RESUMO
Germ cell tumors (GCTs) are associated with pure gonadal dysgenesis or Swyer syndrome. Swyer syndrome usually presents with primary amenorrhea, streak ovaries, and mixed GCT. However, our patient presented with secondary amenorrhea, normal female external genitalia, and a mixed GCT. Constitutional karyotype was suggestive of 46,XY. Management comprised chemotherapy, followed by surgery. Histopathology was suggestive of dysgerminoma complicating a gonadoblastoma. The purpose of reporting this case is its rarity and the importance of diagnosing an XY karyotype, as the incidence of GCTs is higher in these patients.
Assuntos
Disgerminoma , Disgenesia Gonadal 46 XY , Gonadoblastoma , Neoplasias Embrionárias de Células Germinativas , Neoplasias Ovarianas , Humanos , Feminino , Neoplasias Ovarianas/patologia , Amenorreia/complicações , Disgerminoma/diagnóstico , Disgerminoma/terapia , Disgerminoma/patologia , Gonadoblastoma/complicações , Gonadoblastoma/diagnóstico , Gonadoblastoma/patologia , Disgenesia Gonadal 46 XY/diagnóstico , Disgenesia Gonadal 46 XY/genética , Disgenesia Gonadal 46 XY/complicações , Neoplasias Embrionárias de Células Germinativas/terapia , Neoplasias Embrionárias de Células Germinativas/complicaçõesRESUMO
The diagnosis of blood-borne infections in immunocompromised patients is a major challenge for the clinical microbiology laboratory. Isolation of bloodborne pathogens in these patients has profound clinical implications, yet is fraught with technical problems, including the presence of unusual and difficult to isolate pathogens. Coupled with this is the problem of false-positive blood culture signals from automated blood culture systems which further delays the definitive diagnosis. Here, we present a case of an 8-year-old boy with Ph +ve acute lymphoblastic leukaemia who has repeated 'false positive' blood cultures and later grew an uncommon organism.
Assuntos
Hemocultura/normas , Infecções Transmitidas por Sangue/diagnóstico , Infecções por Mycobacterium não Tuberculosas/diagnóstico , Mycobacterium abscessus/isolamento & purificação , Leucemia-Linfoma Linfoblástico de Células Precursoras/complicações , Amicacina/uso terapêutico , Antibacterianos/uso terapêutico , Azitromicina/uso terapêutico , Infecções Transmitidas por Sangue/sangue , Criança , Clofazimina/uso terapêutico , Diagnóstico Diferencial , Reações Falso-Positivas , Humanos , Hospedeiro Imunocomprometido , Levofloxacino/uso terapêutico , Masculino , Infecções por Mycobacterium não Tuberculosas/tratamento farmacológico , Mycobacterium abscessus/efeitos dos fármacos , Leucemia-Linfoma Linfoblástico de Células Precursoras/sangueRESUMO
Brevibacteria are a part of the normal skin flora and may be dismissed in blood cultures as contaminants. They have been reported as opportunistic pathogens in immunocompromised patients. We report a catheter-related bloodstream infection with Brevibacterium casei in a 6-year-old child with aplastic anaemia. Treatment with appropriate antibiotics along with the removal of the catheter resulted in complete cure in our patient.