Congenital hiatal hernia segregating with a duplication in 9q22.31q22.32 in two families.

Congenital hiatal hernia (HH) is a rare congenital defect and is often described on a sporadic basis, but familial cases have also been reported. The mechanism of development is not well understood, and to our knowledge no specific genetic factors have been implicated to date. We report on seven individuals from two families with 9q22 duplication, who have variably associated features including congenital HH in four individuals. One family had an 1.09 Mb 9q22 duplication, and the other family had an overlapping 2.73 Mb 9q22 duplication. We review the genes in this region and discuss BARX1 (BarH-like homeobox gene 1) as a gene of interest.

Congenital mixed giant hiatal hernia in a four-month-old infant. / Hernia hiatal mixta congénita gigante en lactante de cuatro meses.

INTRODUCTION: Congenital hiatal hernia is a rare pathology, presenting at 28 months of age on average. Paraesophageal/mixed hernias cause recurrent respiratory infections, vomiting, anemia, and growth failure. CLINICAL CASE: Four-month-old infant, with irritability since birth and partial feeding intolerance in the last 24 hours. A partial intrathoracic stomach was evidenced in the esophago-gastro-duodenal contrast study. A thoraco-abdominal CT scan was carried out, with giant mixed hiatal hernia, right posterolateral diaphragmatic hernia, and congenital short esophagus being considered as potential diagnoses. A giant mixed hiatal hernia was noted during surgery. Laparoscopic herniorrhaphy and Nissen fundoplication were performed. DISCUSSION: In the pediatric population, Bochdalek's hernia and Morgagni's hernia are the most frequent congenital diaphragmatic hernias. Hiatal hernia is rare and causes gastrointestinal symptoms more frequently. Surgery is the treatment of choice, with the objective of preventing or minimizing these symptoms as well as gastric volvulus.

INTRODUCCION: La hernia hiatal congénita es poco frecuente, con una edad media de presentación a los 28 meses de vida. Las hernias paraesofágicas/mixtas provocan más frecuentemente infecciones respiratorias repetitivas, vómitos, anemia y fallo de medro. CASO CLINICO: Nos encontramos ante un lactante de 4 meses que presenta irritabilidad desde el nacimiento y rechazo parcial de las tomas en las últimas 24 horas. En el tránsito esófago-gastro-duodenal se evidencia un estómago parcialmente intratorácico. Tras realizarse una tomografía computarizada toraco-abdominal, se plantean como diagnósticos hernia hiatal mixta gigante vs. hernia diafragmática posterolateral derecha vs. esófago corto congénito. Intraoperatoriamente se visualiza hernia hiatal mixta gigante, realizándose herniorrafia laparoscópica y funduplicatura de Nissen. COMENTARIOS: Las hernias con afectación diafragmática más frecuentes en Pediatría son la hernia de Bochdalek y de Morgagni. La hernia hiatal produce más frecuentemente síntomas gastrointestinales; así, el tratamiento es quirúrgico, con el objetivo de evitar o minimizar dichos síntomas y prevenir las consecuencias de la volvulación gástrica.

Hernia hiatal mixta congénita gigante en lactante de cuatro meses / Congenital mixed giant hiatal hernia in a four-month-old infant

Introducción: La hernia hiatal congénita es poco frecuente, con una edad media de presentación a los 28 meses de vida. Las hernias paraesofágicas/mixtas provocan más frecuentemente infecciones respiratorias repetitivas, vómitos, anemia y fallo de medro. Caso clínico: Nos encontramos ante un lactante de 4 meses que presenta irritabilidad desde el nacimiento y rechazo parcial de las tomas en las últimas 24 horas. En el tránsito esófago-gastro-duodenal se evidencia un estómago parcialmente intratorácico. Tras realizarse una tomografía computarizada toraco-abdominal, se plantean como diagnósticos hernia hiatal mixta gigante vs. hernia diafragmática posterolateral derecha vs. esófago corto congénito. Intraoperatoriamente se visualiza hernia hiatal mixta gigante, realizándose herniorrafia laparoscópica y funduplicatura de Nissen. Comentarios: Las hernias con afectación diafragmática más frecuentes en Pediatría son la hernia de Bochdalek y de Morgagni. La hernia hiatal produce más frecuentemente síntomas gastrointestinales; así, el tratamiento es quirúrgico, con el objetivo de evitar o minimizar dichos síntomas y prevenir las consecuencias de la volvulación gástrica

