Newborn with dysmorphic signs, small palpebral fissure, abnormal implantation of the thumb of her left hand, respiratory distress syndrome, tachypnoea, and cyanosis.
This is the second pregnancy of healthy 27 year old mother. The pregnancy was uneventful until the third trimester, when polyhydramnios and intrauterine growth retardation were detected by antenatal ultrasound. The child was born by uncomplicated delivery at 37 weeks of gestation. Apgar scores were 6 and 8. Birth weight: 1730 g. Ambu-bag resuscitation was necessary. Physical examination showed dysmorphic signs, including: small palpebral fissure and abnormal implantation of the thumb of her left hand, along with respiratory distress syndrome, tachypnoea, cyanosis, copious secretions, and a scaphoid abdomen.
Chest radiography was performed soon after birth.


What is the possible diagnosis in this patient?


ANSWER

Xray shows Nasogastric tube projected onto the proximal oesophagus and absence of gastrointestinal air. There is a widespread pattern of granular increased density in the lungs, with effacement of the cardiac borders, consistent with respiratory distress.

Oesophageal atresia and tracheo-oesophageal fistula is a complex of congenital anomalies characterised by incomplete formation of the tubular oesophagus.
Different types of oesophageal atresia are identified on the basis of the presence (and location) or absence of a tracheo-oesophageal fistula.
- Type A: atresia without fistula (8%)
- Type B: atresia with proximal fistula (1%)
- Type C: atresia with distal fistula (80%)
- Type D: atresia with proximal and distal fistulae (1%)
- Type E: fistula without atresia (4%)
About half the children have other associated malformations and the VACTERL complex (Vertebral disorders, Ano-rectal malformations, Cardiovascular anomalies, Tracheo-oesophageal fistula, Radial/Renal dysplasia, Limb defects) is the best known group of anomalies associated with oesophageal atresia.
Typical clinical findings are failure to successfully pass a catheter into the stomach, regurgitation, inability to swallow saliva or milk, aspiration, respiratory distress, aspiration pneumonia.
Radiologic diagnosis is based on findings at anteroposterior and lateral chest radiography wich reveals a blind pouch of the proximal oesophagus, distended with air. adiographic evaluation should always include the abdomen to asses the presence of air in the gastrointestinal tract (distal fistula). In types A and B there is complete absence of gas in the stomach and intestinal tract; in types C and D, the gastrointestinal tract usually appears distended with air.
The type of oesophageal atresia is confirmed by advancing a radiopaque feeding tube from the nose to the level of the atresia. The tube will curl when it approaches the blind end. Rigid bronchoscopy is performed to confirm the anatomy, to evaluate for a proximal fistula and to control the distal fistula.
During pregnancy, oesophageal atresia may be suggested by the presence of a combination of polyhydramnios.

Answer - Type A Oesophageal atresia : atresia without fistula


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11 comments

  1. Anonymous Says:
  2. Esophageal atresia is a disorder of the digestive system in which the esophagus does not develop properly. The esophagus is the tube that normally carries food from the mouth to the stomach.

     
  3. Anonymous Says:
  4. Yes, esophageal atresia could be right...there is no gas in the intestine, stomach on the X-ray...polyhydramnion is also one of the signs...

     
  5. Anonymous Says:
  6. Rubella syndrome.an ECG shud be dne2 chck out heart abnormalities..

     
  7. Anonymous Says:
  8. This can not be esophageal atresia, as there are secretions coming out, however, there could be malformation of the lungs as the kids lungs look clear. The heart look too big for gestational age.

     
  9. Anonymous Says:
  10. esophageal atresia.. no gas in stomach or intestine!

     
  11. Anonymous Says:
  12. Thank u. This kid has several congenital issues. With just an X-ray it is very hard to up with a conclusive diagnosis.

     
  13. sufwan Says:
  14. Esophageal atresia

     
  15. Anonymous Says:
  16. Esophageal atresia, but not sure about the Congenital syndrome. oK

     
  17. mohsin Says:
  18. VATER

     
  19. Anonymous Says:
  20. V ertebra
    A nus
    C ardiac
    T rachea
    E sophagus -> atresia, polyhydramnios
    R enal
    L imb -> abnormal implamtation of the thumb of her left hand

     
  21. dr.faiza Says:
  22. esophageal atresia with tracheoesophageal fistula

     

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