Online Exclusives
Intra-thoracic appendicitis in a child with Down’s syndrome
Morgagni congenital diaphragmatic hernias are rare. They are associated with chromosomal anomalies, especially Down’s syndrome. Acute appendicitis is the most common surgical emergency in childhood, but accurate diagnosis can be a challenge if encountered out of the usual anatomical position. This is the first case report of acute appendicitis within a Morgagni hernia in a child with Down’s syndrome.Hepatic mesenchymal hamartoma in a neonate with a Bochdalek diaphragmatic hernia: A case report
The Bochdalek diaphragmatic hernia (BDH) is a common birth defect that is associated with other congenital malformations. Hepatic mesenchymal hamartoma (HMH) is the second most common benign hepatic tumor in children. The association between BDH and HMH or ectopic hepatic tissue is uncommon. We report a case of a female newborn with a left BDH that at surgery was incidentally found to have a tumor of 3.5 cm in maximum dimension with a serous muscular membrane. The histopathological study revealed vascular–mesenchymal stroma with bile ducts entrapped and peripheral normal hepatic tissue.Bronchomegaly as a complication of fetal endoscopic tracheal occlusion. A caution and a possible solution
Fetal medicine is developing rapidly and aims to improve the outcome for fetuses with congenital anomalies. Fetal endoscopic tracheal occlusion (FETO) has been developed for fetuses with congenital diaphragmatic hernia to counterbalance the compression of the lung by the abdominal viscera, preserving the pulmonary maturation. Because the perinatal morbidity and mortality of patients treated with FETO have decreased, new complications are emerging in the older survivors. Tracheomegaly has been reported to be a late complication of FETO, sometimes requiring tracheostomy.Terlipressin as rescue therapy for refractory pulmonary hypertension in a neonate with a congenital diaphragmatic hernia
We report the case of a 38-week gestational age neonate, with isolated congenital diaphragmatic hernia presenting with refractory persistent pulmonary hypertension, systemic hypotension, and hypoxemia, resistant to usual therapeutics. Arginine vasopressin is responsible for systemic vasoconstriction and decreases pulmonary hypertension. We theorized that terlipressin, its long-acting analogue, could have the same properties. We used terlipressin as rescue therapy after parental and local ethics committee acceptance.Right congenital diaphragmatic hernia associated with anorectal malformation
We describe a neonate in whom a right congenital diaphragmatic hernia and an anorectal malformation coexisted. Their coexistence in the same patient is rare.A unique case of a congenital diaphragmatic hernia in a boy with albinism
Congenital diaphragmatic hernia and oculocutaneous albinism are both rare birth defects that can be diagnosed in the newborn period. However, they have not been previously reported to have occurred together. This report describes a unique case of a male Asian baby with oculocutaneous albinism and a right-sided congenital diaphragmatic hernia.Delayed presentation of congenital diaphragmatic hernia manifesting as combined-type acute gastric volvulus: a case report and review of the literature
Acute gastric volvulus associated with congenital diaphragmatic hernia is an unusual surgical emergency. We describe a case of an 11-year-old girl who presented with a 4-day history of abdominal pain, nonproductive retching, cough, and shortness of breath. A chest radiograph revealed a large air-fluid level in left hemithorax and the presence of intestinal loops with marked mediastinal deviation. Nasogastric decompression was unsuccessful. Via a thoracoscopic approach, the large fluid-filled stomach was percutaneously decompressed but could not be reduced.Esophageal adenocarcinoma: a long-term complication of congenital diaphragmatic hernia?
A 22-year-old man presented with a lower esophageal adenocarcinoma having been treated for a left-sided congenital diaphragmatic hernia (CDH) as a neonate. There is no known association or similar case reported in the literature. We review the known long-term sequelae of CDH, possible theories for the occurrence of adenocarcinoma, and its implications for follow-up of patients with CDH.Right congenital diaphragmatic hernia associated with fusion of the liver and the lung
We present the case of a male infant at a gestational age of 41 weeks who presented with a right congenital diaphragmatic hernia. During surgical exploration, right hepatopulmonary fusion was encountered. We review the existing literature on this problem, describe a novel surgical approach, and review the embryology of this complex lesion.Prevention of heart failure in the management of congenital diaphragmatic hernia by maintaining ductal patency. A case report
Congenital diaphragmatic hernia is a rare entity in childhood carrying a high mortality rate of 30% to 50%. Ipsilateral pulmonary hypoplasia, increased pulmonary vascular resistance, and potential cardiac failure complicate early postnatal life. Surgical correction can either be performed on the first day of life or be deferred to a time after stabilization of the infant. Our patient presented with a left-sided Bochdalek's hernia containing large and small bowel. She required intubation and resuscitation on day 1 of life, and surgical repair had to be postponed.Endobronchial migration of prosthetic patch after congenital diaphragmatic hernia repair
Surgical repair of congenital diaphragmatic hernia (CDH) can be performed by means of either direct suturing of the diaphragm or positioning of a prosthetic patch. However, half of all prosthetic patches show evidence of reherniation. We describe the case of an 8-year-old girl who presented with prosthesis dislocation and fistulization in the right lower bronchus as a complication of a CDH repair that she underwent when she was 1 year old. Abdominal ultrasound and magnetic resonance imaging suggested a hernia relapse, whereas chest computed tomographic scan failed to identify the diaphragmatic defect.Congenital diaphragmatic hernia in a patient with tetrasomy 9p
Tetrasomy of the short arm of chromosome 9 constitutes a rare condition resulting in a well clinically recognized syndrome. In our case, in addition to the characteristic phenotype at birth, the existence of a hernia-type Bochdalek diaphragmatic defect was found. Cytogenetic analysis revealed a nonmosaic case of an isochromosome of the entire short arm of chromosome 9 with no involvement of the heterochromatic region of the long arm: 47, XX, +i (9p). Because chromosome 9 contains several gene locus for enzymes and receptors of the retinoid pathway, this case potentially contributes to retinoid hypothesis in the etiology of congenital diaphragmatic hernia.Hidden pathologies associated with (and concealed by) early gestational isolated fetal hydrothorax
Isolated fetal hydrothorax is an uncommon finding on routine prenatal ultrasound and is associated with a variable prognosis. We believe this is the first report of a patient whose antenatal hydrothorax was associated with both congenital diaphragmatic hernia and congenital pulmonary lymphangiectasia. This rare combination caused significant problems in diagnosis and subsequent treatment.Congenital diaphragmatic hernia associated with aplasia of left lobe of the liver
A case of left-sided diaphragmatic hernia associated with congenital aplasia/agenesis of the left lobe (left lateral segment) of the liver is reported. This association of defects, to the best of the authors’ knowledge, has not been reported previously.
