Chronic granulomatous disease.
H. N. Tipua b, T. Ahmedc, S. Alib, D. Ahmed, Muhammad Amin Waqar
- aArmed Forces Institute of Pathology, Rawalpindi
- bDepartment of Immunology, Armed Forces Institute of Pathology, Rawalpindi
- cShifa International Hospital, Islamabad
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Abstract
Chronic granulomatous disease is a rare inherited disorder characterised by inability of phagocytes to generate reactive oxygen species needed for intracellular killing of phagocytosed microorganisms. We report the case of an 8-month-old male child with recurrent chest infections and perianal abscess that had no response to conventional antibiotic treatment. His two elder brothers died due to similar complaints at the ages of 4 and 5 months. Four elder sisters were healthy and alive. This history indicated that the patient might have X-linked chronic granulomatous disease. A definite absence of superoxide activity in the patient's granulocytes detected by dihydrorhodamine test and nitroblue tetrazolium dye reduction test confirmed this diagnosis.
TL;DRAn unusual case of an 8 year old girl with chronic granulomatous disease is described, as the disease is X-linked in most of the cases. (Semantic Scholar)