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Background <p>DeSanto-Shinawi syndrome (DESSH; OMIM #616708) is an exceedingly rare autosomal dominant neurodevelopmental disorder caused by heterozygous loss-of-function of the <i>WAC</i> gene (10p12.1), characterised by developmental delay, intellectual disability, behavioural abnormalities, and autistic features. To our knowledge, no perioperative anaesthetic experience in this condition has been described in the published literature, and no condition-specific anaesthetic data are available to guide management.</p> Case presentation <p>An 11-year-old boy (35&#xa0;kg, ASA physical status II) with molecularly confirmed DESSH (2.8-Mb heterozygous deletion at 10p12.1p11.23 encompassing <i>WAC</i>) and comorbid autism spectrum disorder underwent multiple dental treatments under general anaesthesia. Because condition-specific pharmacological data were unavailable and malignant hyperthermia (MH) susceptibility could not be formally excluded in a previously uncharacterised genetic disorder, propofol–remifentanil total intravenous anaesthesia (TIVA) was selected as a precautionary trigger-free technique, with dantrolene sodium vials sufficient for the maximum cumulative dose of 20&#xa0;mg·kg⁻¹ kept immediately available (not pre-reconstituted). Nasotracheal intubation with a 6.0&#xa0;mm cuffed spiral-reinforced tube was performed under videolaryngoscopy with Magill forceps. Anaesthesia was maintained with propofol and remifentanil for approximately three hours, with depth titrated to a Bispectral Index (BIS) of 40–60 and neuromuscular blockade continuously monitored by train-of-four (TOF) acceleromyography. At the end of surgery, with quantitative TOF monitoring confirming a moderate depth of block, sugammadex 2&#xa0;mg·kg⁻¹ was administered, and full recovery of neuromuscular function (TOF ratio ≥ 0.9) was confirmed prior to extubation. The patient recovered without postoperative nausea and vomiting, emergence agitation, respiratory events, or bleeding, and was discharged home on the same day.</p> Conclusions <p>In this patient with DESSH, a multimodal strategy of propofol–remifentanil TIVA with precautionary MH preparedness, objective depth and quantitative neuromuscular monitoring, and nasotracheal intubation under videolaryngoscopy was feasible and uneventful. The present report provides an initial empirical reference point for clinicians encountering this ultra-rare neurodevelopmental disorder in the perioperative setting; it does not, however, establish safety across the syndrome and should be interpreted as a single-case description.</p>

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Anaesthetic management of a child with DeSanto-Shinawi syndrome: a case report

  • 期刊论文

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  • 发表日期：

    2026年7月16日

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  • Ömer Kadir Gürbüz,
  • Yusuf Ziya Çolak,
  • Nurçin Gülhaş,
  • Alperen Fettahlıoğlu

摘要

Background

DeSanto-Shinawi syndrome (DESSH; OMIM #616708) is an exceedingly rare autosomal dominant neurodevelopmental disorder caused by heterozygous loss-of-function of the WAC gene (10p12.1), characterised by developmental delay, intellectual disability, behavioural abnormalities, and autistic features. To our knowledge, no perioperative anaesthetic experience in this condition has been described in the published literature, and no condition-specific anaesthetic data are available to guide management.

Case presentation

An 11-year-old boy (35 kg, ASA physical status II) with molecularly confirmed DESSH (2.8-Mb heterozygous deletion at 10p12.1p11.23 encompassing WAC) and comorbid autism spectrum disorder underwent multiple dental treatments under general anaesthesia. Because condition-specific pharmacological data were unavailable and malignant hyperthermia (MH) susceptibility could not be formally excluded in a previously uncharacterised genetic disorder, propofol–remifentanil total intravenous anaesthesia (TIVA) was selected as a precautionary trigger-free technique, with dantrolene sodium vials sufficient for the maximum cumulative dose of 20 mg·kg⁻¹ kept immediately available (not pre-reconstituted). Nasotracheal intubation with a 6.0 mm cuffed spiral-reinforced tube was performed under videolaryngoscopy with Magill forceps. Anaesthesia was maintained with propofol and remifentanil for approximately three hours, with depth titrated to a Bispectral Index (BIS) of 40–60 and neuromuscular blockade continuously monitored by train-of-four (TOF) acceleromyography. At the end of surgery, with quantitative TOF monitoring confirming a moderate depth of block, sugammadex 2 mg·kg⁻¹ was administered, and full recovery of neuromuscular function (TOF ratio ≥ 0.9) was confirmed prior to extubation. The patient recovered without postoperative nausea and vomiting, emergence agitation, respiratory events, or bleeding, and was discharged home on the same day.

Conclusions

In this patient with DESSH, a multimodal strategy of propofol–remifentanil TIVA with precautionary MH preparedness, objective depth and quantitative neuromuscular monitoring, and nasotracheal intubation under videolaryngoscopy was feasible and uneventful. The present report provides an initial empirical reference point for clinicians encountering this ultra-rare neurodevelopmental disorder in the perioperative setting; it does not, however, establish safety across the syndrome and should be interpreted as a single-case description.