P53
STÜVE-WIEDEMANN SYNDROME : A RARE MULTISYSTEM DISORDER WITH ANAESTHETIC UNKNOWNS
G. S. P. Panesar, Birmingham Children's Hospital, UK
Description
A 2 year old patient with Stüve-Wiedemann Syndrome (SWS), a condition with a typical incidence less than 1 in 200,000, presented at a non tertiary paediatric centre for eyelid and corneal surgery. As part of their condition, they had diagnosed abnormalities of thermoregulation and plasma cholinesterases.
Rare conditions in children are encountered frequently by the paediatric anaesthetist. A key feature of safe anaesthesia is not only an understanding of the disease process and implications for the anaesthetist, but also the review of available evidence and knowledge of where to find information regarding these rare diseases. This case report outlines the learning journey and resources utilised by a senior anaesthetic trainee formulating a plan for the management of a patient with a rare condition such as SWS and the lessons learned along the way.
A review of the available evidence allowed the formulation of a safe anaesthetic plan focussed around the potential complications that may be associated with this rare syndrome.
The patient had an uneventful peri and postoperative period, and was discharged home within 24 hours
Discussion
Stüve-Wiedemann Syndrome is a multisystem autosomal recessive disorder, characterised by skeletal abnormalities and dysautomnia, particularly abnormalities of temperature regulation and respiratory co-ordination. Death is unfortunately common in the neonatal period, usually due to respiratory failure or an unmanageable hyperthermic episode.[1]
The diagnosis of this condition is confirmed postnatally, with the presence of typical clinical and radiological features, and observable mutations in the leukaemia inhibitory factor receptor (LIFR) gene. LIFR mutations have implications for cell differentiation (particularly nerve and bone growth), but also disrupt JAK/STAT signalling pathways, a fundamental mode of extracellular to intracellular messaging.
With so few individuals affected, there is a wide phenotype, with abnormalities that fundamentally influence anaesthetic conduct. These can include cardiac abnormalities, airway abnormalities and elevated levels of plasma cholinesterases affecting drug handling. There is also a potential association with malignant hyperthermia. This wide variation has significant implications for the conduct of anaesthesia and perioperative management of these patients [2][3].
Preoperatively, the team looking after this patient were briefed regarding their condition and MDT input from local and regional paediatricians was sought. A detailed pre surgical brief was undertaken, outlining the issues that may present during and after the procedure, e.g.hyperthermia/CVS instability/altered response to medications/apnoieic episodes
This patient received total intravenous anaesthesia combined with tracheal intubation, facilitated with muscle relaxation. Ventilation was managed using a vapour free machine. Invasive temperature monitoring was used, and active warming/cooling available. Local anaesthetic techniques and simple analgesics were used intraoperatively, with full reversal of neuromuscular blockade using sugammadex at the end of surgery. The patient had an uneventful peri and postoperative period, and was discharged home within 24 hours of surgery.
References:
- Anaesthesia recommendations for patients suffering from Stüve-Wiedemann syndrome - https://www.orphananesthesia.eu/. Accessed at https://www.orphananesthesia.eu/en/rare-diseases/published-guidelines/st%C3%BCve-wiedemann-syndrome/232-st%C3%BCve-wiedemann-syndrome/file.html
- https://rarediseases.info.nih.gov/ : Stüve-Wiedemann syndrome. Accessed at https://rarediseases.info.nih.gov/diseases/5045/stuve-wiedemann-syndrome
- Bonthuis D, Morava E, Booij LH, Driessen JJ. Stuve Wiedemann syndrome and related syndromes: case report and possible anesthetic complications. Paediatr Anaesth. 2009 Mar;19(3):212-7. doi: 10.1111/j.1460-9592.2008.02891.x. Epub 2008 Dec 30. PMID: 19207241.