Bloqueo cardíaco completo, oftalmoplejía externa y retinitis pigmentaria / Complete heart blockade, external ophthalmoplegia, and pigmentary retinitis

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[Genetic alterations in sinonasal adenocarcinoma in wood workers studies with comparative genomic hybridization]. / Alteraciones genéticas en adenocarcinomas nasosinusales de trabajadores de la madera mediante hibridación genómica comparativa.

Eleven wood-workers with sinonasal adenocarcinoma were analyzed by comparative genomic hybridization. This technique serves as a screening test for regions of copy number changes in tumor genomes. We have applied the technique to map DNA gains and losses in 9 cases of formalin-fixed, paraffin-embedded tumors and 2 cases of frozen tumors. Gains were found most frequently than losses. Whole arm chromosomic gains were detected in high frequencies at 8q, 7q, 12q and 18p and losses at 18q, 8p, 10q, 5q, 14q and 17p. The segment most frequently amplified was 18p11.1-q11 (45%), even though others like 7q21-22 (18%) were related with lower survival rates. This analysis allows us to know for the first time the chromosomic aberrations that occur and may play an important role in sinonasal adenocarcinoma. In the future, comparative genomic hybridization could be used in the woodworkers with long exposition to wood dust to detect initial genetic aberrations and obtain an early treatment and diagnosis of the disease.

Alteraciones genéticas en adenocarcinomas nasosinusales de trabajadores de la madera mediante hibridación genómica comparativa / Genetical disorders in sinonasal adenocarcinomas in wood-workers by comparative genomic hybridization

Se estudian 11 pacientes trabajadores de la madera que desarrollaron adenocarcinomas nasosinusales. Se utilizó la hibridación genómica comparativa como método de análisis en el conjunto del contenido genómico en 9 tumores parafinados y 2 tumores congelados.Encontramos alteraciones en todos los casos predominando las ganancias cromosómicas frente a las pérdidas. Las ganancias más frecuentes de brazos cromosómicos se observan en 8q, 7q, 12q y 18p y las pérdidas o deleciones en 18q, 8p, 10q, 5q, 14q y 17p. El mayor número de amplificaciones se encontró en 18p11.1-q11 (45 por ciento), aunque otras como 7q21-22 (18 por ciento) se relacionaron con menor supervivencia. Por primera vez, este análisis permite conocer las alteraciones cromosómicas ocurridas en los adenocarcinomas nasosinusales y es un primer paso en el diseño de un modelo de progresión. En un futuro, la hibridación genómica comparativa podría ser utilizada en trabajadores expuestos al polvo de madera para detectar las alteraciones genéticas iniciales y contribuir al diagnóstico y tratamiento precoz de la enfermedad. (AU)

Eleven wood-workers with sinonasal adenocarcinoma were analyzed by comparative genomic hybridization. This technique serves as a screening test for regions of copy number changes in tumor genomes. We have applied the technique to map DNA gains and losses in 9 cases of formalin-fixed, paraffin-embedded tumors and 2 cases of frozen tumors. Gains were found most frequently than losses. Whole arm chromosomic gains were detected in high frequencies at 8q, 7q, 12q and 18p and losses at 18q, 8p, 10q, 5q, 14q and 17p. The segment most frequently amplified was 18p11.1-q11 (45%), even though others like 7q21-22 (18%) were related with lower survival rates. This analysis allows us to know for the first time the chromosomic aberrations that occur and may play an important role in sinonasal adenocarcinoma. In the future, comparative genomic hybridization could be used in the woodworkers with long exposition to wood dust to detect initial genetic aberrations and obtain an early treatment and diagnosis of the disease (AU)

[Amyloidosis associated with chronic granulomatous disease in a patient with a renal transplant and recurrent urinary tract infections]. / Amiloidosis asociada a enfermedad granulomatosa crónica en una paciente con un trasplante renal e infecciones urinarias de repetición.

Chronic granulomatous disease is a group of syndromes which share a defect in a component of the phagocyte NADPH-oxidase complex. Without this enzyme activity, phagocytic cells cannot produce superoxide, peroxide, and other potent microbicidal radicals, and are less able to kill ingested pathogens. The clinical picture is characterised by recurrent life-threatening bacterial and fungal infections and abnormal tissue granuloma formation. On the other hand, amyloidosis is a systemic disease with renal involvement occurring in the majority of cases. Recurrent amyloidosis is a rare but well documented event in renal transplant recipients. However, graft loss secondary to amyloidosis has been noted infrequently. In addition, de novo amyloidosis has not been previously associated with graft loss. We report here a renal transplant recipient with chronic granulomatous disease and history of recurrent urinary tract infections, who developed nephrotic syndrome and progressive renal insufficiency secondary to de novo AA amyloidosis leading to graft loss 66 months after transplantation.

