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Background  Cystic echinococcosis (CE), caused by the larval stage of the complex  Echinococcus granulosus  sensu lato (s.l.), is a zoonotic parasitic disease with a high social burden in China.  E. ortleppi  is a species (formerly genotype 5 of  E. granulosus  s.l.) with unique epidemic areas (tropical areas), transmission patterns (mainly cattle origin), and pathological characteristics (large and small hook lengths) compared to other species that cause CE. A 19-year-old female patient in an area with no history of echinococcosis in Guizhou Province, China, was diagnosed with  E. ortleppi  infection in 2019. This study is to understand the source of this human  E.   ortleppi  infection.    Methods  We performed computer tomography (CT) scans, surgical operation, morphological sectioning, molecular diagnosis, phylogenetic analyses, and epidemiological investigation in Anshun City, Guizhou Province, China in 2019.    Results  The patient presented with intermittent distension and pain in the upper abdomen without other abnormal symptoms. Routine blood examination results were normal. However, abdominal CT revealed a fertile cyst with a diameter of approximately 8 cm, uniform density, and a clear boundary, but without an evident cyst wall in the right lobe of the liver. The cyst was fertile, and phylogenetic analyses revealed that the isolates represented a new  E. ortleppi  genus haplotype. A result of 10‒14 years incubation period with indigenous infection was considered available for the case through the epidemiological survey.    Conclusions  CE due to  E. ortleppi  infection can be confused with other diseases causing liver cysts, resulting in misdiagnosis. A transmission chain of  E. ortleppi  may exist or existed in the past in the previously considered non-endemic areas of echinococcosis in southwestern China.    Graphic abstractSupplementary Information  The online version contains supplementary material available at 10.1186/s40249-021-00907-3.

The pathology, phylogeny, and epidemiology of Echinococcus ortleppi (G5 genotype): a new case report of echinococcosis in China