ISA KANYAKUMARI

A Case of APERT SYNDROME

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A Case of APERT SYNDROME with Incomplete cleft palate was posted for palatoplasty.

Dr.V. Sankara Subramanian, Consultant Anaesthesiologist, Dr.Jeyashekaran Hospital, Nagercoil

 

Brief Summary

  • Baby was full term normal delivery baby
  • No H/O of birth asphyxia
  • H/o delayed milestones (+)
  • H/o epilepsy (+) and was on medications
  • Last episode of fits 4 months back
  • Congenital hydrocephalus (+), VP shunt procedure done at the age of 5 years
  • Age 7 years, Weight – 12.5 Kgs
 
Apert Syndrome

 

     

 

Pre operative Assessment

  • No verbalisation
  • Large Head +
  • Syndactyly +
  • Macroglossia  +
  • Micrognathia +
  • Maxillary hyperplasia +
  • CVS-RS – Clinically normal
  • P/A – umbilical hernia +

 

Anaesthetic Management

  • IV line secured with difficulty
  • Pre oxygenation done
  • Inhalation induction : 6% Sevoflurane+ N2O + O2
  • Trial laryngoscopy done, epiglottis visualised
  • Induced with PROPOFOL 45 mg, FENTANYL 25 mic
  • Orally intubated with 5 size uncuffed RAE tube
  • Maintenance N2O + O2 + Atracurium + Sevoflurane
  • Intraop – uneventful baby
  • Girl extubated on table, smooth postoperative period
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Apert Syndrome Apert Syndrome

 

Discussion

 
  • Anticipating airway difficulty in paediatric population
  • Syndrome associated with cleft lip / palate
  • Apert Syndrome
  • 1906 French Neurologist first described
  • Mutation in a gene located on Ch:10Q
  • Incidence – 1:65000
  • Features
  • Hyper hidrosis
  • Craniosynostosis
  • Chiarri malformation, Frontal  Bossing, Development delay
  • Low set ears
  • Mid face – development delay
  • Associated ASD, VSD
  • Syndactly
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