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it is a great presentation good figures thanks a lot

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Neonatal Case Presentation : 

Sara Vogan FY2 Paediatrics Neonatal Case Presentation

Background : 

24/04/2010 Neonatal Meeting/TROH 2 Background PREVIOUS PREGNANCY History of previous neonatal death at 3 months due to veno-occlusive disease this infant also had an oesophageal atresia with fistula. Parents advised not genetic THIS PREGNANCY Mother had numerous antenatal scans at SMH Scans showed normal heart structure but stated that TOF could not be ruled out.

Post Delivery on CDU : 

24/04/2010 Neonatal Meeting/TROH 3 Post Delivery on CDU Baby delivered under midwifery care APGAR’s 8 @ 1min and 9 @ 5min On arrival infant on resuscitaire with midwife in attendance Infant pink, very agitated and mucousy. Copious amounts of mucous obtained from nasopharynx and oropharynx via suction catheter. O/E Heart sounds normal >100bpm. Chest sounds crackly and wet. Normal tone.

Slide 4: 

24/04/2010 Neonatal Meeting/TROH 4 NGT passed with relative ease down left nostril, right nostril was obstructed. Infant became cyanotic whilst NGT was being passed. Pinked up easily when NGT removed ? Tube passed into left bronchus due to oesophageal obstruction. Admitted to NNU for further observation.

Admission to Neonatal Unit : 

24/04/2010 Neonatal Meeting/TROH 5 Admission to Neonatal Unit On admission infant continues to have copious amounts of secretions from Nose/Oropharynx. Further failed attempts at passing NGT. Infant becoming cyanotic and agitated throughout procedure. NGT finally appeared to pass and CXR performed whilst NGT insitu.

Investigations & Management : 

24/04/2010 Neonatal Meeting/TROH 6 Investigations & Management CXR showed NGT curled back at T3. X-ray also showed large ‘boot’ shaped heart. Repogle Tube on continuous suction inserted to manage secretions. St Mary’s Paediatric Surgical unit contacted. Infant transferred to SMH for surgical review.

Follow up 5 days later : 

24/04/2010 Neonatal Meeting/TROH 7 Follow up 5 days later SMH contacted for update on infants progress. Diagnosis from SMH: Tracheo-oesophogeal atresia with oesophageal fistula and Total Anomalous Pulmonary Drainage(TAPVD). Infant was also noted to have mild dysmorphic features and genetic bloods have been sent.

Surgery : 

24/04/2010 Neonatal Meeting/TROH 8 Surgery Infant transferred from SMH to Alder Hey for TOF repair and Cardiac Management. Alder Hey contacted: Infant has undergone TOF repair successfully. Awaiting TAPVD repair.

Oesophageal atresia with Tracheoesophageal fistula (TOF) : 

24/04/2010 Neonatal Meeting/TROH 9 Oesophageal atresia with Tracheoesophageal fistula (TOF) Here comes the science bit...

A gentle bit of embryology : 

24/04/2010 Neonatal Meeting/TROH 10 A gentle bit of embryology The 4 week old embryo develops a lung bud from the ventral wall of the foregut Week 6-7 Oesophagotracheal ridges form a septum splitting the foregut into oesophagus and trachea with lung buds

TOF : 

24/04/2010 Neonatal Meeting/TROH 11 TOF Occurs when there is a fault with this stage of embryology Occurs in 1 in 3000 births In 90%, the upper oesophagus ends in a blind pouch and the lower segment forms a fistula with the trachea (as in this case)

90% are the type c, 1% are type d and 4% type e, with the remaining 5% having isolated atresia with no fistula : 

24/04/2010 Neonatal Meeting/TROH 12 90% are the type c, 1% are type d and 4% type e, with the remaining 5% having isolated atresia with no fistula

WHY? : 

24/04/2010 Neonatal Meeting/TROH 13 WHY? 45% of TOFs occur in isolation The remainder are associated with (most common first): VACTERL (also CHARGE) Chromosomal – Down’s, Edward’s Environmental – maternal alcohol abusive, excessive vitamin A Single gene disorders – Treacher Collins (Treacher Collins is an Autosomal dominant mandibulofacial dysostosis) But this is not fully understood TOFs with VACTERL have 3% reoccurance TOFs with gene disorders have 25-50% reoccurance


24/04/2010 Neonatal Meeting/TROH 14 VACTERL V = vertebral anomalies A = anal atresia C = cardiac defects T = tracheoesophageal fistula E = (O)Esophageal atresia R = renal anomalies L = limb defects (CHARGE = colobomas, heart defects, atresia of the choanae, retarded growth, genital anomolies, and ear defects)

TOFS family study - 2000 : 

24/04/2010 Neonatal Meeting/TROH 15 TOFS family study - 2000 Confirmed TOF and VACTERL connection as well as a connection with twinning Relatives of TOF children are more likely to have a/several VACTERL anomalies Relatives of TOF children more likely to have chest infections/reflux oesophageal dysmotility ?is there a stronger genetic component than originally thought?

Thank You : 

Thank You Special thanks to Agnes Illingworth References Langman’s Medical Embryology (eighth edition)

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