Hernia Diafragmatica Izquierda. Reporte de un caso / Left Diaphragmatic Hernia: A case report

Se presenta un caso clínico de diagnóstico ecográfico de hernia diafragmática realizado a partir de signos de sospecha. La paciente se presenta a control prenatal cursando 18 semanas de gestación, donde se visualiza alteración de la posición de la silueta cardiaca y cambios en la ecogenicidad en el campo pulmonar izquierdo. Se evalúan los signos pronósticos de las hernias diafragmáticas como la presencia de estómago e hígado en tórax y se calcula el índice pulmóncabeza ( LHR). En el presente caso el LHR arrojo un valor de 2,3 %, lo cual indica un buen pronóstico ya que el LHR mayor a 1,4 % se asocia a 93 % de posibilidades de sobrevivir

A clinical case of ultrasound diagnosis of diaphragmatic hernia performed from signs of suspicion is presented. The patient is presented to prenatal control studying 18 weeks gestation, where alteration of the position of the cardiac silhouette and changes in ecogenicity in the left pulmonary field is displayed. The prognostic signs of diaphragmatic hernias such as the presence of stomach and thorax liver and the lung-headed index (LHR) are evaluated. In the present case, the LHR shows a value of 2.3 %, which indicates a good prognosis since the LHR greater than 1.4 % is associated with 93 % possibilities to survive

Diaphragmatic hernia and unilateral renal agenesis in a crab-eating fox (Cerdocyon thous)

An approximately 3-month-old crab-eating fox (Cerdocyon thous) was found by environmental authorities in the State of Paraiba, Northeastern Brazil and referred to a wildlife care center. The fox was presenting respiratory distress and it was referred to the Veterinary Hospital of the Federal University of Paraiba (UFPB) for ancillary testing. Abdominal and thoracic ultrasound and radiographies were performed. These imaging tests indicated the fox had a possible diaphragmatic hernia and ectopic kidney. The imageology results were confirmed on necropsy, which revealed a postero-lateral focal discontinuity of the dorsal aspect of the diaphragmatic muscle with protrusion of the gastrointestinal tract into the thoracic cavity. The stomach and intestinal loops were filled with gas and obliterated the visualization of the heart and lungs. Additionally, only the right kidney was found, and no vestigial left kidney was identified. Congenital diaphragmatic hernias are not commonly observed in wildlife but should be considered as a potential differential diagnosis for acute onset of respiratory distress in young carnivores.(AU)

Diaphragmatic hernia and unilateral renal agenesis in a crab-eating fox (Cerdocyon thous)

An approximately 3-month-old crab-eating fox (Cerdocyon thous) was found by environmental authorities in the State of Paraiba, Northeastern Brazil and referred to a wildlife care center. The fox was presenting respiratory distress and it was referred to the Veterinary Hospital of the Federal University of Paraiba (UFPB) for ancillary testing. Abdominal and thoracic ultrasound and radiographies were performed. These imaging tests indicated the fox had a possible diaphragmatic hernia and ectopic kidney. The imageology results were confirmed on necropsy, which revealed a postero-lateral focal discontinuity of the dorsal aspect of the diaphragmatic muscle with protrusion of the gastrointestinal tract into the thoracic cavity. The stomach and intestinal loops were filled with gas and obliterated the visualization of the heart and lungs. Additionally, only the right kidney was found, and no vestigial left kidney was identified. Congenital diaphragmatic hernias are not commonly observed in wildlife but should be considered as a potential differential diagnosis for acute onset of respiratory distress in young carnivores.

Diagnosis and treatment of a peritoneopericardial hernia in an adult dog: a case report / Diagnóstico e tratamento de hérnia peritoniopericárdica em cão adulto: relato de caso

Peritoneopericardial diaphragmatic hernia is a common congenital pericardial anomaly in dogs and cats, characterized by a communication between the abdomen and the pericardial sac. Animals may be asymptomatic or show nonspecific clinical signs related to the gastrointestinal and cardiorespiratory systems. In this report, we present a case of a 3-year-old female Schnauzer, weighing 7,7 kg, with a history of easy fatigue and cyanosis triggered by stress. The diagnosis of peritoneopericardial diaphragmatic hernia was confirmed through echocardiography and simple and contrast radiography findings that showed the presence of hepatic lobes in the pericardial sac. The animal underwent supra-umbilical celiotomy to correct the hernia and subsequently presented immediate improvement of clinical signs.