Introduction: Congenital hiatal hernia is a rare pathology, presenting at 28 months of age on average. Paraesophageal/mixed hernias cause recurrent respiratory infections, vomiting, anemia, and growth failure. Clinical case: Four-month-old infant, with irritability since birth and partial feeding intolerance in the last 24 hours. A partial intratho-racic stomach was evidenced in the esophago-gastro-duodenal contrast study. A thoraco-abdominal CT scan was carried out, with giant mixed hiatal hernia, right posterolateral diaphragmatic hernia, and congenital short esophagus being considered as potential diagnoses. A giant mixed hiatal hernia was noted during surgery. Laparoscopic herniorrhaphy and Nissen fundoplication were performed. Discussion: In the pediatric population, Bochdalek's hernia and Morgagni's hernia are the most frequent congenital diaphragmatic hernias. Hiatal hernia is rare and causes gastrointestinal symptoms more frequently. Surgery is the treatment of choice, with the objective of preventing or minimizing these symptoms as well as gastric volvulus

Congenital intrathoracic stomach can be safely managed laparoscopically.

PURPOSE: Congenital intrathoracic stomach (CIS) is an uncommon pediatric surgical diagnosis where > 2/3rd of the stomach lies within the chest through a hiatus defect. We reviewed our recent experience with this condition. METHODS: A retrospective single-center review of children with a diagnosis of CIS (2007-2018) was performed. Patient demographics, presentation, imaging and management were assessed. Results are expressed as median (range). RESULTS: Eleven patients (6 girls) were identified with onset of symptoms at 2 (0-26) months of age. Presenting symptoms were vomiting (8/11), respiratory symptoms (4/11) and failure to thrive (2/11). Two patients had Marfan's syndrome. An upper gastrointestinal contrast study demonstrated gastric herniation in all. All were corrected laparoscopically with hiatus repair and fundoplication [age at surgery 10.5 (1.5-34.5) months]. A concurrent gastrostomy was done in children ≤ 6 months (n = 5). Enteral feeds were commenced on post-operative day one in 9 and second post-operative day in 2. At 7 (0-95) months follow-up, all were on full enteral feeds. One patient had a recurrence 6 months post-operatively, which was re-operated laparoscopically without any further recurrence. CONCLUSION: This is the largest reported series of children with CIS. All could be managed laparoscopically with no conversions and a low recurrence.

Congenital Paraesophageal Hernia in a Cat.

A 3 mo old male domestic shorthair weighing 2 kg was presented for acute onset of anorexia, lethargy, paradoxical breathing, and a palpable mass effect in the cranial abdomen. Initial diagnostics and imaging suggested a pleuroperitoneal or hiatal hernia. Emergency abdominal exploration was performed, and a complex type II paraesophageal hiatal hernia was identified. The entire stomach, greater and lesser omenta, spleen, left limb of the pancreas, and the proximal segment of the descending duodenum were herniated through a discrete defect in the phrenicoesophageal ligament. After reduction of the herniated organs back into the abdomen, a phrenicoplasty, esophagopexy, and left-sided fundic gastropexy were performed. The cat recovered uneventfully from the procedure and was free of any signs of disease for at least 30 mo postoperatively. This is the first detailed report of the findings and successful surgical treatment of a complex congenital, type II paraesophageal hiatal hernia with complete herniation of the stomach, omenta, and spleen in a cat.

Radiographic confirmation of feeding tube placement: a diagnostic tool identifying gastrointestinal anomalies.

