Mucolipidosis type II and type III: a systematic review of 843 published cases

Dogterom, Emma J.; Wagenmakers, Margreet A.E.M.; Wilke, Martina; Demirdas, Serwet; Muschol, Nicole; Pohl, Sandra; Meijden, Jan C. van der; Rizopoulos, Dimitris; Ploeg, Ans T. van der; Oussoren, Esmée

doi:10.1038/s41436-021-01244-4

Cited by 19 publications

(32 citation statements)

References 31 publications

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“…The present study specifies various disease manifestations relevant for anaesthesia planning. Although cardiorespiratory complications are widely known to be the leading cause of death in MLII [5], detailed data on the cardiac manifestations are sparse in the current literature [6,7]. Our study found frequent valve insufficiency and hypertrophic and dilated cardiomyopathy in the longer-surviving children, which is in agreement with previous reports [21,22].…”

Section: Discussionsupporting

confidence: 92%

“…2 of 15 MLII is a rapidly progressing multi-systemic disease form with a fatal outcome, usually due to cardiorespiratory complications, within the first decade of life. Patients with MLIII commonly reach adulthood [5]. They present a later onset of symptoms, slower disease progression, and predominant skeletal symptoms [6,7].…”

Section: Introductionmentioning

confidence: 99%

“…These patients are characterized by somatic findings similar to but slightly milder than MLII. The estimated incidence of MLII and III globally ranges from 0.22 to 2.70 per 100,000 live births [5]. No curative therapy is yet available [4].…”

Section: Introductionmentioning

confidence: 99%

“…The overlapping progressive symptoms comprise craniofacial dysmorphism (i.e., flat face, shallow orbits, depressed nasal bridge, macroglossia), a short neck, respiratory insufficiency and upper airway obstruction, sleep apnoea, cardiac dysfunction, skeletal deformities (e.g., growth impairment, spine and chest deformity), and neurocognitive delay. Radiological features are subsumed as dysostosis multiplex [4][5][6]8,9]. For patients with MPS, these symptoms are known to be associated with a high risk of morbidity and mortality when undergoing general anaesthesia [10].…”

Section: Introductionmentioning

confidence: 99%

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

Ammer

Muschol

Santer

et al. 2022

JCM

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Mucolipidosis (ML) type II, intermediate, and III are lysosomal storage disorders with progressive multiorgan manifestations predisposing patients to a high risk of perioperative morbidity. The aims of the study were to systematically assess disease manifestations relevant to anaesthesia as well as anaesthesia-related complications. This retrospective study includes ML patients who underwent anaesthesia in two centres between 2008 and 2022. We reviewed patients’ demographics, medical history, disease manifestations, as well as procedure- and outcome-related data. A total of 12 patients (7 MLII, 2 ML intermediate, 3 MLIII) underwent 44 anaesthesia procedures (per patient: median 3, range 1–11). The median age was 3.3 years (range 0.1–19.1). At least one complication occurred in 27.3% of the anaesthesia procedures. The vast majority of complications (94%) occurred in children with MLII and ML intermediate. A predicted difficult airway was found in 100% and 80% of the MLII and ML intermediate patients, respectively. Accordingly, most complications (59%) occurred during the induction of anaesthesia. Altogether, respiratory complications were the most frequent (18%), followed by difficult airway management (14%). The risk for anaesthesia-related complications is alarmingly high in patients with ML, particularly in those with MLII and ML intermediate. Multidisciplinary risk–benefit analysis and thoughtful anaesthesia planning are crucial in these patients.

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Section: Discussionsupporting

confidence: 92%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

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

Ammer

Muschol

Santer

et al. 2022

JCM

View full text Add to dashboard Cite

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“…The present mini-review focuses only on the results of in vitro toxicity studies following the PRISMA statements, a set of elements aimed to help authors how to perform and report systematic reviews, 73 broadly used in the biomedical eld (the methodology and search strategy are described in the next chapter in more details). [74][75][76] The central part of the present work is divided into three chapters. Each chapter discusses in detail one of the critical parameters applied for original references classication.…”

Section: Introductionmentioning

confidence: 99%