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BJS Open May 2024In recent decades, the survival of children with congenital anomalies and paediatric cancer has improved dramatically such that there has been a steady shift towards... (Review)
Review
BACKGROUND
In recent decades, the survival of children with congenital anomalies and paediatric cancer has improved dramatically such that there has been a steady shift towards understanding their lifelong health outcomes. Paediatric surgeons will actively manage such conditions in childhood and adolescence, however, adult surgeons must later care for these 'grown-ups' in adulthood. This article aims to highlight some of those rare disorders encountered by paediatric surgeons requiring long-term follow-up, their management in childhood and their survivorship impact, in order that the adult specialist may be better equipped with skills and knowledge to manage these patients into adulthood.
METHODS
A comprehensive literature review was performed to identify relevant publications. Research studies, review articles and guidelines were sought, focusing on the paediatric management and long-term outcomes of surgical conditions of childhood. The article has been written for adult surgeon readership.
RESULTS
This article describes the aforementioned conditions, their management in childhood and their lifelong implications, including: oesophageal atresia, tracheo-oesophageal fistula, malrotation, short bowel syndrome, duodenal atresia, gastroschisis, exomphalos, choledochal malformations, biliary atresia, Hirschsprung disease, anorectal malformations, congenital diaphragmatic hernia, congenital lung lesions and paediatric cancer.
CONCLUSION
The increasing survivorship of children affected by surgical conditions will translate into a growing population of adults with lifelong conditions and specialist healthcare needs. The importance of transition from childhood to adulthood is becoming realized. It is hoped that this timely review will enthuse the readership to offer care for such vulnerable patients, and to collaborate with paediatric surgeons in providing successful and seamless transitional care.
Topics: Humans; Child; Congenital Abnormalities; Neoplasms; Adult; Surgical Procedures, Operative
PubMed: 38776252
DOI: 10.1093/bjsopen/zrae028 -
International Journal of Surgery Case... May 2024Congenital obstruction of duodenojejunal junction is a rare unexplored pathologic entity. Most of the cases reported so far are regarding extrinsic band or narrower...
INTRODUCTION AND IMPORTANCE
Congenital obstruction of duodenojejunal junction is a rare unexplored pathologic entity. Most of the cases reported so far are regarding extrinsic band or narrower attachment of ligament of Treitz, which will be presenting with vomiting in neonates and children without malrotation.
CASE PRESENTATION
Author is reporting here two rare cases of congenital intrinsic duodenojejunal junctional obstruction and their management in toddlers.
CLINICAL DISCUSSION
Duodenojejunal junction, is an embryologically, pathologically and radiographically, yet unexplored region except anatomically and surgically. Only few pathologies have been described in this region so far CONCLUSION: An abnormal embryogenesis could be speculated and contemplated to be the reason for such rare congenital duodeno jejunal junctional obstruction which should be managed promptly as per required surgical techniques.
PubMed: 38762960
DOI: 10.1016/j.ijscr.2024.109766 -
Case Reports in Medicine 2024Duodenal atresia or stenosis are different degrees of the same abnormality. They usually occur at the level of the ampulla of Vater and are thought to be an embryologic...
BACKGROUND
Duodenal atresia or stenosis are different degrees of the same abnormality. They usually occur at the level of the ampulla of Vater and are thought to be an embryologic defect during the development of the foregut, leading to abnormal recanalization. Complete duodenal atresia is usually symptomatic in the early neonatal period, while partial obstruction (web, stenosis) may have a late presentation and a more challenging diagnosis such as in our case. . The patient, a 16-year-old girl, presented with abdominal pain, recurrent vomiting, and growth failure. An upper GI study with barium showed an image compatible with gastroptosis. Further diagnostic procedures confirmed a rare finding such as congenital duodenal stenosis. She underwent surgical intervention, and the recovery period was uneventful.
CONCLUSION
Gastroptosis is not diagnostic for a particular disease. This rare radiological finding in children may obscure uncommon diagnosis, such as congenital duodenal stenosis, which can present a diagnostic challenge beyond early childhood.
