Culture-Negative Endocarditis and Cerebral Demyelination: A Challenging Case of Whipple's Disease

Whipple's disease is a rare condition that, when not recognized and properly treated, can be fatal. A 49-year-old female presented with a five-month history of diarrhoea with watery stools seven times per day, nocturnal abdominal pain, asthenia, and a weight loss of 30% of her body mass in three months. The patient had a four-year medical history of bilateral mechanic gonalgia, arthralgia of the metacarpophalangeal and interphalangeal joints, and anaemia. The examination was remarkable for hyperpigmentation, along with a body mass index (BMI) of 15.8 kg/m². The diagnosis of Whipple's disease was made with upper gastrointestinal endoscopy, with typical histologic findings and a positive PCR for Tropheryma whipplei. Investigations also revealed cerebral demyelination and endocarditis in three valves. Treatment with intravenous ceftriaxone for four weeks and oral cotrimoxazole for one year resulted in complete resolution of the symptoms and endocarditis. This case report shows uncommon features of the disease and debates the challenging decisions toward diagnosis and effective treatment.