A hérnia diafragmática peritoniopericárdica é uma anomalia congênita pericárdica comum em cães e gatos, sendo caracterizada pela comunicação entre abdômen e saco pericárdico. Os animais podem ser assintomáticos ou apresentar sinais clínicos inespecíficos relacionados aos sistemas gastrointestinal e cardiorrespiratório. Expõe-se um caso de um cão Schnauzer, fêmea, 3 anos de idade, pesando 7,7 kg, com histórico de cansaço fácil e cianose em momentos de estresse. O diagnóstico de hérnia peritoniopericárdica foi confirmado por meio de ecocardiografia e exame radiográfico simples e contrastado que evidenciaram a presença de lobos hepáticos no saco pericárdico. O animal foi submetido a celiotomia pré-umbilical para correção do defeito, apresentando melhora imediata dos sinais clínicos após a correção cirúrgica.

Diagnosis and treatment of a peritoneopericardial hernia in an adult dog: a case report / Diagnóstico e tratamento de hérnia peritoniopericárdica em cão adulto: relato de caso

Peritoneopericardial diaphragmatic hernia is a common congenital pericardial anomaly in dogs and cats, characterized by a communication between the abdomen and the pericardial sac. Animals may be asymptomatic or show nonspecific clinical signs related to the gastrointestinal and cardiorespiratory systems. In this report, we present a case of a 3-year-old female Schnauzer, weighing 7,7 kg, with a history of easy fatigue and cyanosis triggered by stress. The diagnosis of peritoneopericardial diaphragmatic hernia was confirmed through echocardiography and simple and contrast radiography findings that showed the presence of hepatic lobes in the pericardial sac. The animal underwent supra-umbilical celiotomy to correct the hernia and subsequently presented immediate improvement of clinical signs.(AU)

A hérnia diafragmática peritoniopericárdica é uma anomalia congênita pericárdica comum em cães e gatos, sendo caracterizada pela comunicação entre abdômen e saco pericárdico. Os animais podem ser assintomáticos ou apresentar sinais clínicos inespecíficos relacionados aos sistemas gastrointestinal e cardiorrespiratório. Expõe-se um caso de um cão Schnauzer, fêmea, 3 anos de idade, pesando 7,7 kg, com histórico de cansaço fácil e cianose em momentos de estresse. O diagnóstico de hérnia peritoniopericárdica foi confirmado por meio de ecocardiografia e exame radiográfico simples e contrastado que evidenciaram a presença de lobos hepáticos no saco pericárdico. O animal foi submetido a celiotomia pré-umbilical para correção do defeito, apresentando melhora imediata dos sinais clínicos após a correção cirúrgica.(AU)

Acute non-traumatic gastrothorax: presentation of a case with chest pain and atypical radiologic findings.

A previously well 71-year-old woman presented to the Emergency Department with acute-onset left-sided chest pain. She was haemodynamically stable with unremarkable systemic examination. Her electrocardiogram and troponin were within normal limits and her chest radiograph showed a raised left hemi-diaphragm. Two hours after admission, this woman became acutely breathless, and suffered a pulseless electrical activity cardiac arrest. After cardiopulmonary resuscitation, there was a return of spontaneous circulation and regained consciousness. A repeat clinical assessment revealed a new left-sided dullness to percussion with contralateral percussive resonance on respiratory examination. CXR revealed a left pan-hemi-thoracic opacity whilst better definition using CT-pulmonary angiography (CTPA) indicated an acute tension gastrothorax secondary to a large left-sided diaphragmatic hernia. Nasogastric (NG) tube insertion was used to decompress the stomach and the patient underwent uncomplicated emergency laparoscopic hernia reduction. She remained well at 1-year follow-up.

