Whipple's disease: a fatal mimic

Whipple's Disease, a rare diagnosis caused by the slow-growing bacterium Tropheryma whipplei, most often presents with the classically described signs of malabsorption due to gastrointestinal colonization. However, it can also have signs and symptoms that clinically overlap with rheumatic diseases, potentially resulting in misdiagnosis. Furthermore, treatment with modern potent biologic immunosuppressive agents and classic disease modifying anti-rheumatic drugs (DMARDs) can lead to serious exacerbation of undiagnosed infections. We present the case of a middle-aged woman with long term complaints of arthalgias, who was diagnosed with seronegative rheumatoid arthritis and subsequently treated for almost 7 years with such immunosuppressive therapies. The patient's disease course included chronic diarrhea that abruptly intensified and culminated in fatal hypovolemic shock/sepsis. A diagnosis of WD was made by autopsy examination, wherein several organ systems were found to be heavily involved by Tropheryma whipplei organisms, and their identification was confirmed with histochemical and molecular evaluation. Notably, most bacterial organisms were located deeply in the submucosa/muscularis of affected organs, a practical reminder to practicing pathologists that challenges the classic histopathologic description of Whipple disease as an infiltration of predominantly lamina propria, and the potential for sampling bias in typically superficial endoscopic biopsies during routine procedures.

Micetoma actinomicótico por Actinomadura madurae / Actinomycotic mycetoma due to Actinomadura madurae

Mycetoma is a chronic, granulomatous, subcutaneous, inflammatory lesion caused by true fungi (eumycetoma) or filamentous bacteria (actinomycetoma). Mycetoma commonly affects young people between 20 and 40 years old. The most common affected site is the foot. The characteristic clinical triad is tumefaction, draining sinuses and discharging grains. We report a healthy 31-year-old male, with a 6-year history of a progressive inflammatory tumor associated with sinus tracts and granules on his left sole. Actinomycetoma was suspected. The clinical diagnosis was confirmed by microbiological and histopathological study. Polymerase chain reaction and DNA sequencing identified Actinomadura madurae. To our knowledge, this is the second case of mycetoma reported in Chile. Our report emphasizes the need to consider this diagnosis in patients with chronic granulomatous disease associated with sinus tracts, fistulas and grains.

El micetoma es una lesión subcutánea inflamatoria granulomatosa crónica causada por hongos (eumiceto-ma) o bacterias filamentosas (actinomicetoma). Afecta a adultos entre los 20-40 años y el sitio más comúnmente afectado es el pie. La tríada característica es un aumento de volumen del tejido afectado, con trayectos sinuosos y gránulos excretados. Comunicamos el caso de un hombre de 31 años, sano, con una historia de 6 años de un tumor asociado a trayectos sinuosos y gránulos en la región plantar izquierda. El diagnóstico clínico de micetoma fue confirmado mediante estudio microbiológico e histológico. La amplificación y secuenciación del AlDN bacteriano identificó Actinomadura madurae. Es el segundo caso de actinomicetoma reportado en Chile. Consideramos importante considerar este diagnóstico en pacientes con enfermedad granulomatosa crónica asociado a trayectos sinuosos, fístulas y gránulos.

Bacteremia due to Rhodococcus equi in an immunocompetent infant.

Rhodococcus equi , previously known as Corynebacterium equi, is one of the most important causes of zoonotic infection in grazing animals. Increased cases of human infection with R. equi have been reported especially in immunocompromised patients. Infection in immunocompetent patients is extremely rare. We report a case of R. equi bacteremia in a 26-day-old immunocompetent infant with recurrent swellings on different parts of the body. To the best of our knowledge, this is the first ever report of R. equi bacteremia from an immunocompetent patient from Northern India.

Doença de Whipple / Whipple's disease

Os autores apresentam uma revisão sobre a doença de Whipple, uma rara enfermidade causada pelo bacilo Gram-positivo Tropheryma whipplei, que cursa, principalmente, com manifestações gastrintestinais - entre as quais síndrome de má absorção -, musculoesqueléticas, com artralgia, envolvimento do sistema nervoso central e febre baixa, podendo ser fatal se não tratada. O diagnóstico é confirmado pela biópsia do duodeno ou de outros órgãos envolvidos e(ou) pela detecção do agente pela utilização da reação de polimerase em cadeia (PCR). A terapia consiste em antibioticoterapia, devendo ser buscada a confirmação da cura com nova biópsia.