Amiloidosis asociada a enfermedad granulomatosa crónica en una paciente con un trasplante renal e infecciones urinarias de repetición / Amyloisodis associated with chronic granulomatous disease in a renal transplant patient with recurrent urinary tract infections

La enfermedad granulomatosa crónica es una inmunodeficiencia hereditaria consistente en la disfunción del sistema NADPH oxidasa en las células leucocitarias fagocíticas. El déficit de esta oxidasa, responsable de la producción de metabolitos de oxígeno microbicidas, produce una reducción de la capacidad de eliminar bacterias catalasapositivas y hongos, haciendo que los pacientes afectados sean susceptibles a infecciones piogénicas recurrentes y a la formación de granulomas. Por otra parte, la amiloidosis es una enfermedad sistémica que en la mayoría de los casos afecta al riñón. Aunque la amiloidosis puede recidivar en el riñón trasplantado, la afectación de novo del injerto y la pérdida de su función por esta causa es un hecho excepcional. Presentamos el caso de una receptora de un trasplante renal de cadáver, con enfermedad granulomatosa crónica y una historia de infecciones urinarias de repetición, que desarrolló un cuadro de síndrome nefrótico e insuficiencia renal progresiva secundario a amiloidosis AA de novo, que le condujo a la pérdida del injerto 66 meses después del trasplante (AU)

[Multiple brown tumors in a female hemodialyzed patient with severe secondary hyperparathyroidism]. / Múltiples tumores pardos en una paciente en hemodiálisis con hiperparatiroidismo secundario grave.

Skeletal brown tumours are relatively uncommon, and brown tumours that involve multiple bones are considered very rare. We describe a 29-year-old woman with chronic renal failure (CRF) who had undergone hemodialysis for 21 years and developed multiple brown tumours associated with severe secondary hyperparathyroidism. Computed tomography (CT) revealed multiple brown tumours involving scapula, ribs, spine and sacroiliac bone. Microscopic analysis of the brown tumour showed dense infiltration of the marrow space by reactive fibroblastic tissue with irregularly distributed multinucleated osteoclastic giants cells and marked increase in hematopoietic elements.

Múltiples tumores pardos en una paciente en hemodiálisis con hiperparatiroidismo secundario grave / Multiple brown tumors in a hemodialysis patient with severe secondary hyperparathyroidism

Describimos el caso de una mujer de 29 años con insuficiencia renal crónica (IRC) en programa de hemodiálisis (HD) periódicas durante 21 años, y que en ese período de tiempo desarrolló un cuadro de hiperparatiroidismo secundario grave. La tomografía axial computarizada (TAC) reveló la presencia de múltiples tumores pardos que afectaban a escápula, costillas, columna vertebral, huesos pelviano y sacro. El análisis microscópico del tumor pardo mostró la presencia de una densa infiltración del espacio medular por un tejido fibroblástico reactivo, células osteoclásticas gigantes multinucleadas irregularmente distribuidas, histiocitos cargados de hemosiderina y un marcado incremento de los componentes hematopoyéticos (AU)

Calcification of all four parathyroid glands in a hemodialysis patient with secondary hyperparathyroidism revealed by computerized tomography.

This report describes the parathyroid scan, computerized tomography and histologic findings in a young female hemodialysis patient with severe secondary hyperparathyroidism. These findings included hyperplasia and calcification of all four parathyroid glands.

[Idiopathic retroperitoneal fibrosis]. / Fibrosis retroperitoneal idiopática.

OBJECTIVE: A case of idiopathic retroperitoneal fibrosis in a 34-year-old man with anemia and elevated erythrocyte sedimentation rate is presented. METHODS/RESULTS: Ultrasound, CT and MRI evaluation and pathological study were performed. These diagnostic imaging techniques demonstrated an infiltrating mass in the upper portion of the abdomen which was resected. Histological and immunohistochemical studies of the surgical specimen demonstrated sclerosing retroperitonitis. CONCLUSIONS: Idiopathic retroperitoneal fibrosis (Ormond's disease) is a rare disease entity whose etiology is obscure and is characterized by retroperitoneal fibrosis with inflammatory infiltrates composed of plasma cells, lymphocytes and eosinophils. This case is of interest due to its atypical location, and because the patient was young with no remarkable clinical history and only mild anemia and an elevated erythrocyte sedimentation rate.

[Retroperitoneal ganglioneuroma in childhood]. / Ganglioneuroma retroperitoneal en la infancia.

