Diagnóstico prenatal de síndrome de Bruck en una paciente con tres gestaciones consecutivas afectas / Prenatal diagnosis of Bruck syndrome in a patient with three consecutive pregnancies affected

La osteogénesis imperfecta es una enfermedad genética autosómica dominante, en la que existe un defecto en la formación de colágeno. Esto se traduce en distintos grados de debilidad y fragilidad ósea. Existen una serie de síndromes que durante años fueron clasificados como tipos de osteogénesis imperfecta, pero que más tarde se ha comprobado que a pesar de causar un fenotipo similar, no son causados por mutaciones en los genes del procolágeno tipo I. El síndrome de Bruck es un trastorno recesivo con contracturas congénitas y fragilidad ósea que fenotípicamente se parece a la osteogénesis imperfecta pero que el defecto se encuentra en ciertas regiones del cromosoma 3 y 17. Presentamos el caso de una paciente que realizó 3 interrupciones voluntarias del embarazo por fetos afectos de un síndrome caracterizado por fracturas patológicas intraútero. La necropsia del feto del tercer embarazo y los estudios genéticos realizados en tejido fetal y sangre de los padres, condujeron al diagnóstico de un síndrome de Bruck, lo que permitirá a la pareja la posibilidad de una futura gestación libre de enfermedad (AU)

Imperfect osteogenesis is a dominant autosomal genetic disease, which produce a defect in collagen formation, that results in degrees of weakness and bone fragility. For years, a number of syndromes were classified as types of imperfect osteogenesis, but it was found that despite it had a similar phenotype, they are caused by mutations in the genes of procollagen type I. Bruck syndrome is a recessive disorder with congenital contractures and bone fragility that phenotypically resembles imperfect osteogenesis, but that defect is found in certain regions of chromosome 3 and 17. We report a case of a patient who performed three abortions for fetuses suffering from a syndrome characterized by pathological fractures in utero. The autopsy of the fetus from the third pregnancy and genetic studies performed in fetal tissue and blood of parents, led to the diagnosis of Bruck syndrome, which allow the couple the possibility of future free disease gestation (AU)

Nodular colitis: endoscopic image an unusual finding.

An 82-year-old male with a history of high blood pressure, COPD, chronic myeloid leukemia, and stage-4 chronic renal failure. Admitted to hospital for lower-limb cellulitis and severe COPD exacerbation, he received antibiotic therapy and bronchodilators. During his hospital stay he developed severe anemia and had an hematochezia event with no diarrhea. A complete colonoscopy found small (4-7 mm) nacreous elevated lesions, circumferential in shape, in the cecum and ascending colon with some bleeding stigmata and submucosal bleeding suggestive of infectious colitis; stool culture was negative and Clostridium difficile toxins were positive. The condition was histologically confirmed.

Colitis infecciosa nodular: un hallazgo inusual / Nodular colitis: endoscopic image an unusual finding

No disponible

Paciente con dispepsia y tumoración abdominal gigante / A patient with dyspepsia and a giant abdominal tumor

No disponible

Endometriosis ureteral en paciente monorrena. Presentación del caso y revisión de la literatura / Ureteral endometriosis in a single-kidney patient. Case report and literatura review

La endometriosis se define como la presencia de tejido endometrial funcionante localizado de manera ectópica fuera de la cavidad uterina. La afectación del aparato urinario es poco frecuente evidenciándose únicamente en el 5% de las pacientes con endometriosis. Presentamos el caso de una paciente de 44 años monorrena izquierda, que ingresa en el servicio de urología por hidronefrosis y dolor en fosa renal de un mes de evolución. Se realiza estudio de uropatía obstructiva izquierda evidenciándose efecto masa en uréter distal izquierdo. Dados los hallazgos y los antecedentes de la paciente (monorrena izquierda) se decide realizar ureterectomía y vejiga psoica, con toma de biopsia intraoperatoria. El estudio histopatológico de la pieza reveló el diagnóstico de endometriosis ureteral. La paciente en la actualidad se encuentra asintomática y con función renal normal (AU)

Endometriosis is defined as the presence of ectopic endometrial tissue outside the normal confines of the uterine cavity. Urinary tract involvement is uncommon, its incidence being about 5%. We report the case of a 44 year-old patient with a single left kidney admitted to the urology department of our hospital diagnosed with left-sided hydronephrosis. She also complained of pain in the left renal fossa for more than a month. A study of left obstructive uropathy was performed, revealing a mass effect in the left distal ureter. Given the findings and the patient's history (a single left kidney), we decided to perform ureterectomy and to fix the bladder to the psoas, as well as to perform an intraoperative biopsy. The histopathological report of the surgical specimen confirmed the previous diagnosis of ureteral endometriosis. The patient is currently asymptomatic and has normal renal function (AU)

[Low grade fibromixoid sarcoma: a purpose of 3 cases and review of the bibliography]. / Sarcoma fibromixoide de bajo grado: a propósito de 3 casos y revisión de la bibliografía.

