Background: Zellweger spectrum disorder is a heterogenous group of genetic disorders inherited in autosomal recessive pattern presenting in paediatric age group with symptoms of cerebrohepatorenal degeneration. Clinically, children present with features of hepatic dysfunction, seizures, developmental delay, hearing/visual impairment, and adrenocortical dysfunction.
Case presentation: A developmentally challenged 3 years, 8.7 kg girl was admitted in paediatric emergency ward with nine months history of frequent seizures, poor feeding, and repeated episodes of non-bilious vomiting. She had significantly delayed milestones followed by developmental regression over one year. The child was planned for feeding Jejunostomy in view of poor general condition and to avoid discomfort of nasogastric tube. There was focal neurological deficit, reduced vision and hearing. Airway examination showed short neck and poor dentition. MRI brain revealed diffuse cerebral atrophy and CE-MRI abdomen reported mild hepatomegaly, choledochal cyst with cholelithiasis. Prior to surgery, nasogastric feed was withheld for eight hours. Premedication administered was aspiration and antiepileptic prophylaxis. In addition to the standard monitoring, entropy and PVI using multiwavelength pulse-oximetry masimo was monitored. Anaesthesia was induced with intravenous thiopentone titrated to effect. Neuromuscular blocking agent was not administered in view of hypotonia involving oro-laryngo-pharyngeal musculature. 4% lignocaine was sprayed into airway and endotracheal intubation was accomplished using videolaryngoscopy. Procedure performed was Roux-en Y feeding jejunostomy. Analgesia was given using intravenous paracetamol and local infiltration of 0.2% ropivacaine at surgical site. Child was extubated when fully awake maintaining normal haemodynamic parameters and SpO2. Post extubation monitoring was continued in PACU and she was shifted to the ward after two hours. Patient was discharged home after 10 days and on a follow up after 6 months, she has gained weight and clinically improved.
Conclusions: Children with ZS have multiple perioperative challenges especially compromised respiratory status due to severe hypotonia and recurrent aspirations. Hypoalbuminemia and antiepileptic medications alter pharmacodynamics and pharmacokinetics of most of the anaesthetics. However, judicious titration of anaesthetics, optimum intravenous fluid administration, vigilant monitoring and thoughtfully planned surgical technique is essential to improve perioperative outcomes.