scholarly journals Cystic hygroma and esophageal atresia with tracheoesophageal fistula: Is there a genetic association?

2021 ◽  
Vol 10 ◽  
pp. 42
Author(s):  
Sravanthi Vutukuru ◽  
Nitin James Peters ◽  
Shivani Dogra ◽  
Ram Samujh
Keyword(s):  
Genetic Analysis ◽  
Esophageal Atresia ◽  
Congenital Anomalies ◽  
Tracheoesophageal Fistula ◽  
Rare Case ◽  
Cystic Hygroma ◽  
Injection Sclerotherapy ◽  
Case Presentation ◽  
Future Studies ◽  
Fox Genes

Background: Tracheoesophageal fistula (TEF) is associated with many other congenital anomalies like cardiac, renal, and vertebral, but the association with cystic hygroma is very rare. Case Presentation: We report a neonate, antenatally diagnosed with cystic hygroma of the neck and incidentally diagnosed to have TEF. The baby was operated on after adequate stabilization and the cystic hygroma was managed with injection sclerotherapy. The genetic analysis for the FOX genes complex has been done in this case and the results showed no association between the two. Conclusion: There is a need for future studies to find out if the association between cystic hygroma and TEF is by chance or if any embryological or genetic cause can be attributed to it.

Esophageal Atresia with or without Tracheoesophageal Fistula (EA/TEF): Association of Different EA/TEF Subtypes with Specific Co-occurring Congenital Anomalies and Implications for Diagnostic Workup

2017 ◽  
Vol 28 (02) ◽  
pp. 176-182 ◽  
Author(s):  
Nadine Zwink ◽  
Vera Chonitzki ◽  
Alice Hölscher ◽  
Thomas Boemers ◽  
Oliver Münsterer ◽  
...  
Keyword(s):  
Esophageal Atresia ◽  
Congenital Anomalies ◽  
Tracheoesophageal Fistula ◽  
Anatomical Variation ◽  
Neurodevelopmental Outcome ◽  
Diagnostic Workup ◽  
Neurocognitive Development ◽  
Future Studies ◽  
Clinical Records

Background Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) represents the most common developmental malformation of the upper digestive tract. It is classified into six subtypes according to the classification of Vogt, depending on anatomical variation of this malformation. Around 50% of the patients with EA/TEF present additional anomalies, which often influence, next to the EA/TEF subtype, the overall prognosis of EA/TEF newborns. Here, we investigated the association of the different EA/TEF subtypes with co-occurring congenital anomalies in EA/TEF patients and demonstrate their implications for postnatal diagnostic workup. Materials and Methods We investigated 333 patients of a large German multicenter study born between 1980 and 2012. After evaluation of all available clinical records, 235 patients were included in our analysis. We compared our results with existing data. Results The highest risk for co-occurring anomalies was seen in patients with most common Vogt 3b (p = 0.024), especially for additional gastrointestinal anomalies (p = 0.04). Co-occurring anomalies of the skin were significantly more common in patients with subtype Vogt 2 (p = 0.024). A significant correlation was observed for an impaired neurodevelopmental outcome and EA/TEF Vogt 3a (p = 0.041). Patients with EA/TEF showed a higher risk to present with any additional congenital anomaly compared with the general population (p < 0.001). Conclusion Our results warrant thorough clinical workup for gastrointestinal anomalies especially in patients with Vogt 3b. Moreover, it might be necessary to focus on a thorough aftercare for neurocognitive development in patients with Vogt 3a. The here presented observations need to be confirmed by future studies.

Anesthesia for Tracheoesophageal Fistula

2021 ◽  
pp. 197-208
Author(s):  
Ajay D’Mello ◽  
Vidya T. Raman
Keyword(s):  
Intensive Care ◽  
Esophageal Atresia ◽  
Congenital Anomalies ◽  
Neonatal Intensive Care ◽  
Tracheoesophageal Fistula ◽  
Congenital Abnormalities ◽  
Surgical Techniques ◽  
Live Births

A tracheoesophageal fistula (TEF) is a communication that is congenital or acquired between the trachea and esophagus. The reported incidence of TEF or esophageal atresia (EA) is roughly one to two per 5,000 live births. The first successful surgery for TEF was in 1939. Presently, owing to progress in surgical techniques, neonatal intensive care, and neonatal anesthesia, the majority of neonates with a TEF/EA who do not have severe associated congenital anomalies are expected to have satisfactory outcomes. Coexisting congenital abnormalities occur in 30 to 50% of patients with TEF/EA. Congenital anomalies are more common in patients with isolated esophageal atresia (65%) compared with isolated tracheoesophageal fistula (10%).

Congenital high airway obstruction syndrome complicated with foregut malformation and high airway fistula to the alimentary tract – a case series with four distinct types

2020 ◽  
Vol 9 (1) ◽  
Author(s):  
Yutaka Kanamori ◽  
Kazunori Tahara ◽  
Michinobu Ohno ◽  
Kotaro Tomonaga ◽  
Yohei Yamada ◽  
...  
Keyword(s):  
Mortality Rate ◽  
Airway Obstruction ◽  
Esophageal Atresia ◽  
Tracheoesophageal Fistula ◽  
Alimentary Tract ◽  
Correct Diagnosis ◽  
Case Series ◽  
Duodenal Atresia ◽  
Case Presentation ◽  
Foregut Malformation