Una señora, previamente sana, de 71 años de edad acudió al departamento de emergencia con dolor agudo en el lado izquierdo del pecho. El examen físico no reveló hallazgos importantes y estaba hemodinámicamente estable. El electrocardiograma y la troponina estaban dentro de los límites normales, la radiografía de tórax mostró un diafragma elevado en el lado izquierdo. Dos horas después de ser admitida, esta señora empezó a respirar con dificultad y sufrió un paro cardíaco con actividad eléctrica sin pulso. Después de la reanimación cardiopulmonar, se evidenció el retorno de la circulación espontánea y la paciente recuperó la conciencia. Una segunda evaluación clínica del sistema respiratorio reveló a la percusión, disminución de la resonancia del lado izquierdo del tórax con hiperresonancia contralateral. La radiografía de tórax reveló una opacidad completa en el lado izquierdo del tórax y se obtuvo una mayor definición utilizando la angiografía pulmonar por tomografía computarizada, revelando un gastrotórax a tensión agudo causado por una hernia diafragmática. Se utilizó una sonda nasogástrica para descomprimir el estómago. La paciente se sometió a cirugía laparoscópica de emergencia para reducir la hernia sin complicaciones. Ella permaneció saludable durante un año de seguimiento.

Diagnóstico ecográfico de un feto con hernia diafragmática / Echographical diagnosis of a fetus with diaphragmatic hernia

Se presenta el caso clínico de una paciente de 25 años de edad con 21 semanas de gestación, remitida al Centro de Genética Municipal de Santiago de Cuba por presentar la alfafetoproteína alterada (G3A1P1). Se le realizó la ecografía indicada, donde se observó imagen ecolúcida a nivel del tórax en forma de masa, ausencia de estómago en el abdomen, polihidramnios y disminución de la circunferencia abdominal; por tanto, se remitió al Centro de Genética Provincial donde fue valorada por un equipo multidisciplinario que confirmó el diagnóstico de hernia diafragmática en el feto y, con el consentimiento de la pareja, se decidió la interrupción del embarazo.

The case report of a 25 years patient with a pregnancy of 21 weeks is presented, referred to the Genetics Municipal Center in Santiago de Cuba for presenting altered alpha-fetoprotein (G3A1P1). The prescribed echography was carried out, in which an echo lucid image was observed at the thorax level similar to a mass, stomach absence in the abdomen, polyhydramnioses and decrease of the abdominal circumference; therefore, she was transferred to the Provincial Center of Genetics where she was evaluated by a multidisciplinary team which confirmed the diagnosis of diaphragmatic hernia in the fetus and, with the couple's consent, the interruption of pregnancy was decided.

Diagnóstico retardado de hernia de Bochdalek. Presentación de caso / Delayed diagnosis of Bochdalek hernia. Case presentation

Fundamento: el defecto congénito en el cierre de la región posterolateral del diafragma se denomina hernia de Bochdalek y solo en el 10 % de los niños el diagnóstico se realiza después del primer mes de vida. Este defecto congénito permite que se desplacen las vísceras abdominales hacia el tórax, lo que a la vez puede ser la causa de una opacidad pulmonar persistente en la radiografía torácica. Objetivo: ilustrar, debido a su infrecuencia, el diagnóstico retardado de hernia de Bochdalek en una paciente con una opacidad pulmonar persistente. Presentación de caso: se describe el caso de una niña de once meses de edad, que ingresó por una opacidad pulmonar persistente en base pulmonar izquierda y signos clínicos de infección. Después de realizar tratamiento con antibióticos durante cinco días tuvo mejoría clínica pero persistía la imagen en la radiografía torácica. En la tomografía computarizada se observó el bazo localizado en el hemitórax izquierdo debido a una hernia de Bochdalek. Conclusiones: el diagnóstico de la hernia de Bochdalek fuera de la etapa de recién nacido es infrecuente, sin embargo esta enfermedad debe tenerse en cuenta en todo paciente con una opacidad pulmonar persistente aun cuando su edad sobrepase la etapa neonatal.

Background: congenital defect in the closure of the posterolateral region of the diaphragm is called Bochdalek hernia and only in 10 % of children the diagnosis is made after the first month of life. This birth defect allows abdominal organs to move into the chest, which in turn can be the cause of persistent pulmonary opacity on chest radiography. Objective: to illustrate the delayed diagnosis of Bochdalek hernia in a patient with a persistent pulmonary opacity, as it is an infrequent case. Case presentation: the case of an eleven months old girl, who was admitted for a left lung base pulmonary opacity and persistent clinical signs of infection is described. The patient had clinical improvement after completing treatment with antibiotics for five days but the image persisted on chest radiography. Computed tomography showed the spleen in the left hemithorax due to Bochdalek hernia. Conclusions: the diagnosis of Bochdalek hernia out of the newborn stage is rare, however this disease should be considered in all patients with persistent pulmonary opacity even when their age exceeds the neonatal stage.

