Copy number imbalances detected with a BAC-based array comparative genomic hybridization platform in congenital diaphragmatic hernia fetuses.

Congenital diaphragmatic hernia (CDH) is a phenotypically and genetically heterogeneous disorder, with a complex inheritance pattern. Structural abnormalities of almost all chromosomes have been described in association with CDH. We made a molecular analysis through array comparative genomic hybridization (array CGH) of a group of fetuses with prenatal ultrasound diagnosis of CDH and normal G-banded karyotypes. A whole genome BAC-array CGH, composed of approximately 5000 BAC clones, was carried out on blood samples from fetuses with prenatal ultrasound diagnosis of CDH and a normal karyotype (500-band level). All potential cytogenetic alterations detected on the arrays were reported. The array CGH analysis showed copy number gains and losses in 10 of 12 cases. Eighty-five clones showed genomic imbalances, and 29 clones displayed described copy number variations. We identified a recurrent gain in 17q12 in two of 12 cases, which has not been previously described. Our results may contribute to determining the effectiveness and applicability of array CGH for prenatal diagnosis purposes, and also to elucidate the submicroscopic genomic instability of CDH fetuses.

Hernia de bochdalek en adolescente con retardo mental / Bochdalek's hernia in a mentally retarded adolescent

La Hernia de Bochdalek es un defecto congénito de la región postero lateral o vertebro lumbar en el lado izquierdo del diafragma, ocasionado por un foramen del mismo a través del cual se desplazan las vísceras del abdomen a la cavidad pleural. Es una patología mas frecuente en el recién nacido pero rara en la adolescencia y adultos. En la literatura mundial se han reportado 100 casos en adultos. Presentamos el caso de un paciente varón de 16 años de edad con RM (retardo mental) moderado, que de manera súbita presenta convulsiones, la segunda, pues la primera la había presentado hacía 3 meses sin mayores complicaciones o trascendencia. En emergencia de Hospital General le indicaron anticonvulsivantes, posteriormente presenta náuseas, vómitos y regurgitación constantes, mostrando ansiedad, desesperación y agresividad. Al tercer día fue transferido a la Unidad de Gastroenterología de nuestra Institución, donde observamos lo descrito anteriormente y la presencia de sialorrea. Luego de superar las dificultades para llegar al diagnóstico por los problemas de comunicación y colaboración del paciente a pesar de contar con el apoyo de familiares, se decidió operarlo. La endoscopia mostró oclusión total a nivel de la UEG y la radiografía de tórax y abdomen, mostraron una gran imagen anormal con nivel hidroaéreo en casi la totalidad del hemitórax izquierdo. Los hallazgos intraoperatorios mostraron desplazamiento del estómago, bazo, parte de intestino delgado, colon ascendente, ciego, apéndice, y parte proximal del colon transverso hacia el hemitórax izquierdo. Se realizaron las correcciones quirúrgicas del caso. La evolución fue favorable. Sediscute la forma, manejo y edad tardía de presentación.

Bochdalek hernia is a congenital defect of the lateral posterior or vertebral lumbar region on the left side of diaphragm, caused by a foramen on it, through which viscera displaced from abdomen to pleural cavity. This is a pathology frequently observed in just born babies but rarely found in teenagers or adults. In world medical history only 100 cases in adults have been reported. We present a case of a 16 years old male patient with moderate mental retard who suddenly suffered from convulsions; this was the second time it happened, because the first time (3 months ago) he showed the same clinical picture but with no further complications. Anticonvulsives wereadministered to the patient in the general hospital E.R., but immediately after that, he had uncontrollable and frequent nausea, vomits and regurgitation when eating. He also showed anxiety, desperation and even aggressiveness. He was also very thirsty. Three days later the patient was transferred to the gastroenterology unit where we observed the symptoms above mentioned. He also presented sialorrhea. After many difficulties to find the diagnosis due to the patient’s problems to communicate even with his relatives help, we decided to perform a surgery. Endoscopy showed total occlusion of the gastric-esophagus connection and an abdomen and thorax X-r showed an abnormal image with hydro aerial level in nearly all left hemithorax. The surgical findings showed total displacement of stomach, spleen, part of the small intestine, ascending colon, cecum, appendix and proximal part of transverse colon tothe left hemithorax. Surgical corrections were performed. The clinical case resolved satisfactorily. The late age of the patient, type and treatment are discussed.

[Fryns syndrome: report of the first case in the national literature]. / Síndrome de Fryns: informe del primer caso en la literatura nacional.

The Fryns' syndrome is characterized by multiple congenital deformities such as cranio-facial anomalies, diaphragmatic hernia, pulmonary hypoplasia, distal anomalies of the extremities and diverse cardiovascular, digestive, urogenital and central nervous system malformations. Heredity trait is recessive-autosomic with variable expression. Mortality is the rule. Diagnosis must be suggested by early polyhydramnios, premature delivery, familial tendency and perinatal mortality. In the present paper, a case with the most significant features and with other features not previously described is reported.

Diaphragmatic hernia in tetrasomy 12p mosaicism.

Twelve infants with diaphragmatic hernias plus other anomalies who had mosaicism for tetrasomy isochromosome 12p (Pallister-Killian syndrome) are reviewed. A newborn infant with a diaphragmatic hernia plus dysmorphic features and a normal peripheral blood karyotype should have chromosome analysis performed on fibroblasts or bone marrow.