GP54 Sleeping sickness: congenital case associated with a possible sexual transmission

Abstract

Human African trypanosomiasis (HAT), also known as sleeping sickness, is caused by protozoan parasites transmitted by the bite of a tsetse fly. It is characterized by an early stage, during which trypanosomes circulate in the blood or lymphatics, and a late stage, in which there is involvement of the central nervous system. In a globalised world, some cases are also diagnosed outside endemic African countries, thus HAT should be considered in differential diagnosis for travellers, tourists and migrants. The authors report a rare case of a 19-year-old Afro-Brazilian boy, born in the USA, who was diagnosed with a congenital infection by Trypanosoma brucei gambiense at 16 months of age after returning to Portugal. Neither the patient nor his mother had ever been to Africa. He was admitted in our Paediatric Department for investigation of a wasting syndrome, lymphadenopathies and intermittent fever. An initial evaluation showed anaemia, hypergammaglobulinemia and a positive serology for cytomegalovirus infection. A month later the wasting syndrome had become worse and daytime somnolence was identified. At this point, the diagnosis of HAT was established in his mother, motivating specific diagnostic procedures in the child. Trypanosomes were detected in his blood and a CATT (Card Agglutination Test for Trypanosomes) was positive. A lumbar puncture established the diagnosis of late stage HAT. Electroencephalogram and brain MRI showed extensive brain damage. Fundoscopic examination revealed spots of an atypical chorioretinitis, possibly in association with the combined trypanosomal and cytomegalovirus infection. Treatment was established with intravenous eflornithine (DFMO). The drug was well tolerated, resulting in a gradual clinical improvement, including the complete regression of the brain and retinal changes. Two years after DFMO administration parasitological cure was confirmed according to established criteria. At the moment, the patient remains well, and show a normal psychomotor development. The absence of suggestive epidemiological data in our patient and his mother made it difficult to establish the correct diagnosis. The correct diagnosis of our patient’s condition was possible only after the etiology of his mother’s disease was correctly established in our hospital. Given the available epidemiological data, transmission of HAT between our patient’s parents must have occurred during sexual intercourse and is the first description of a case of probable sexual transmission of the disease. In our case, since neither the mother nor her son had ever been to Africa, the congenital transmission of HAT is indisputable.