Anesthesia for Stüve-Wiedemann syndrome: a rare adult patient case report

J Appl Genet. 2020 Dec;61(4):571-573. doi: 10.1007/s13353-020-00581-5. Epub 2020 Sep 10.

Abstract

Stüve-Wiedemann syndrome (SWS) is a rare genetic disorder characterized by skeletal dysplasia and severe dysautonomia, evidencing a difficult airway approach and likely increased malignant hyperthermia susceptibility. Developmental dysmorphism classically worsens with age, therefore translating in a poor prognosis. In this article, we describe a case of a 27-year-old woman diagnosed with SWS proposed for abscess drainage under dissociative anesthesia. This patient has outlived the life expectancy described for SWS, acknowledging the importance of reporting this rare adult clinical case in what SWS anesthetic management is concerned.

Keywords: Anesthetic management; Difficult airway approach; Rare genetic disorder; Stüve-Wiedemann syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology
  • Abnormalities, Multiple / therapy*
  • Adult
  • Anesthesia / methods*
  • Anesthetics, Dissociative / administration & dosage*
  • Exostoses, Multiple Hereditary / genetics
  • Exostoses, Multiple Hereditary / pathology
  • Exostoses, Multiple Hereditary / therapy*
  • Female
  • Humans
  • Osteochondrodysplasias / genetics
  • Osteochondrodysplasias / pathology
  • Osteochondrodysplasias / therapy*
  • Primary Dysautonomias / genetics
  • Primary Dysautonomias / pathology
  • Primary Dysautonomias / therapy

Substances

  • Anesthetics, Dissociative

Supplementary concepts

  • Stuve-Wiedemann syndrome