Male, non-perinatal pathological history. Vaccines up to date. No morbid family history. Family history. He presented recurrent infections: at 8 months of age, pneumonia with good response to amoxicillin, lower urinary tract infection with normal renal ultrasound. Response to amoxicillin, lower urinary tract infection with normal renal ultrasound; at 9 months of age, adenophygma at 9 months, left cervical adenophygmon surgically drained; at 18 months of age he was hospitalized for study of chronic diarrhea without definitive diagnosis, which progressed with pyoderma of the scalp. At 2 years and 9 months he was admitted for pneumonia without response to three antimicrobials regimens. Computed tomography (CT) scan of the chest showed right upper lobe lung disease and hilar, mediastinal, and retroperitoneal lymphadenopathies. The fiberoptic bronchoscopy showed inflammatory granuloma, pulmonary tuberculosis was considered as the first treatment with isoniazid, pyrazinamide, ethambutol and cefotaxime was started, discontinued due to positive lung tissue culture for Pseudomonas aeruginosa and Staphylococcus aureus. Hepatomegaly and subcutaneous nodules appeared and the biopsy showed phlegmonous panniculitis. Treatment with cloxacillin, amikacin and co-trimoxazole was started. co-trimoxazole. The immunological study showed elevated serum immunoglobulins, normal lymphocyte subpopulations, HIV negative, PPD 3 mm, normal C3 and C4, positive NBT test and highly altered DTH test, confirming the diagnosis of CGD. prophylaxis started with trimethoprim/sulfamethoxazole and itraconazole. A molecular study was performed that revealed a homozygous homozygous genetic defect in gp91-phox, an alteration also present in the mother as a partial defect. At 3 and 6 years of age, the patient was hospitalized for pneumonia, without an isolated germ, with the possibility of Nocardia infection. At 7 years of age, he presented osteomyelitis of the left femur with a positive culture for Staphylococcus aureus. At 8 years of age, she was hospitalized for pneumonia treated with empiric voriconazole empirically to cover Aspergillus fumigatus not confirmed. At the age of 9 He presented fistulized perianal abscess that was surgically resolved. Maintains outpatient controls. without the presence of serious infections, with good pondoestatural evolution. Years current age, 16 years. 1- What would be the patient's diagnosis? 2- What justifies your diagnosis? Tests or labs? 3- What are the characteristics of this disease? 4- What diagnoses could this be confused with? 5- What is the prognosis of the patient's life? 6- What treatments would be indicated to the patient?
Male, non-perinatal pathological history. Vaccines up to date. No morbid family history.
Family history. He presented recurrent infections: at 8 months of age, pneumonia with good response to amoxicillin, lower urinary tract infection with normal renal ultrasound. Response to amoxicillin, lower urinary tract infection with normal renal ultrasound; at 9 months of age, adenophygma at 9 months, left cervical adenophygmon surgically drained; at 18 months of age he was hospitalized for study of chronic diarrhea without definitive diagnosis, which progressed with pyoderma of the scalp. At 2 years and 9 months he was admitted for pneumonia without response to three antimicrobials regimens. Computed tomography (CT) scan of the chest showed right upper lobe lung disease and hilar, mediastinal, and retroperitoneal lymphadenopathies. The fiberoptic bronchoscopy showed inflammatory granuloma, pulmonary tuberculosis was considered as the first treatment with isoniazid, pyrazinamide, ethambutol and cefotaxime was started, discontinued due to positive lung tissue culture for Pseudomonas aeruginosa and Staphylococcus aureus. Hepatomegaly and subcutaneous nodules appeared and the biopsy showed phlegmonous panniculitis. Treatment with cloxacillin, amikacin and co-trimoxazole was started. co-trimoxazole. The immunological study showed elevated serum immunoglobulins, normal lymphocyte subpopulations, HIV negative, PPD 3 mm, normal C3 and C4, positive NBT test and highly altered DTH test, confirming the diagnosis of CGD. prophylaxis started with trimethoprim/sulfamethoxazole and itraconazole. A molecular study was performed that revealed a homozygous homozygous genetic defect in gp91-phox, an alteration also present in the mother as a partial defect. At 3 and 6 years of age, the patient was hospitalized for pneumonia, without an isolated germ, with the possibility of Nocardia infection.
At 7 years of age, he presented osteomyelitis of the left femur with a positive culture for Staphylococcus aureus. At 8 years of age, she was hospitalized for pneumonia treated with empiric voriconazole empirically to cover Aspergillus fumigatus not confirmed. At the age of 9
He presented fistulized perianal abscess that was surgically resolved. Maintains outpatient controls. without the presence of serious infections, with good pondoestatural evolution. Years
current age, 16 years.
1- What would be the patient's diagnosis?
2- What justifies your diagnosis? Tests or labs?
3- What are the characteristics of this disease?
4- What diagnoses could this be confused with?
5- What is the prognosis of the patient's life?
6- What treatments would be indicated to the patient?
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