Transdiaphragmatic intercostal hernia: imaging aspects in three cases.

Transdiaphragmatic intercostal hernia is uncommon and mostly related to blunt or penetrating trauma. We report three similar cases of cough-induced transdiaphragmatic intercostal hernia, highlighting the anatomic findings obtained with different imaging modalities (radiography, ultrasonography, CT, and magnetic resonance) in each of the cases.

Transdiaphragmatic intercostal hernia: imaging aspects in three cases / Hernia intercostal transdiafragmatica: aspectos de imagem em tres casos

Transdiaphragmatic intercostal hernia is uncommon and mostly related to blunt or penetrating trauma. We report three similar cases of cough-induced transdiaphragmatic intercostal hernia, highlighting the anatomic findings obtained with different imaging modalities (radiography, ultrasonography, CT, and magnetic resonance) in each of the cases.

Hérnias intercostais transdiafragmáticas são eventos raros e são geralmente relacionadas a traumas abertos ou fechados, com risco de complicações. Relatamos três casos semelhantes, decorrentes de crises de tosse, destacando o aspecto das alterações anatômicas nos exames de imagem obtidos em cada situação (radiografia, ultrassonografia, TC e ressonância magnética).

Hérnia diafragmática traumática em cão / Traumatic diaphragmatic hernia in dog

A forma mais comum de hérnia diafragmática em cães e gatos é a traumática e ocorre quando a continuidade do diafragma é rompida, dessa forma, órgãos abdominais podem migrar para o interior da cavidade torácica. Acidente automobilístico, chutes, quedas e brigas estão entre as causas mais comuns deste tipo de hérnia. O sinal clínico predominante em pacientes acometidos é a dispneia, por diminuição no volume corrente, podendo o animal, posicionar-se sentado com os cotovelos em abdução e abdômen contraído. O diagnóstico definitivo é conseguido por radiografia e o tratamento do defeito diafragmático é exclusivamente cirúrgico. O objetivo deste trabalho é relatar o caso de um canino mestiço, macho, com cinco anos de idade e 11kg com intensa dispneia e queixa principal de trauma automobilístico feito pelo próprio proprietário, cujo exame radiográfico diagnosticou hérnia diafragmática solucionada mediante procedimento cirúrgico com menos de 24 horas do acidente.

The most common form of diaphragmatic hernia in dogs and cats is traumatic and occurs when the continuity of the diaphragm is ruptured thereby abdominal organs can migrate into the thoracic cavity.Automobile accident, kicks, falls and fights are among the most common causes of this type of hernia.The predominant clinical sign in affected patients is dyspnea by decreasing the tidal volume, allowing the animal to position them selves sitting with elbows abducted and abs contracted. Definitive diagnosis is achieved by radiographic and treatment of diaphragmatic defect is exclusively surgical. The objective of this study is to report the case of a canine mestizo male with five years of age and 11kg with severe dyspnea and chief complaint of trauma automobile made by the owner, whose radiographic examination revealed diaphragmatic hernia resolved by surgical procedure under 24 hours of the accident.

Hérnia diafragmática traumática em cão / Traumatic diaphragmatic hernia in dog

A forma mais comum de hérnia diafragmática em cães e gatos é a traumática e ocorre quando a continuidade do diafragma é rompida, dessa forma, órgãos abdominais podem migrar para o interior da cavidade torácica. Acidente automobilístico, chutes, quedas e brigas estão entre as causas mais comuns deste tipo de hérnia. O sinal clínico predominante em pacientes acometidos é a dispneia, por diminuição no volume corrente, podendo o animal, posicionar-se sentado com os cotovelos em abdução e abdômen contraído. O diagnóstico definitivo é conseguido por radiografia e o tratamento do defeito diafragmático é exclusivamente cirúrgico. O objetivo deste trabalho é relatar o caso de um canino mestiço, macho, com cinco anos de idade e 11kg com intensa dispneia e queixa principal de trauma automobilístico feito pelo próprio proprietário, cujo exame radiográfico diagnosticou hérnia diafragmática solucionada mediante procedimento cirúrgico com menos de 24 horas do acidente.AU

