"Mycobacterium tilburgii" is a nontuberculous mycobacterium that cannot be cultured by current techniques. It is described as causing disseminated disease in adults. We present the first cases of disseminated disease in 2 immunocompromised children. This paper stresses the importance of molecular techniques for correct mycobacterial identification and guidance to immunological diagnosis.
CASE REPORTSCase A was a 3.5-year-old boy of nonconsanguineous Dutch parents with an unremarkable medical history. He was admitted to the hospital with complaints of fatigue, chronic cough, 4 kg of weight loss, and an intermittent elevated temperature (ranging from 37.5 to 38.8°C) occurring over several weeks. Two courses of treatment with antibiotics (erythromycin and amoxicillin-clavulanate) had been given by a general physician, but his clinical condition did not improve. He had been vaccinated in accordance with the Dutch Vaccination Program and did not receive Mycobacterium bovis bacillus Calmette-Guérin (BCG). He had not traveled abroad, and there were no documented tuberculosis contacts.At physical examination, a slightly dyspnoeic boy was seen. His weight was 18.6 kg (73rd percentile), and his height was 105.6 cm (63rd percentile). Breathing frequency was 24/min, and retractions were noted in his supraclavicular and flank regions. On auscultation, pulmonary sounds were almost absent in the left posterobasal region. There was generalized lymphadenopathy, especially in the cervical and axillar regions. One lymph node (1.5 by 1.0 cm) in the right supraclavicular region was palpable. Liver and spleen were enlarged (liver, 2 cm; spleen, 4 cm below costal margin).Blood analysis showed leucocytosis of 40 ϫ 10 9 /liter, with 18% eosinophils, 45% neutrophils, 23% lymphocytes, and 4% monocytes. A chest radiograph showed a retrocardial atelectasis and a pronounced right hilar region.Based on this clinical description, the differential diagnosis included mycobacterial disease and malignancy (lymphoma). A tuberculin skin test (TST) initially showed an induration of 14 mm after 24 h but was read as 4 mm after 48 h. A gamma interferon release assay (IGRA; Quantiferon Gold In-Tube, Cellestis GmbH, Darmstadt, Germany) had an indeterminate result. A histological examination of the supraclavicular lymph node showed a mixed cellular infiltrate without the presence of granuloma or giant cells. Auramine staining revealed multiple positive rods. PCR for M. tuberculosis targeting IS6110 was negative. Malignancy was excluded; a bone marrow biopsy specimen showed no abnormalities. In the period before cultures were grown, antituberculosis therapy was started with administration of isoniazid, rifampin, pyrazinamide, and ethambutol, resulting in clinical improvement within 2 weeks.Two months after the start of therapy, the boy presented with generalized exanthema suggestive of an allergic reaction. Mycobacterial cultures of the lymph node tissue were still negative. Because an infection by nontuberculous mycobacteria (NTM) was suspected, therapy wa...