Abstract
Introduction Potocki–Lupski syndrome (PTLS) is a rare disease caused by the duplication of a small segment of chromosome 17 (17p11.2). The clinical presentation of this syndrome is quite variable and includes hypotonia, failure to thrive, oropharyngeal dysphagia, developmental delay, and behavioral abnormalities. In addition, congenital heart disease, sleep apnea, and mildly dysmorphic features are common and should be considered during anesthetic management. However, because of the rarity and newness of the syndrome, there are few reports on the anesthetic care of patients with PTLS. Case Report. We report a case of a 4-year-old girl diagnosed with this syndrome who underwent general anesthesia for exotropia surgery. The patient exhibited micrognathia; a mild decrease in muscle tone; and a developmental delay in motor, speech, and cognition. She had a history of swallowing incoordination and gastroesophageal reflux. No abnormalities were found on a preoperative echocardiography. A videolaryngoscope was used for tracheal intubation, and the state of neuromuscular blockade was monitored in addition to standard monitoring. Anesthesia was maintained with sevoflurane and remifentanil. The patient recovered without any adverse events. Conclusion As PTLS patients may have several malformations, preanesthetic evaluation is important. Preoperative echocardiography and cardiologic consultations are required. It is desirable to prepare for the risk of difficult airway and pulmonary aspiration. Postoperatively, close monitoring is needed to prevent airway compromise.
Highlights
Potocki–Lupski syndrome (PTLS) is a rare disease caused by the duplication of a small segment of chromosome 17 (17p11.2). e clinical presentation of this syndrome is quite variable and includes hypotonia, failure to thrive, oropharyngeal dysphagia, developmental delay, and behavioral abnormalities
The case reports and reviews on PTLS have been published until recently [6–8], there are few reports on the anesthetic care of patients with PTLS [9, 10]; this syndrome is very unfamiliar to anesthesiologists
A 4-year-old girl diagnosed with PTLS showed micrognathia, a mild decrease in the muscle tone, neurodevelopmental delay, and a history of swallowing incoordination and gastroesophageal reflux
Summary
Potocki–Lupski syndrome (PTLS) is a rare chromosomal disease with an estimated incidence of 1/25,000 [1]. PTLS, known as duplication 17p11.2 syndrome or trisomy 17p11.2, is diagnosed by detecting a heterozygous microduplication at band 11.2 on the short arm of chromosome 17, which encompasses the retinoic acid inducible 1 gene (RAI1). E size of the duplicated region varies; a common (∼3.7 Mb) duplication is found in approximately two-thirds of patients [2]. It is noteworthy that cardiovascular anomalies and electrocardiographic abnormalities are found in approximately 40% of PTLS patients [4]. Because of the rarity and newness of the syndrome, there are few reports related to anesthesia in patients with this syndrome. We report the case of a 4-year-old girl with PTLS who underwent general anesthesia for exotropia surgery and discuss the anesthetic considerations
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