Feeding tubes are commonly used in neonatal intensive care units, and their abnormal position seen on radiographs may indicate underlying serious problems. We recently cared for two infants who presented with clinical deterioration. An abnormally placed feeding tube seen on the chest radiograph revealed underlying serious conditions. The first case was an infant 29 weeks of age who presented with right-sided pneumothorax after birth. By history and a right-side-displaced orogastric (OG) tube, iatrogenic esophageal perforation was diagnosed. The second case was a 16-day-old infant who presented with recurrent vomiting. An OG tube extending into a cystic mass at the right cardiophrenic angle resulted in diagnosis of a herniated stomach with organoaxial-type volvulus, which required surgical repair. Both cases recovered uneventfully. As illustrated in these two rare cases, feeding tube position is not only important for feeding practice, but it also has diagnostic implications in newborn infants.

Twenty-five-year survival of children with birth defects in New York State: a population-based study.

BACKGROUND: Few studies have been conducted on long-term survival of children with major birth defects because of a lack of longitudinal birth defects surveillance data. The objective of this study was to conduct a 25-year survival analysis among children in New York born with major defects by survival age, birth defect category, and other possible contributing factors. METHODS: A cohort was constructed containing children born in 1983 to 2006 with selected major birth defects. Deaths among the study cohort were identified by matching the children to their death certificates. The survival probability was estimated by Kaplan-Meier methods. Cox proportional hazards regression was used to examine the effect of the risk factors on survival. RESULTS: A total of 9112 deaths were identified among 57,002 live births with selected birth defects between 1983 and 2006. The overall 25-year survival probability of the study cohort was 82.51% (95% confidence interval, 82.11-82.89%). The estimated survival probability was comparable to that reported from previous studies regarding individual defects including spina bifida, encephalocele, atrioventricular septal defects, tracheoesophageal fistula and esophageal atresia or stenosis, renal agenesis or dysgenesis, lower limb reduction, diaphragmatic hernia, abdominal wall defects, and Down syndrome. Sex, low birth weight for gestational age, existence of multiple birth defects (nonisolated), and maternal age and nativity were identified as risk factors. CONCLUSION: Using the statewide, population-based birth defects surveillance data in New York State, the survival experience of the study cohort was examined across all survival time periods by individual birth defect of interest. Several risk factors that affect survival were identified.

Laparoscopic treatment of type III para-oesophageal hernia.

Type III congenital para-oesophageal hernia is a rare condition in children and is characterised by the herniation of both a substantial portion of the stomach and the gastro-oesophageal junction into the chest. This report describes the laparoscopic repair of 4 para-oesophageal hernias in children between 2002 and 2010. All hernias were treated successfully using the laparoscopic method. There were no recurrences. The laparoscopic repair of a para-oesophageal hernia is technically challenging, but is feasible and safe in the hands of paediatric surgeons familiar with laparoscopic anti-reflux surgery.

[Diaphragmatic hernia or hiatus hernia: a diagnostic problem in 5-month-old infant]. / Congenitalis rekeszsérv vagy hiatus hernia: diagnosztikus problémák öt hónapos csecsemoben.

Authors present a case of a 5-month-old infant, in whom following an uneventful perinatal adaptation, symptoms of recurrent respiratory infections, vomiting and growth failure developed. Based on chest X-ray, right-sided diaphragmatic hernia was suspected. However, barium swallow examination delineated the stomach above the right diaphragm. The case report draws attention to the differential diagnostic difficulties between congenital diaphragmatic and hiatal hernia.

Gastric dissociation for the treatment of congenital microgastria with paraesophageal hiatal hernia.

