Case Studies

 Case 3.5 Chronic granulomatous disease

Mark was born by Caesarean section and weighed 3.1kg. He is the sixth child of unrelated white parents. At the age of 4 weeks, he developed an axillary abscess which healed spontaneously, followed by a staphylococcal abscess of the chest wall, requiring surgical incision and a course of flucloxacillin. He had a total white-cell count of 45 x 10⁹/l, of which 90% were neutrophils.

At the ages of 3 and 7 months, he was readmitted to hospital with large staphylococcal abscesses, first on his face and then on his right buttock; both were treated by surgical incision and systemic antibiotics for 10 days. By the age of 2 years, he had been admitted to hospital five times with staphylococcal abscesses. The family history was remarkable: three elder brothers had died of infections at ages ranging from 7 months to 3 years, but his parents and two sisters were healthy.

On examination, he was pale and persistently pyrexial. His height and weight were below the third centile. He had bilateral axillary and inguinal lymphadenopathy with marked hepatosplenomegaly.

Laboratory tests showed mild anaemia (Hb 104g/l) with marked polymorphonuclear leucocytosis. His immunological investigations are summarized in Table C3.5. There was gross polyclonal elevation of all immunoglobulin classes, particularly IgG and IgA. His neutrophils moved and phagocytosed Staphylococcus aureus normally; however, they showed impaired intracellular killing of staphylococci. Further tests on this boy showed that his polymorphs failed to consume oxygen or to produce hydrogen peroxide during phagocytosis. These findings, and the probable X-linked nature of the condition, are diagnostic of chronic granulomatous disease.

Now aged 7 years, Mark continues to have periodic abscesses despite long-term co-trimoxazole. Since most antibiotics fail to penetrate cells effectively, treatment of acute infections is continued for at least 8 weeks. He has not had a major infection necessitating therapy with interferon-gamma but is on a prophylactic antifungal agent.

Table C3.5 Immunological tests* in Case 3.5.

*Normal range for age (or value for healthy control studied in parallel) is shown in brackets.

**Percentage of neutrophils showing reduction of NBT before and after stimulation with endotoxin (see Chapter 19).

***Distance moved (in mm) by test (and healthy control) neutrophils (see Chapter 19).