OBJECTIVE: An incidentally discovered retroperitoneal ganglioneuroma in a 4-year-old child is presented. METHODS: Ultrasonography and CT were performed. The surgical specimen was analyzed by macroscopic, histological and immunohistochemical techniques. RESULTS: US and CT localized a retroperitoneal mass independent from the left kidney and adrenal gland. The histological study showed a fascicular proliferation with myxoid and fibrillar areas mixed with mature ganglion cells. These cells were positive for neurofilament and neuron specific enolase. The patient had a favorable outcome with no signs of tumor recurrence. CONCLUSIONS: Ganglioneuroma is a rare, completely mature tumor that has to be differentiated from neuroblastoma.

Invaginación ileocecal causada por un pólipo fibroide inflamatorio / Ileocecal intussusception caused by an inflammatory fibroid polyp

El pólipo fibroide inflamatorio es una lesión poco frecuente del tracto gastrointestinal caracterizada por una proliferación celular no neoplásica compuesta por fibroblastos, vasos sanguíneos y células inflamatorias en el seno de una estroma edematosa y colágena. Presentamos el caso de una mujer de 78 años de edad en la que la enfermedad se manifestó inicialmente con un cuadro de suboclusión intestinal. El estudio histológico puso de manifiesto una estructura polipoide constituida por una proliferación de vasos de variado tamaño, algunos congestivos, y de fibroblastos, que se disponían en áreas de forma concéntrica. La estroma se acompañaba de un intenso infiltrado inflamatorio con abundantes eosinófilos. El pólipo fibroide inflamatorio podría considerarse una lesión no neoplásica de carácter reactivo e inflamatorio, y explicarse como una cicatrización hipertrófica del tejido conectivo submucoso, a modo de queloide (AU)

[Intestinal tuberculosis, a difficult suspected diagnosis]. / Tuberculosis intestinal, un difícil diagnóstico de presunción.

Intestinal tuberculosis (ITB) is an always difficult clinical diagnosis; we must keep in mind it in the diagnosis of patients with abdominal pain, even without concomitant lung involvement. Seven patients with ITB were revised. Five patients were male and two female, with a mean age of 45 years; all of them presented abdominal pain. Ileocecal region was involved in 71.4% of the cases. Only one patient showed old specific pulmonary lesions radiologically. Neoplasia was the most frequent clinical presumption. ITB diagnosis was made only in one case, as first possibility. Histopathological examination revealed caseous granulomas in all the cases, with acid-alcohol resistant bacilli in 71.4% of them. We want to underline the need of thinking about ITB, in the clinical evaluation of in specific abdominal pain, above all in immunosuppressed patients, and to emphasize the importance of histopathologic findings in the final diagnosis of this entity.

Tuberculosis intestinal, un difícil diagnóstico de presunción / Intestinal tuberculosis, difficult clinical diagnosis

La tuberculosis intestinal (TBI) es un diagnóstico clínico siempre difícil que es necesario tener en cuenta al valorar cuadros de dolor abdominal, incluso sin afectación pulmonar concomitante. Revisamos siete casos de TBI, en cinco varones y dos mujeres, con una edad media de 45 años; todos se presentaron como dolor abdominal. La localización pricipal fue íleo-cecal (71,4%). En un enfermo se documentó radiografía de tórax anormal por tuberculosis pulmonar antigua. El diagnóstico de presunción más frecuente fue el de neoplasia y sólo en un caso se pensó en TBI como primera posibilidad. Se llegó al diagnóstico final tras el estudio histopatológico, en el que se observaron granulomas caseificantes en todos los casos, con bacilos ácido-alcohol resistentes en el 71,4%. Queremos subrayar la necesidad de pensar en TBI, al valorar cuadros de dolor abdominal, sobre todo en inmunodeprimidos y destacar la importancia del estudio anatomopatológico en el diagnóstico final de estos enfermos (AU)

[Adrenal oncocytoma]. / Oncocitoma suprarrenal.

OBJECTIVE: To describe an additional case of adrenocortical oncocytoma that had been incidentally discovered. METHODS/RESULTS: A case of adrenocortical oncocytoma in a 30-year-old male is presented. Patient evaluation by US, CT and arteriography revealed a well-defined mass between the upper pole of the left kidney, spleen and stomach, that appeared to be of adrenal origin. Histopathological and ultrastructural studies revealed a benign adrenocortical oncocytoma with moderate cell atypia but with no signs of infiltration. CONCLUSION: Adrenocortical oncocytoma must be included in the differential diagnosis of solid adrenal tumors.

Two new cases of Cumming syndrome confirming autosomal recessive inheritance.

We report on two stillborn sisters with generalized hydrops, campomelia, cervical lymphocele, and polycystic dysplasia of kidney, liver, and pancreas. This syndrome conforms to that first described by Cumming et al. [Am. J. Med. Genet. 25:783-790, 1986]. This observation provides additional support for the notion that this syndrome has an autosomal recessive pattern of inheritance.