Introduction
Chronic granulomatous disease (CGD) is a primary neutrophil disease and a rare disorder associated with recurrent severe bacterial and fungal infections. Here we describe a child who admitted hospital with progressive dysphagia and diagnosed at the end with chronic granulomatous disease.
Case Report
A 10 year-old boy, was admitted to Hacettepe University Ihsan Dogramaci Children’s Hospital with 3 months history of nausea, vomiting and progressive dysphagia including both solids and liquids. In the laboratory analysis, cell blood count showed eosinophilia (700/μL), hypergamaglobulinemia and mildly high serum IgE level (127 UI/mL).Thoracic CT imaging revealed a soft tissue mass, forming increased eccentric thickness around the esophagus, starting from carina and extending till gastroesophageal junction.Transthoracic biopsy from esophagus showed eosinophilic esophagitis.
The patient was tested for primary immunodeficiencies and diagnosis of CGD was confirmed by both abnormal neutrophil nitroblue tetrazolium (NBT) and dihydrorhodamine test. 1 mg/kg/day methyl prednisolon was started and given for 2 weeks for eosinophilic esophagitis. Interferon (IFN)-gamma (50mcg/m2/day twice a week) and TMP-SMX and itraconazole prophylaxis were started. Isoniazide and rifampicin were given as ppd was 15 mm.
Discussion
Defects in the subunits of nicotinamide dinucleotide phosphate (NADPH) oxidase enzyme complex in phagocytes cause the disease. Patients typically present with infections. CGD may cause noninfectious complications including a wide range of inflammatory diseases.In the present patient eosinophilic esophagitis causing disphagy was the first symptom of CGD. CGD cause increased incidence of GI disease. Thus, patients with distinct GI manifestations should be evaluated for CGD.