PubMed: 38736458
DOI: 10.1155/2024/1070253 -
American Journal of Ophthalmology Case... Jun 2024To report a case of oculo-facio-cardio-dental (OFCD) syndrome secondary to a novel variant in a pediatric patient with congenital cataracts, microphthalmia, persistent...
Foveal photoreceptor atrophy, persistent fetal vasculature, congenital cataracts, and microphthalmia in a pediatric patient with -associated oculo-facio-cardio-dental (OFCD) syndrome.
PURPOSE
To report a case of oculo-facio-cardio-dental (OFCD) syndrome secondary to a novel variant in a pediatric patient with congenital cataracts, microphthalmia, persistent fetal vasculature (PFV), focal chorioretinal hyperpigmentation, peripheral retinal avascularity, and foveal photoreceptor atrophy.
OBSERVATIONS
A 3-month-old female patient was referred for bilateral congenital cataracts with microphthalmia. Her past medical history was significant for syndactyly of the toes, left bifid rib, atrial septal defect, patent ductus arteriosus, mitral regurgitation, pulmonary hypertension, anemia of prematurity, vesicoureteral reflux, and duodenal atresia. Examination under anesthesia revealed persistent fetal vasculature (PFV) with peripheral avascularity, foveal photoreceptor atrophy, and focal chorioretinal hyperpigmentation. A bilateral lensectomy with anterior vitrectomy and posterior capsulotomy were performed. Genetic testing identified a novel heterozygous pathogenic variant in the gene (c.1612C > T (p.Gln538Ter)), confirming a diagnosis of OFCD syndrome.
CONCLUSIONS AND IMPORTANCE
This case describes novel posterior segment findings in a patient with OFCD. A detailed examination of both anterior and posterior segments in combination with multimodal imaging should be performed in patients suspected of having OFCD, as this may be critical in determining visual potential and appropriate surgical management.
PubMed: 38699441
DOI: 10.1016/j.ajoc.2024.102060 -
Revista Da Associacao Medica Brasileira... 2024The aim of this study was to analyze the outcomes of newborns with Down syndrome admitted to three neonatal intensive care units in the city of Rio de Janeiro, Brazil.
OBJECTIVE
The aim of this study was to analyze the outcomes of newborns with Down syndrome admitted to three neonatal intensive care units in the city of Rio de Janeiro, Brazil.
METHODS
A retrospective cohort study was conducted by analyzing the medical records between 2014 and 2018 of newborns with Down syndrome admitted to three neonatal intensive care units. The following variables were analyzed: maternal and perinatal data, neonatal malformations, neonatal intensive care unit intercurrences, and outcomes.
RESULTS
A total of 119 newborns with Down syndrome were recruited, and 112 were selected for analysis. The most common maternal age group was >35 years (72.07%), the most common type of delivery was cesarean section (83.93%), and the majority of cases were male (53.57%). The most common reasons for neonatal intensive care unit hospitalization were congenital heart disease (57.66%) and prematurity (23.21%). The most common form of feeding was a combination of human milk and formula (83.93%). The second most common malformation was duodenal atresia (9.82%). The most common complications during neonatal intensive care unit hospitalization were transient tachypnea of the newborn (63.39%), hypoglycemia (18.75%), pulmonary hypertension (7.14%), and sepsis (7.14%). The mean length of stay in the neonatal intensive care unit was 27 days. The most common outcome was discharge (82.14%). Furthermore, 12.50% of newborns were transferred to an external neonatal intensive care unit, and 6% died.
CONCLUSION
Newborns with Down syndrome are more likely to be admitted to the neonatal intensive care unit, and the length of hospital stay is longer due to complications related to congenital malformations common to this syndrome and prematurity.