The most common form of diaphragmatic hernia in dogs and cats is traumatic and occurs when the continuity of the diaphragm is ruptured thereby abdominal organs can migrate into the thoracic cavity.Automobile accident, kicks, falls and fights are among the most common causes of this type of hernia.The predominant clinical sign in affected patients is dyspnea by decreasing the tidal volume, allowing the animal to position them selves sitting with elbows abducted and abs contracted. Definitive diagnosis is achieved by radiographic and treatment of diaphragmatic defect is exclusively surgical. The objective of this study is to report the case of a canine mestizo male with five years of age and 11kg with severe dyspnea and chief complaint of trauma automobile made by the owner, whose radiographic examination revealed diaphragmatic hernia resolved by surgical procedure under 24 hours of the accident.AU

Hérnia diafragmática congênita simulando derrame pleural: relato de caso / Congenital diaphragmatic hernia simulating pleural effusion: case report

JUSTIFICATIVA E OBJETIVOS: A hérnia diafragmática congênita de Bochdalek se constitui um defeito na posição póstero-lateral do diafragma, ocorrendo normalmente na infância, sendo causa importante de hipoplasia pulmonar. Em adultos, é uma ocorrência rara, com pouco mais de 100 casos descritos. Os adultos comumente são assintomáticos, podendo apresentar sintomas gastrointestinais e raramente, sintomas respiratórios inespecíficos. O objetivo deste estudo foi relatar uma apresentação tardia de hérnia de Bochdalek em um adulto com sintomatologia respiratória. RELATO DO CASO: Paciente do sexo masculino, 30 anos, com queixa de dispneia de longa data, que teve o seu diagnóstico realizado após apresentar um quadro similar a um derrame pleural. CONCLUSÃO: Devido à raridade das hérnias diafragmáticas congênitas em adultos, é necessário raciocínio clínico, técnico e tático diferenciado por parte do médico clínico, o que pode evitar graves complicações como pneumotórax e necrose intestinal.

BACKGROUND AND OBJECTIVES: Bochdalek congenital diaphragmatic hernia constitutes a defect in the posterolateral position of the diaphragm, usually occurring in childhood and being an important cause of pulmonary hypoplasia. In adults,it is a rare occurrence, with little more than 100 cases reported. Adults are usually asymptomatic but gastrointestinal symptoms and, rarely, nonspecific respiratory symptoms, can occur. This study aimed at reporting a late presentation of Bochdalek herniain adult patient with respiratory symptoms. CASE REPORT: Male patient, 30-year-old with a complaint of long-standing dyspnea, who had the diagnosis made after presenting a clinical picture similar to a pleural effusion. CONCLUSION: Since the occurrence of congenital diaphragmatic hernias in adults is very rare, the clinician needs clinical,technical and tactical reasoning, in order to prevent serious complications such as pneumothorax and intestinal necrosis.

Clinical characteristics and outcomes of patients with cardiac defects and congenital diaphragmatic hernia.

OBJECTIVE: To evaluate the impact of associated heart defects on outcomes to discharge, and identify factors affecting survival of all infants born with congenital diaphragmatic hernia (CDH) in last decade using Congenital Diaphragmatic Hernia Study Group data. STUDY DESIGN: This was a retrospective review of all infants with CDH enrolled in Congenital Diaphragmatic Hernia Study Group database from January 2000 to December 2010. The study cohort was divided into 3 groups (GRP): GRP 1, CDH with major heart defects; GRP 2, CDH with minor heart defects; and GRP 3, CDH with no reported heart defects. RESULTS: The 4268 enrolled infants included 345 (8%) in GRP 1, 412 (10%) in GRP 2, and 3511 (82%) in GRP 3. Survival was significantly lower in GRP 1 compared with GRP 2 and GRP 3 (36% vs 73%). In GRP 1, the most common defects were left heart obstructive lesions (34%). Survival was lowest in infants with transposition of great arteries (0%) and single ventricle physiology (16%). There was no change in survival rate for any group between 2000-2005 and 2006-2010. In GRP 1, factors that predicted lower survival were birth weight <2.5 kg, associated noncardiac anomalies, single ventricle physiology, no sildenafil therapy, no CDH repair, and no cardiac repair. CONCLUSION: Survival is significantly lower in patients with CDH and major heart defects compared with patients with minor or no heart defects. Outcomes of newborns with CDH and major heart defects have not improved over the last decade.