Microgastria is a rare but well-described congenital anomaly of the alimentary tract that presents in the neonatal period with vomiting, aspiration, and failure to thrive. Based on a relatively small number of case reports, gastric augmentation with a double-barrel loop of jejunum, known as a Hunt-Lawrence pouch, has been advocated as the reconstructive procedure of choice in affected children who fail nonoperative management. In this report, we present a novel method of foregut reconstruction in an infant with congenital microgastria and a paraesophageal hiatal hernia. In this procedure, the stomach was transected 1 cm below the gastroesophageal junction with construction of a straight Roux-en-Y jejunal anastomosis to the gastric fundic cuff. A feeding gastrostomy tube was placed into the distal remnant stomach for enteral access. The patient did well and eventually transitioned to full oral feeds by 3 years of age.

Laparoscopic management of neonatal paraesophageal hernia with intrathoracic gastric volvulus.

Intrathoracic gastric volvulus associated with neonatal paraesophageal hernia is very rare in the newborn period. We report a case of a 3-week-old term infant who presented to the hospital with a history of non-bilious vomiting. Workup for hypertrophic pyloric stenosis eventually revealed the presence of a congenital hiatal hernia and intrathoracic gastric volvulus requiring urgent surgical management. The infant underwent successful laparoscopic repair. We discuss the diagnosis and management of this extremely rare surgical cause of neonatal nonbilious emesis.

Robotic repair of congenital paraesophageal hiatal hernia.

Congenital paraesophageal hiatal hernias are rare and can be associated with gastric incarceration, volvulus,mucosal ulceration, and anemia. Primary repair of the hernia and fundoplication are recommended. In this paper,we report a case of a 3-year-old child with abdominal pain who was noted to have a paraesophageal hiatal hernia with partial gastric volvulus. A 5 mm robot platform was utilized to facilitate hernia sac dissection,hiatal repair, and fundoplication.

Congenital para esophageal hernia: a 10 year experience from Saudi Arabia.

OBJECTIVE: Para esophageal hiatal hernia is a rare childhood condition and reported series have had scant number of children which makes diagnosis a challenge. The authors sought to study the presentation and the outcome of treatment of congenital para esophageal hernias (CPEH) over a period of 10 years from a single tertiary care hospital in Saudi Arabia. METHODS: The records of 9 patients presenting between 1997 and 2007, were retrospectively analyzed for demographics, presenting features, referral diagnoses, investigations, management including operative procedures, their outcome and follow-up. RESULTS: Nine patients (3 males and 6 females) aged between 8 days to 34 months were seen. Respiratory distress (n=6), vomiting (n=5) and frequent respiratory tract infections (n=3) were the most common presentations. Cyanosis (n=2), cough and excessive crying were the other important symptoms. The referral diagnoses in these patients included congenital Bochdalek's hernias, lung abscess, bronchogenic cyst, pneumatocoele, bronchiolitis, and pneumonias which reflected a misinterpretation of their clinical findings and chest X-rays. Seven of these patients had other associated congenital anomalies. Three had cardiovascular abnormalities and 2 had lesions of the central nervous system. A pair of siblings had Marfan's syndrome. All the patients had abnormal chest C-rays and an UGS (upper GI series) proved to be diagnostic in 8 patients. The CT scans done in 4 patients corroborated the findings of the UGS. A laparotomy was done on most patients (n=8) which comprised of reduction of the stomach, resection of the hernial sac, tightening of the hiatus and a gastropexy or a gastrostomy. One patient, who underwent thoracotomy died of surgical complications. Two others died of causes unrelated to the surgery. The remaining six operated patients have been followed up for a median of 3.5 years and are doing well. CONCLUSION: CPEH is uncommon in children, presented with respiratory tract symptoms and vomiting, and may be associated with Martan's syndrome. It should be considered in the workup of a child with vomiting or frequent chest infections. Abnormal chest X-rays may indicate the diagnosis and a subsequent UGS, is confirmatory. The present study found the aparotomya good approach for repair of the wide hiatus. A gastropexy and a floppy fundoplication were added to prevent reherniation and post operative reflux though given the small numbers it is not possible to determine the place of either of these procedures. CPEH may be frequently associated with other congenital problems which may impact survival.