A 7-month-old girl presented with a prolonged period of chronic diarrhea. On admission she showed profound abnormalities in both cell-mediated and humoral immunities and severe combined immunodeficiency was diagnosed. Laboratory values were as follows: immunoglobulin (IgG), 173 mg/dL (normal range, 500-1300 mg/dL); IgM, 31 mg/dl (normal range, 50-199 mg/dL); IgA, 29 mg/dL (normal range, 23-190 ml/dL); T2/ T4/ T8 /B cell /Natural Killer (NK) cell, 4% / 4% / 0% / 2% / 90%.
At the age of 10 months she was readmitted due to left axillary and cervical lymphadenopathy; several courses of antibiotic treatment had failed to change the course of her illness. There was no family history of tuberculosis, but she had been vaccinated with BCG at the age of one month. A specimen for culture was obtained from the axillary lymph node, but bacteriological culture was negative. Numerous acid-fast bacilli were demonstrated on smears, and cultures revealed growth of Mycobacterium bovis, BCG strain. She was treated with isoniazid (15 mg/kg per day), rifampicin (15 mg/kg per day), and pyrazinamide (20 mg/kg per day). In spite of antituberculous therapy, her lymphadenopathy worsened.
At the age of 16 months, she was readmitted with persistent lymphadenopathy in the left axilla and cervical area, and reddish swelling of the right third finger. A chest radiograph revealed no abnormality of lung parenchyma or hilar lymphadenopathy, but a round osteolytic lesion was incidentally detected in the right distal humerus. A plain radiograph of both lower extremities revealed multiple, round, osteolytic lesions in the femora, tibiae, and fibulas (Fig. 1A). Both tibiae showed extensive periosteal thickening along the entire diaphyses. Ultrasound examination of the abdomen showed enlarged lymph nodes containing an eccentric hypoechoic portion at the porta hepatis and hypoechoic nodules in the spleen (Figs. 1B,C). Contrast-enhanced CT scanning demonstrated the presence of multiple nodules in the spleen, and portocaval lymphadenopathy with a central low-attenuated area (Fig. 1D).