Multifocal tuberculosis: a phenotype of Mendelian susceptibility to mycobacterial disease

A just over 1-year-old girl presented with a history of multifocal tuberculosis. The patient was born at full-term in Madagascar. She was not BCG vaccinated. At 8 months old, she had measles complicated by pneumonia, with a persistent cough treated with prolonged high-dose oral corticosteroids. At 12 months old, pulmonary, cutaneous and otitic tuberculosis was diagnosed in Madagascar. Testing was positive for non-drug-resistant Mycobacterium tuberculosis in sputum (PCR) and otorrhoea (PCR, culture). Quadruple anti-tuberculosis antibiotherapy was initiated, but adherence to treatment was poor.

On evaluation at our centre 2 months after initiation of treatment, we noted progression of the multifocal tuberculosis …

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