Case Study #4 Peter was born after an uneventful pregnancy and weighed 3.1kg. At
ID: 270786 • Letter: C
Question
Case Study #4 Peter was born after an uneventful pregnancy and weighed 3.1kg. At 3 months, he developed otitis media and an upper respiratory tract infection. At the ages of 5 months and 11 months, he was admitted to hospital with Haemophilus influenzae pneumonia. The infections responded promptly to the appropriate antibiotics on each occasion. When 16 months old, he developed balanitis. He is the fourth child of unrelated parents: his three sisters show no predisposition to infection. Examination at the age of 18 months showed a pale, thin child whose height and weight were below the third centile. There were no other abnormal features. He had been fully immunized as an infant (at 2, 3 and 4 months) with tetanus and diphtheria toxoids, whole-cell pertussis, Haemophilus conjugate vaccine and oral polio. In addition he had received measles, mumps and rubella vaccine at 12 months. All immunizations were uneventful Immunological investigations (Table C3.1) into the cause of his recurrent infections showed severe panhypogammaglobulinemia with absent antibody production Although there was no family history of hypogammaglobulinemia, the absence of mature B lymphocytes in his peripheral blood strongly supported a diagnosis of ?????. His antibody defciency was treated by 2- weekly intravenous infusions of human normal lgG in a dose of 400mg/kg body weight/month. Over the following 2 years, his health steadily improved: his weight and height are now on the 10th centile, and he has had only one episode of otitis media in the last 18 months. Table C3.1 lmmunological investigations Quantitative serum immunoglobulins (g/I) G 0.17 IgA Not detected gM 0.07 [5.5-10.0] [0.3-0.8] [0.4-1.8]Explanation / Answer
Answer:
Immunological investigations (Table C3.1) into the cause of his recurrent infections showed severe panhypogammaglobulinaemia with absent antibody production. Although there was no family history of hypogammaglobulinaemia, the absence of mature B lymphocytes in his peripheral blood strongly supported a diagnosis of infantile X-linked agammaglobulinaemia (Bruton's disease). His antibody deficiency was treated by 2-weekly intravenous infusions of human normal IgG in a dose of 400mg/kg body weight/month. Over the following 2 years, his health steadily improved: his weight and height are now on the 10th centile, and he has had only one episode of otitis media in the last 18 months.