RESUMEN
Bartonella henselae infection is a prevalent illness in Chile. It presents generally as a cat scratch disease or as a prolonged fever syndrome. There are atypical manifestations, which include central nervous system, bone, cardiac and hepato-esplenic compromised. We present an adolescent case with a history of fever, vomiting and ataxia, whose diagnosis was a central nervous system infection by Bartonella henselae associated with a choroid plexus papilloma. This case corresponds to an unusual presentation, with a challenging diagnosis. It is controversial whether to treat this patient, which antimicrobial is the right choice and how long the treatment should be.
Asunto(s)
Enfermedad por Rasguño de Gato/diagnóstico por imagen , Infecciones del Sistema Nervioso Central/microbiología , Papiloma del Plexo Coroideo/diagnóstico por imagen , Adolescente , Biopsia , Enfermedad por Rasguño de Gato/complicaciones , Enfermedad por Rasguño de Gato/patología , Infecciones del Sistema Nervioso Central/diagnóstico por imagen , Infecciones del Sistema Nervioso Central/patología , Femenino , Humanos , Papiloma del Plexo Coroideo/complicaciones , Papiloma del Plexo Coroideo/patología , Tomografía Computarizada por Rayos XRESUMEN
Resumen La infección por Bartonella henselae es una enfermedad prevalente en nuestro país. En general, se presenta como la enfermedad por arañazo de gato o un síndrome febril prolongado. Existen manifestaciones atípicas dentro de las cuales está el compromiso óseo, cardíaco, hepatoesplénico y del sistema nervioso central. Se presenta el caso de una adolescente con historia de vómitos, fiebre y ataxia, en que se diagnosticó una infección por Bartonella henselae con compromiso del sistema nervioso central, asociada a un papiloma del plexo coroídeo. Este caso corresponde a una presentación inusual, de difícil diagnóstico. Su tratamiento es motivo de controversia, tanto en si es necesario tratar, la elección del antimicrobiano, como su duración.
Bartonella henselae infection is a prevalent illness in Chile. It presents generally as a cat scratch disease or as a prolonged fever syndrome. There are atypical manifestations, which include central nervous system, bone, cardiac and hepato-esplenic compromised. We present an adolescent case with a history of fever, vomiting and ataxia, whose diagnosis was a central nervous system infection by Bartonella henselae associated with a choroid plexus papilloma. This case corresponds to an unusual presentation, with a challenging diagnosis. It is controversial whether to treat this patient, which antimicrobial is the right choice and how long the treatment should be.
Asunto(s)
Humanos , Femenino , Adolescente , Enfermedad por Rasguño de Gato/diagnóstico por imagen , Infecciones del Sistema Nervioso Central/microbiología , Papiloma del Plexo Coroideo/diagnóstico por imagen , Biopsia , Enfermedad por Rasguño de Gato/complicaciones , Enfermedad por Rasguño de Gato/patología , Tomografía Computarizada por Rayos X , Infecciones del Sistema Nervioso Central/patología , Infecciones del Sistema Nervioso Central/diagnóstico por imagen , Papiloma del Plexo Coroideo/complicaciones , Papiloma del Plexo Coroideo/patologíaRESUMEN
PURPOSE: A 10-month-old girl with a Brachmann-Cornelia de Lange syndrome and a choroid plexus papilloma of the brain was studied at the Hospital Infantil de México Federico Gómez (HIMFG) in Mexico City. METHODS AND RESULTS: Presumptive papilloma of the third ventricle was evidenced on CT and MR images and removed. Pathological analysis confirmed its origin. A posterior radiosurgery was required due to a tumor relapse. Karyotypes (GTG bands) of the patient and her parents undertaken at HIMFG were normal. Array comparative genomic hybridization (array CGH) analyses of blood DNA of the patient and her parents carried out at BlueGnome's Laboratory in Cambridge, UK, set in evidence amplification of genes SPNS2, GGT6, SMTNL2, PELP1, MYBBP1A, and ALOX15 in chromosome 17p of the patient. Since MYBBP1A is a proto-oncogene and ALOX15 participates in the development of cancer and metastases of tumors, further fluorescent in situ hybridization (FISH) analyses of these two genes were implemented at HIMFG. Amplification of the two genes was found in the tumor of the case under study but not in an unrelated papilloma of the choroid plexus. DISCUSSION: Further analyses of the association of choroid plexus papillomas with disorders of psycho-neural development and its relationship to molecular genetic modifications at chromosome 17p are now under way at HIMFG.
Asunto(s)
Síndrome de Cornelia de Lange/complicaciones , Papiloma del Plexo Coroideo/complicaciones , Araquidonato 15-Lipooxigenasa/genética , Hibridación Genómica Comparativa , Proteínas de Unión al ADN , Síndrome de Cornelia de Lange/genética , Síndrome de Cornelia de Lange/cirugía , Femenino , Humanos , Lactante , Imagen por Resonancia Magnética , Proteínas Nucleares/genética , Proteínas de Transporte Nucleocitoplasmático/genética , Papiloma del Plexo Coroideo/genética , Papiloma del Plexo Coroideo/cirugía , Proto-Oncogenes Mas , Proteínas de Unión al ARN , Factores de TranscripciónRESUMEN
A case of Aicardi syndrome associated with a choroid plexus papilloma of the third and both lateral ventricles in a 15 months old baby girl is repported. The tumor was completely removed via three craniotomies. Reports of the literature with the association of choroid plexus papilloma and Aicardi syndrome are rare. We suggest that children diagnosed with Aicardi syndrome should routinely undergo imaging studies of the brain, such as computed tomography or magnetic resonance.