AbstractBackgroundCongenital high airway obstruction syndrome (CHAOS) is a rare disease and recently has been noticed to show typical prenatal images, such as hyperinflated lungs and flattened or inverted diaphragms. However, in some cases correct diagnosis may be difficult and in such cases the mortality rate increases.Case presentationWe report four cases of CHAOS complicated with a high airway fistula to the alimentary tract and foregut malformation. The patients did not show the typical features of CHAOS in the fetus. This may be attributed to the high airway fistula acting as a decompression route for the accumulated lung fluids to the alimentary tract.ConclusionThe combination of CHAOS, foregut malformation and a high airway fistula is very rare and classified into four distinct types: (1) CHAOS with a high airway fistula but not with a foregut malformation; (2) CHAOS with esophageal atresia and tracheoesophageal fistula; (3) CHAOS with a high airway fistula and duodenal atresia; and (4) CHAOS with esophageal atresia, tracheoesophageal fistula and duodenal atresia. It may be useful for treating physicians to be aware of these four distinct types and the typical characteristics of each type.

scholarly journals An Unusual Case of Foreign Body Lodged in the Laryngopharynx of Neonate with Esophageal Atresia

2015 ◽  
Vol 5 (1) ◽  
pp. 8
Author(s):  
Rahul Gupta ◽  
Manisha Saxena ◽  
Rozy Paul ◽  
Sharan Gubbi ◽  
Praveen Mathur
Keyword(s):  
Foreign Body ◽  
Endotracheal Intubation ◽  
Esophageal Atresia ◽  
Tracheoesophageal Fistula ◽  
Rare Case ◽  
Unusual Case ◽  
Rubber Catheter

A blunt‑tipped red rubber catheter is used to confirm the presence of esophageal atresia in any newborn with drooling of saliva and frothing from the mouth. Failure to pass it beyond 10cms into the esophagus is considered diagnostic. We here in report an extremely rare case of broken tip of red rubber catheter lodged in the laryngopharynx of 2-day-old neonate of esophageal atresia with distal tracheoesophageal fistula. During endotracheal intubation foreign body was accidentally removed.

A Rare Case of Athelia in a Crossbred Cow

2017 ◽  
Vol 12 (3) ◽  
Author(s):  
R. Uma Rani
Keyword(s):  
Dairy Cattle ◽  
Congenital Anomalies ◽  
Rare Case ◽  
Congenital Abnormalities ◽  
Economic Value ◽  
Therapeutic Management ◽  
Rare Occurrence ◽  
Crossbred Cow

The udder is a very important organ and has economic value in dairy cattle. Though highly vulnerable to various disease conditions, e.g. mastitis, congenital anomalies in the udder are of rare occurrence (Dandale et al., 2013). Congenital abnormalities of the mammary system in cows comprise absence of teats, glands, supernumerary teats and imperforate teats. Absence of teat is extremely rare, but isolated cases in which the teats were only represented by slight eminences have been met with (O’ Connor, 1980). Athelia was reported in buffaloes by Sailendra and Sandhya (1998) and Vidyasagar (2009) and in a Japanese black heifer by Ghanem et al. (2011). In the present paper, a rare case of athelia in a Jersey crossbred cow and its therapeutic management by permanent cessation of lactation is reported.

scholarly journals A case of sigmoid volvulus in an unexpected demographic

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Mohammad Saba ◽  
Joshua Rosenberg ◽  
Gregory Wu ◽  
Gudata Hinika
Keyword(s):  
Abdominal Pain ◽  
Severe Pain ◽  
Rare Case ◽  
Young Female ◽  
Sigmoid Volvulus ◽  
Case Presentation ◽  
Operative Complications ◽  
History Of ◽  
Male Sex ◽  
Emergent Laparotomy

Abstract Background A sigmoid volvulus occurs when a segment of the colon twists upon its mesentery. This infliction is associated with old age, multiple co-morbidities, and the male sex. We present a rare case of sigmoid volvulus that occurred in a healthy young female. Case presentation A 28-year-old female presented with a one week history of constipation and abdominal pain. Her symptoms suddenly worsened and became associated with vomiting and severe pain. A focused history taking and physical examination showed peritoneal signs that led to timely diagnostic imaging to be implemented. Computed tomography (CT) of the abdomen was consistent with sigmoid volvulus. Our patient underwent emergent laparotomy with a sigmoidectomy and recovered with no post-operative complications. Conclusion This case report emphasizes the importance of clinicians maintaining a sigmoid volvulus as a rare, yet important differential when approaching abdominal pain in young healthy patients.

scholarly journals A rare case of Pseudomonas aeruginosa bacteremia in a newborn with 58 perforations in the small intestine

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Yuanyuan Xu ◽  
Danqun Jin ◽  
Huan Ye ◽  
Youfeng Liang
Keyword(s):  
Pseudomonas Aeruginosa ◽  
Small Intestine ◽  
Early Detection ◽  
Abdominal Surgery ◽  
Rare Case ◽  
Venous Blood ◽  
Case Presentation ◽  
Systemic Infections ◽  
Emergency Abdominal Surgery ◽  
Timely Treatment

Abstract Background Community-acquired infections of Pseudomonas aeruginosa (P. aeruginosa) occur very rarely. Case presentation P. aeruginos was detected in cultures of venous blood and peritoneal exudate of a newborn with 58 perforations in the small intestine. Intravenous administration of imipenem cilastratin sodium and emergency abdominal surgery were performed. The patient fully recovered and was discharged 17 days after the operation. Conclusions Mild symptoms of systemic infections in newborns may delay the diagnosis. Early detection and timely treatment are the key to improved prognosis.

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