some authors have suggested a possible genetic etiology, the cause of PE has been poorly investigated. Here we report the first extensive pathological, radiological and cytogenetical description of eight cases of PE detected in two consecutive births of a Casertana pig sow, bred in an extensive farm located in Campania region, southern Italy. In this study, we also performed an epidemiological investigation to assess the rate of piglets born dead and malformations in the farm. The gross and radiological examination showed a broad range of malformations, such as skeletal and visceral abnormalities, but cytogenetic investigation did not show chromosome alterations. Finally, the retrospective data from the farm showed a low frequency of malformations in newborn pigs in the year of PE cases observation. These findings, taken together, suggest a specific genetic etiological basis as cause of PE in pigs but exclude chromosomal abnormalities.Perosomus elumbis (PE) is a rare congenital condition characterized by agenesis of the lumbar, sacral and coccygeal vertebrae. Perosomus elumbis has rarely been reported in literature as morphological description of singles or few cases. Here we report the first extensive description of eight cases of PE detected in two consecutive litters from the same parents of Casertana pig breed. In August 2018, eight piglets were investigated for multiple malformations. All malformed animals, but one, died in the first day of life. The survivor piglet died at 23 days of age. Pathological, radiological and cytogenetic examination was performed. Furthermore, a farm epidemiological investigation was carried out to investigate the percentage of piglets born dead or with malformations in 2018. The radiological and pathological exams showed skeletal abnormalities at the spinal cord level and visceral malformations. Cytogenetic investigations showed a normal chromosome arrangement. Finally, epidemiological investigation revealed a low prevalence of malformations in newborn pigs, equal to 0.5% of the total birth rate of the farm. Our findings report the first extensive description of PE cases in pigs and suggest an underestimation of this malformation in veterinary medicine. Our findings also suggest a specific genetic etiological basis as cause of PE in pigs and exclude chromosomal abnormalities. Further studies will be performed to confirm this hypothesis.