A 42-year-old Brazilian man was admitted to the hospital due to wasting syndrome, fever of unknown origin (FUO), hyporexia, asthenia, and night sweats. The patient reported worsening of his condition during the last month to the point of becoming bedridden. He also reported edema up to his knees, skin peeling, and severe, bilateral lower extremity weakness.
One year before admission, the patient started presenting pain in his lower limbs that worsened during physical activities. Five months later, he started complaining of paresthesia and burning sensations from his knees to his feet. He reported no chronic conditions or significant past medical history and denied the use of any medications, drugs, alcohol, or tobacco. The family reported that his mother and brother were diagnosed with leprosy one year before the patient's presentation.
The physical exam revealed weight loss of approximately 25 kg (55.11 lbs.) in five months, hepatosplenomegaly and lymphadenopathy confirmed with ultrasound, hypoesthesia to touch, and painful stimuli. Additional physical findings included the presence of bilaterally thickened neural trunks, inability to fully flex the fingers, and dactylitis. During the neurological exam, normal reflexes, motor coordination, and cranial nerve reactions were observed. The visual inspection yielded diffuse skin infiltration all over the body (especially on the face, hands, feet, and ears) and the presence of small lepromas on the posterior thighs and legs.
The laboratory exams revealed microcytic and hypochromic anemia ( Table 1 ) and a normal pattern for serum protein electrophoresis (SPEP). Testing for HIV, T-Spot.TB, syphilis (VDRL), and hepatitis B and C were negative. The cerebral spinal fluid (CSF) analysis was normal ( Table 2 ). The chest computed tomography (CT) was normal, and the abdomen CT revealed hepatosplenomegaly.
Electroneuromyography showed an asymmetrical sensory and motor axonal neuropathy with focal slowing of conduction velocity and severe impairment of ulnar nerves in the elbow segment and tibial nerves in the ankle. Ultrasonography of peripheral nerves displayed echographic findings suggestive of hypertrophic neuropathy of the ulnar, median, left peroneal, and tibial nerves (more evident at pre-tunnel levels) in addition to signs of intraneural hyperemia in the left ulnar nerve at the pre-tunnel level and mild thickening of the right peroneal nerve.
A bone marrow biopsy (Figures 1, 2 ) revealed the presence of M. leprae forming globi. The ELISA anti-phenolic glycolipid I (PGL-I) IgM antibodies and M. leprae DNA were positive, with index 2.38 (normal values: <1 - negative). The slit skin smear Bacilloscopy Index (BI) mean was 4.16 ( Table 3 ).
To detect M. leprae DNA, were used a real-time quantitative polymerase chain reaction (qPCR) primer/probe assay, described elsewhere, to target the M. leprae species-specific genomic element of dispersed repeats (RLEP) (ABI 7300 realtime PCR system; Applied Biosystems). The slit skin smear DNA M. leprae qPCR was positive Ct = 19 (normal values <= 35) with 3.8x108 copies/mL. The skin biopsy showed whole bacilli with BI equal to 6.0 and Ct = 21 (normal values <= 35) with 2.1x109 copies/gram. The diagnosis of lepromatous leprosy was made. The treatment was started with a supervised monthly dose of rifampin (600 mg), ofloxacin (400 mg), and minocycline (100 mg), and an unsupervised daily dose of ofloxacin (400 mg) and minocycline (100 mg). This treatment was chosen to avoid the use of dapsone, due to the possibility of drug-induced anemia worsening the patient's condition.
During the first months of treatment, the patient gained weight, his nutritional status improved, and he was able to perform independent activities of daily living again. He has been followed up monthly by a multi-professional team at our outpatient clinic with good adherence to the proposed treatment.