Evaluación por imágenes del diafragma en el niño / Image evaluation of diaphragm in children

The anatomy, embriology andfunctions of the neonate 's diaphragm, as well as its anatomical and functional oddities were reviewed. And, in a deeper way, imaging studies were also reviewed; these have an important role in functional and anatomic evaluation of the diaphragm, each one with its own advantages and limitations. Chest X-rays allow an anatomic two dimensional evaluation of the diaphragm and constitutes the first approach in the study of diaphragm pathology in children; hence, the normal anatomy and the most common pathological signs are reviewed. Digestive tube studies using contrast media still are the best choice for diagnosis of hiatal hernia and of herniation through the foramen of Morgagni, where the colon is ascended. Ultrasound use is highlighted for the evaluation of diaphragmatic motility, as well as some of its advantages over fluoroscopy, which is and has been the method of choice in the diagnosis of diaphragmatic paralysis in children. Multiplanar images are the most complete method for the anatomic evaluation of the diaphragm, since they show its spatial orientation and allow the detailed evaluation of those pahologies where the anatomy is altered, such as diaphragmatic hernias, trauma and tumors.

Revisamos la embriología, anatomía y funciones del diafragma, sus particularidades anatómicas y funcionales en los neonatos y, en forma más profunda, los estudios por imágenes, que en la actualidad tienen un importante rol en su evaluación anatómica y funcional, cada uno de ellos con sus ventajas y limitaciones. La radiografía de tóraxpermite una evaluación anatómica en dos planos del diafragma y constituye la primera aproximación en el estudio de la patología del diafragma en los niños, por lo que se describe la anatomía normal y los signos de las patologías más frecuentes. Los estudios contrastados del tubo digestivo siguen siendo de elección para el estudio de las hernias hiatales y hernias de Morgagni en donde está ascendido el colon. Destacamos el uso del ultrasonido en la evaluación de la motilidad diafragmática, y algunas de sus ventajas sobre la fluoroscopia, que es y ha sido el método de elección en el diagnóstico de la parálisis diafragmática en los niños. Las imágenes multiplanares son un método más completo en la evaluación anatómica del diafragma, muestran mejor su orientación espacial y permiten la evaluación detallada de las patologías donde la anatomía está alterada, como hernias diafragmáticas congénitas, trauma y tumores.

[Jarcho-Levin syndrome associated with maternal hypothyroidism]. / Síndrome de Jarcho-Levin: Caso asociado con hipotiroidismo materno.

BACKGROUND: Jarcho Levin syndrome is an eponymous syndrome consisting with a set of multiple vertebral and rib anomalies, characterized by a short neck, short trunk and short height, which trigger respiratory failure and early neonatal death. The frequency and spectrum of morphological defects in the environment is unknown. This article reports a case. CASE REPORT: a female newborn, product of the third pregnancy in a woman of 29 years, with a history of three previous miscarriages; she had a twin pregnancy and hypothyroidism later. Prenatal ultrasound performed at 28-29 weeks of gestation showed polyhydramnios, mild duodenal atresia, likely annular pancreas, and agenesis of lumbar vertebrae. At birth, turreted skull, short neck, thoracoabdominal dissociation, anal stenosis, hypotrophic external genitalia, hypoplastic pelvic limbs, and popliteal hyperflexion were found. Imaging identified intestinal atresia, scoliosis, lumbar vertebrae agenesis, and defects of segmentation on fourth and fifth right ribs. Laparotomy confirmed malrotation of the small intestine and colon, and complete annular pancreas with Meckel diverticulum. CONCLUSIONS: this syndrome is a set of phenotypes derived from skeletal malformations and other defects. The outcome depends on the severity and quality.

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.

Hérnia diafragmática congênita: revisão da literatura e relato de casos / Congenital diaphragmatic hernia: a literature review and case reports

A hérnia diafragmática congênita, tipicamente se apresenta na infância, no período neonatal imediato ou mais tardiamente em lactentes ou pré escolares, mas pode ser raramente detectada em adultos...Atualmente, com o advento de imagens digitais o diagnóstico precoce, até mesmo pré-natal, da hérnia diafragmática congênita tem contribuído para melhorar a morbidade e reduzir a mortalidade. O objetivo deste trabalho monográfico é fazer uma breve revisão bibliográfica sobre o tema em questão, revisando livros e artigos sobre o tema e descrevendo o mesmo de forma sucinta para então correlacioná-lo com os casos clínicos acompanhados no ambulatório de pediatria e pneumologia pediátrica do Hospital Universitário Antônio Pedro (HUAP).