BACKGROUND: Low grade fibromyxoid sarcoma or tumor Evans is a variety of soft tissue sarcoma that represents 1% of all malignancies. More common in limbs and trunk (50%), we present 3 new cases of retroperitoneal reviewing their characteristics and performing a literature review. CLINICAL CASE: In the retroperitoneal location highlights the poor specificity of clinical symptoms, demonstrating, according to their growth and size, as an abdominal tumor, usually painless, or by compression and/or invasion of nearby structures. In cases that present the most important finding was the presence of a palpable abdominal tumor without other symptoms despite remarkable infiltration of other organs that should be included in surgical resection. CONCLUSIONS: We emphasize the difficulty of correct diagnosis preoperatively because preoperative studies are inconclusive and only the histological and immuno-histo-typing chemistry allow precise identification.

Antecedentes: el sarcoma fibromixoide de bajo grado o tumor de Evans es una variedad de sarcoma de partes blandas que representa el 1% de todos los tumores malignos. Más frecuente en extremidades y tronco (50%), presentamos tres nuevos casos de localización retroperitoneal. Se revisan sus características y se realiza actualización bibliográfica. Casos clínicos: en su localización retroperitoneal destaca lo inespecífico de su sintomatología clínica, se manifiesta en función de su crecimiento y tamaño, como una tumoración abdominal, habitualmente indolora, o por la compresión y/o invasión de estructuras próximas. Los casos presentados se manifestaron, por la presencia de tumoración abdominal, sin otra sintomatología; a pesar de infiltrar a otros órganos. Conclusiones: el diagnóstico preoperatorio es difícil, y debe tenerse la presunción clínica para solicitar el estudio histológico, con tipificación inmuno-histo-química para su dentificación precisa.

Colestasis intrahepática grave asociada a la ingesta decetiricina / Severe intrahepatic cholestasis associated with cetirizine

No disponible

No disponible

[Castleman's disease of the neck]. / Enfermedad de Castleman cervical.

Castleman's disease is an uncommon benign lymphoid disorder usually found in the mediastinum (70 %) which is thought to be due to antigenic hyperstimulation of unknown origin. Two histological subtypes may be found in relation to two different clinical patterns with clinical and therapeutic implications. Diagnosis is frequently accomplished only by histological analysis after surgery since no specific features have been found in imaging studies. Surgical excision is both diagnostic and curative in localized forms, whereas additional therapies are required in multicentric forms. This report is of Castleman's disease presenting as a neck mass, an infrequent occurrence, with an analysis of management controversies and a review of the literature.

Enfermedad de Castleman cervical / Castleman’s disease of the neck

La enfermedad de Castleman es un trastorno linfoproliferativo benigno muy poco frecuente que generalmente aparece en el mediastino (70 %) que se cree debido a una sobrestimulación antigénica de causa desconocida. Se han descrito dos diferentes subtipos histológicos con diferentes comportamientos clínicos e implicaciones terapéuticas. A menudo sólo se diagnostica esta enfermedad mediante el estudio histológico de la pieza tras su exéresis quirúrgica debido a la inexistencia de patrones de imagen específicos en las pruebas de radiodiagnóstico para esta enfermedad. El tratamiento quirúrgico es diagnóstico y a la vez curativo en las formas localizadas, mientras que son necesarios tratamientos complementarios en las formas multicéntricas. Describimos un caso de enfermedad de Castleman de presentación cervical, forma infrecuente de esta enfermedad, y realizamos una revisión de la literatura disponible incidiendo en las controversias que surgen en cuanto a su diagnóstico y tratamiento

Castleman’s disease is an uncommon benign lymphoid disorder usually found in the mediastinum (70 %) which is thought to be due to antigenic hyperstimulation of unknown origin. Two histological subtypes may be found in relation to two different clinical patterns with clinical and therapeutic implications. Diagnosis is frequently accomplished only by histological analysis after surgery since no specific features have been found in imaging studies. Surgical excision is both diagnostic and curative in localized forms, whereas additional therapies are required in multicentric forms. This report is of Castleman’s disease presenting as a neck mass, an infrequent occurrence, with an analysis of management controversies and a review of the literature

[Malignant recurrence of a penile cutaneous horn]. / Recidiva malignizada de cuerno cutáneo peneano.