Topics: Humans; Infant, Newborn; Down Syndrome; Intensive Care Units, Neonatal; Retrospective Studies; Brazil; Female; Male; Adult; Maternal Age; Length of Stay
PubMed: 38656004
DOI: 10.1590/1806-9282.20231186 -
JPGN Reports Feb 2024Umbilical venous catheters are commonly inserted in critically ill newborns and can lead to severe complications when misplaced. We report a preterm female with a...
Umbilical venous catheters are commonly inserted in critically ill newborns and can lead to severe complications when misplaced. We report a preterm female with a prenatal diagnosis of duodenal atresia who presented 2 days after the surgical repair with abdominal distension, hemodynamic instability, elevated liver enzymes with severe cholestatic jaundice, and a hepatic collection on abdominal sonography. An urgent explorative laparotomy demonstrated a large amount of white, milky-appearing fluid in the abdominal cavity. Together with the sonographic findings, this led to the diagnosis of hepatic total parenteral nutrition extravasation. Upon removal of the umbilical venous catheter line, the infant's clinical state rapidly improved; however, cholestasis continued for months, with a very slow resolution. During follow-up, the liver enzymes normalized, and a complete resolution of the liver collection was observed, without drainage.
PubMed: 38545274
DOI: 10.1002/jpr3.12031 -
Endoscopy Dec 2024
Transpapillary biliary drainage using a forward-viewing endoscope for distal malignant biliary obstruction after placement of a duodenal stent for type I duodenal stenosis.
Topics: Humans; Duodenal Obstruction; Stents; Endoscopes; Drainage; Cholestasis; Intestinal Atresia
PubMed: 38485156
DOI: 10.1055/a-2271-6994 -
Endoscopy Dec 2024
Topics: Adult; Humans; Duodenal Obstruction; Duodenum; Intestinal Atresia
PubMed: 38458246
DOI: 10.1055/a-2262-8128 -
Indian Journal of Pathology &... Nov 2023Biliary atresia (BA) is the most common cause of the obstructive type of neonatal cholestasis that requires prompt surgical intervention. About 10% of neonates with BA...
Biliary atresia (BA) is the most common cause of the obstructive type of neonatal cholestasis that requires prompt surgical intervention. About 10% of neonates with BA have other congenital anomalies, of which splenic malformation (BASM) is a well-known distinct sub-group. There is sparse literature on the association of duodenal atresia and ductal plate malformation (DPM) in patients of BASM. We describe a BASM associated with DPM and duodenal atresia in a 35-day-old infant, who succumbed at 40 days, before portoenterostomy could be performed. Duodenal atresia can be one of the associated malformations associated with BASM and ductal plate abnormalities. In our case, the child did not survive.
PubMed: 38394407
DOI: 10.4103/ijpm.ijpm_182_23 -
Radiology Case Reports May 2024Etiologies underlying the relatively infrequent third-trimester sonographic depiction of dilated fetal bowel include (functional or mechanical) bowel obstruction,...
Etiologies underlying the relatively infrequent third-trimester sonographic depiction of dilated fetal bowel include (functional or mechanical) bowel obstruction, intestinal atresia, volvulus, annular pancreas, intestinal malrotation, intussusception, gastrointestinal duplications, cystic fibrosis-associated meconium ileus, congenital chloride diarrhea, microvillus inclusion disease, intestinal neuronal dysplasia, and meconium plug syndrome. Fetal bowel obstruction may be associated with aneuploidy (mostly Trisomy 21 in association with esophageal or duodenal atresia), and rarely select microduplications or deletions. We present unusual sonographic findings associated with transient marked proximal fetal bowel dilatation in association with concurrent development of oligohydramnios, in a growth-restricted fetus at 35 weeks' gestation. This case supports that upon observation of dilated loops of fetal bowel, while not negating the potential need for delivery secondary to potential bowel compromise, consideration should be given for observation in anticipation of potential spontaneous resolution of this condition, especially among growth-restricted fetuses with decreased amniotic fluid volume in prematurity.
PubMed: 38384702
DOI: 10.1016/j.radcr.2024.01.069