Recurrent cervical abscess: life-threatening presentation of chronic granulomatous disease in twin infants

 Non-identical male twins presented at 12 and 13 weeks of life, respectively, with recurrent cervical abscesses and signs of imminent upper-airway obstruction (UAO). Despite adequate initial surgical drainage, airway patency became seriously jeopardised in both cases by recurrent abscess formation requiring further intervention. Chronic granulomatous disease was eventually diagnosed in both cases. The unusual presentation of this rare condition with life-threatening UAO in twin infants, a scenario not previously described, is reported and a management protocol suggested. Accepted: 30 March 2000     

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目的总结分析感染洋葱伯克霍尔德菌的X连锁慢性肉芽肿病患儿的临床特点。方法回顾分析2010年1-2月于北京儿童医院住院治疗的2例感染洋葱伯克霍尔德菌的X连锁慢性肉芽肿病患儿的临床资料。结果 2例男性患儿,分别为0.5岁和1.7岁,均经CYBB基因突变分析明确诊断为X连锁慢性肉芽肿病。1例经反复血培养、1例经反复尿培养诊断为洋葱伯克霍尔德菌感染。药敏试验结果提示均为敏感菌株。结论洋葱伯克霍尔德菌是人类机会性病原,常表现为慢性肉芽肿病。常规抗生素治疗可根除感染。预防应用复方磺胺药物对此类患儿具有保护意义。     

Amantadine in chronic granulomatous disease

Chronic granulomatous disease (CGD) is a rare genetically determined immunodeficiency. Neutrophils from CGD patients show a defective killing of phagocytosed fungi and bacteria, due not only to an impairment in oxidative burst, but also to absence of normal pH value within phagocytic vacuole following phagocytosis. Because a weak base such as amantadine could potentially reverse these pH abnormalities, the authors used this drug to treat 2 CGD patients. They observed modifications of both phagosomal pH and killing activity on their neutrophils compared to those of healthy controls. Since the drug has been employed, the patients have not developed new infections, suggesting a role of amantadine as a part of CGD prophylactic regimen. These results suggest the opportunity of testing the drug in larger studies.     

Colitis in chronic granulomatous disease

BACKGROUND—Involvement of the gut in chronic granulomatous disease (CGD) has been previously described and colitis highlighted. However, the nature and histopathology of the colitis are unclear and have been thought to be non-specific or similar to Crohn''s disease.METHODS—Seven patients with CGD, suffering from gastrointestinal symptoms were prospectively studied.RESULTS—All patients had anaemia; other symptoms were failure to thrive (5/7) and diarrhoea (5/7). Most had microcytic anaemia (5/7), increased platelets (7/7), and increased erythrocyte sedimentation rate (6/6). Endoscopically there was a friable erythematous mucosa in 6/7. The histological features present in all patients consisted of a colitis with paucity of neutrophils, increased numbers of eosinophils, eosinophilic crypt abscesses, pigmented macrophages, and nuclear debris. In some granulomas were present (2/7).CONCLUSIONS—Colitis is a common cause of gastrointestinal symptoms in CGD and is caused by a non-infective inflammatory process. The histology has specific features, which are distinctive from those seen in Crohn''s disease.     

Sarcoidosis in chronic granulomatous disease

In addition to increased susceptibility to infections in patients with chronic granulomatous disease (CGD), a higher incidence of sterile inflammatory disorders in these patients has been noted. However, sarcoidosis has not been reported previously in CGD. In this report, we describe two patients who have CGD and a disorder consistent with sarcoidosis on the basis of unequivocal clinical-radiographic presentations, their responses to treatment, and serum angiotensin-converting enzyme levels. Serum angiotensin-converting enzyme levels were measured in 26 other patients with CGD to establish an appropriate reference range. A possible relationship between CGD and sarcoidosis is discussed.     

Recurrent severe infections in a girl with apparently variable expression of mosaicism for chronic granulomatous disease

A carrier of chronic granulomatous disease (CGD) has had recurrent severe purulent infections like those characteristic of CGD. The carrier state was demonstrated by the presence of both normal and CGD granulocytes in her blood; the percentage of normal granulocytes varied from 4% to 44% over 4 years. In addition, her granulocytes were partially defective in killing Escherichia coli and staphylococci and in the release of superoxide anion during stimulation. Extensive evaluation of her immune system and phagocyte function failed to reveal a second abnormality. The course in this child indicates that the carrier state for X-linked CGD cannot be considered a benign condition and might be more properly conceptualized as a continuum in expression of the full disease. Screening assays for CGD should possess the capacity to diagnose carriers of the X-linked form of the disease.     

Aspergillus endocarditis in chronic granulomatous disease

We report the first case, to our knowledge, of Aspergillus endocarditis in chronic granulomatous disease in a patient who also had an atrial septal defect. A diagnosis was made on culture of the organism from the mass despite extensive prior investigation. The presence of distinctive skin lesions as a diagnostic clue of fungaemia is highlighted. Possible advances in diagnosis by detection of fungal cell wall components and in prophylaxis by use of itraconazole are referred to. We conclude that fungal endocarditis should be considered in this condition, especially in the presence of a structural heart defect.     

Colitis in chronic granulomatous disease.

BACKGROUND: Involvement of the gut in chronic granulomatous disease (CGD) has been previously described and colitis highlighted. However, the nature and histopathology of the colitis are unclear and have been thought to be non-specific or similar to Crohn's disease. METHODS: Seven patients with CGD, suffering from gastrointestinal symptoms were prospectively studied. RESULTS: All patients had anaemia; other symptoms were failure to thrive (5/7) and diarrhoea (5/7). Most had microcytic anaemia (5/7), increased platelets (7/7), and increased erythrocyte sedimentation rate (6/6). Endoscopically there was a friable erythematous mucosa in 6/7. The histological features present in all patients consisted of a colitis with paucity of neutrophils, increased numbers of eosinophils, eosinophilic crypt abscesses, pigmented macrophages, and nuclear debris. In some granulomas were present (2/7). CONCLUSIONS: Colitis is a common cause of gastrointestinal symptoms in CGD and is caused by a non-infective inflammatory process. The histology has specific features, which are distinctive from those seen in Crohn's disease.     

Esophageal involvement in chronic granulomatous disease

A 5-year-old girl with chronic granulomatous disease (CGD) and esophageal narrowing is described. To date, only two cases of esophageal involvement in CGD have been reported. We present a third, well-documented case and a brief review of the literature.