OBJECTIVES: To report one case of malignant recurrence of a cutaneous horn of the glans penis. METHODS: We report the case of a 66-year-old male patient presenting with penile discomfort over several months. Physical examination showed a corneal lesion in the glans-penis, the biopsy of which was reported as hyperkeratosis on top of pseudoepiteliomatous hyperplasia. Partial penectomy of the glans penis was performed after recurrence three months later. RESULTS: Pathological study of the specimen identified a microinvasive squamous cell carcinoma in the base of the lesion. The patient is disease-free after two years of follow-up. CONCLUSIONS: We emphasize the capacity the penile cutaneous horn has to become malignant. We also point out the need for observation of these lesions after excision.

Recidiva malignizada de cuerno cutáneo peneano / MAlignant recurrence of a penile cutaneous horn

OBJETIVO: Presentación de un caso de recidivamalignizada de cuerno cutáneo localizado en glande.METODO: Describimos el caso de un paciente varón de 66años que refiere molestias peneanas de varios meses de evolución.La exploración física evidenció una lesión córnea cuyabiopsia en cuña demostró hiperqueratosis sobre base dehiperplasia pseudoepiteliomatosa. La recidiva a los tres mesesnos hizo indicar glandectomía.RESULTADOS: El estudio anatomopatológico de la pieza permitióidentificar un carcinoma escamoso microinvasor en labase de implantación del cuerno cutáneo. El paciente seencuentra libre de enfermedad tras dos años de seguimiento.CONCLUSIONES: Destacamos el potencial de malignizacióndel cuerno cutáneo de localización peneana.Señalamos asimismo la necesidad de vigilancia en el tiempode dichas lesiones tras su extirpación

OBJECTIVES: To report one case ofmalignant recurrence of a cutaneous horn of the glanspenis.METHODS: We report the case of a 66-year-old malepatient presenting with penile discomfort over severalmonths. Physical examination showed a corneal lesionin the glans-penis, the biopsy of which was reported ashyperkeratosis on top of pseudoepiteliomatous hyperplasia.Partial penectomy of the glans penis was performedafter recurrence three months later.RESULTS: Pathological study of the specimen identifieda microinvasive squamous cell carcinoma in the base ofthe lesion. The patient is disease-free after two years offollow-up.CONCLUSIONS: We emphasize the capacity thepenile cutaneous horn has to become malignant. Wealso point out the need for observation of these lesionsafter excision

[Infiltrative small cell carcinoma of the bladder. New case report: treatment with radical surgery and chemotherapy]. / Carcinoma vesical infiltrante de celulas pequeñas. Descripcion de un nuevo caso tratado con cirugia radical mas quimioterapia.

OBJECTIVES: To report a new case of infiltrative small cell bladder cancer. METHODS: We describe the case of a 60-year-old male patient who consulted for monosymptomatic hematuria over a few weeks. Cystoscopy showed a neoplasia in the anterior wall of the bladder. Pathological analysis of the TUR chips was compatible with infiltrative small cell tumor. After a negative staging study radical cystectomy plus adjuvant chemotherapy were indicated. RESULTS: Pathological study of the surgical specimen confirmed the diagnosis with involvement of the surrounding fat. There is no evidence of neoplasic involvement after 24 months follow-up. CONCLUSIONS: We point out the validity of a radical surgical approach for this tumor, also emphasizing the importance of adjuvant chemotherapy. We concur with other authors in the need of multicentric studies to outline the most effective surgical option, due to the limited number of cases of this entity.

[Metacronous transitional cell carcinoma of the prostatic urethra in a patient with history of nephroureterectomy for upper urinary tract urothelial tumor]. / Carcinoma transicional de uretra prostatica meta-crónico en paciente con antecedente de nefroureterectomía por tumor uroteual del tracto urinario superior.

OBJECTIVES: We report one case of Metacronous transitional cell carcinoma (TCC) of the prostatic urethra in a patient with history of left nephroureterectomy 22 years before for urothelial neoplasia of the upper urinary tract. METHODS: We describe the case of a 56-year-old male patient who presents with oligosymptomatic hematuria for several months. Cystourethroscopy showed irregular hyperemic lesions in the prostatic urethra, cold biopsy of which showed urothelial atypia. Pathology report of fragments of a posterior transurethral resection (TUR) was compatible with high-grade superficial transitional cell neoplasia. Instillation of Bacillus Calmette-Guerin (BCG) was indicated. Reevaluation TUR was performed. RESULTS: Pathologic report of new samples showed TCC infiltrating the prostatic stroma. The extension study showed ilioobturator adenopathies. Chemotherapy did not achieve significant results. Radical surgery was rejected. CONCLUSIONS: We emphasize the notable metachronous character of the transitional cell carcinoma of the prostatic urethra with respect to the upper urinary tract TCC. We also point out the metastasic capacity of these neoplasias, as well as the bad prognosis of those cases in which chemotherapy is not effective.