Perioperative management of patients with Mucolipidosis II and III: Lessons from a case series

Abstract

Mucolipidosis (ML) II and III are complex lysosomal storage disorders characterized by progressive multisystem pathology which can pose challenges to the anesthetist and increase the risks associated with general anesthesia. We sought to review the management of patients with ML II and III undergoing anesthesia in our institution in order to better define recommendations for the preoperative assessment and optimization of these children. We further elected to analyze the conduct of anesthesia, intraoperative management, and perioperative complications that our patients had experienced in order to allow improved informed consent and anesthetic planning. We performed a retrospective examination of the medical notes of those patients who had undergone anesthesia in our institution to identify their clinical features, anesthetic technique, airway management, and perioperative complications. Five children underwent 11 episodes of anesthesia. Fiber‐optic or videolaryngoscopy was utilized in six out of seven intubations, with four out of seven requiring a change from the method initially chosen to enable intubation. Four of the five patients had an abnormal echocardiogram. Three patients had radiological evaluation of their cervical spine, with two demonstrating abnormalities. One patient had changes suggesting instability at the atlantoaxial junction. Children and babies with ML II and III present multisystem challenges to the anesthetist. Multidisciplinary planning and assessment, followed by a discussion of risk, should proceed any elective surgery. These complex children should undergo elective anesthesia delivered by an experienced (pediatric) anesthetist in an appropriate tertiary center with on‐site pediatric ENT and critical care support.

Anaesthesia-Relevant Disease Manifestations and Perianaesthetic Complications in Patients with Mucolipidosis—A Retrospective Analysis of 44 Anaesthetic Cases in 12 Patients

“…The present study is the largest published case series of patients with ML undergoing anaesthesia [11,12]. Furthermore, it is the first study to assess the full extent of anaesthesia-relevant multiorgan manifestations in this particularly rare disease.…”

“…The OSA turned out to be progressive with the eventual need for NIV in all children, which was inevitable with upper airway surgery (adenotonsillectomy). This can be explained by the multiple-level airway obstruction by the accumulation of undigested substrates in various body tissues leading to a hypertrophic tongue base, adenotonsillar hypertrophy, a thickened and retroflexed epiglottis, a thickened and anteriorly placed larynx, subglottic stenosis and a generally narrow and possibly curved trachea [12,15,24,25]. The craniofacial abnormalities, particularly the flat face and the depressed nasal bridge, also predispose patients to OSA, and cervical spine stenosis may precipitate central apnoea [26].…”

“…Due to their multiorgan morbidity, patients with ML frequently require anaesthesia for diagnostic or surgical interventions [7,11,12]. The patients in our study cohort had a median of three anaesthesias at our centres.…”

“…For patients with MPS, these symptoms are known to be associated with a high risk of morbidity and mortality when undergoing general anaesthesia [10]. Direct laryngoscopy is especially challenging in these patient groups, causing high rates of failed airway management and cardiorespiratory events [11,12].…”

“…Thus far, anaesthesia-related complications have only been explored in single case reports [13,14] and small case series [12,15,16] of ML patients. Despite a suspected high incidence of complications in ML, a comprehensive analysis has not yet been performed.…”