I-Cell Disease (Mucolipidosis II): A Case Series from a Tertiary Paediatric Centre Reviewing the Airway and Respiratory Consequences of the Disease

Edmiston, Rachel; Wilkinson, Stuart; Jones, Simon A.; Tylee, Karen; Broomfield, Alexander; Bruce, Iain

doi:10.1007/8904_2018_130

Cited by 10 publications

(16 citation statements)

References 14 publications

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“…The vast majority (89%) of the MLII and intermediate patients of this cohort suffered from sleep apnoea, which is in line with two case series [16,23] on sleep-disordered breathing in patients with MLII or intermediate, of whom 100% were documented to have obstructive sleep apnoea (OSA). The OSA turned out to be progressive with the eventual need for NIV in all children, which was inevitable with upper airway surgery (adenotonsillectomy).…”

Section: Discussionsupporting

confidence: 88%

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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: 88%

“…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.…”

Section: Introductionmentioning

confidence: 99%

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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“…All of the patients in our series were eventually successfully intubated with no complications except for one patient who required inhaled salbutamol for an episode of bronchospasm which rapidly resolved. Edmiston et al 12 however describe the case of a 2‐year child with I‐cell disease who developed rapidly progressive respiratory failure due to bronchiolitis. Attempts to intubate this child in the District General Hospital failed, and she subsequently died.…”

Section: Discussionmentioning

confidence: 99%

“…Difficulty with airway management has been widely reported in the literature 3–10 and is multifactorial; storage material deposits in the airway of MLII patients have been described causing thickening of the epiglottis, larynx, trachea, and tongue base 3,11 . One series of patients with MLII found that 100% studied patients had sleep‐disordered breathing 12 . Patients may have musculoskeletal malformations such as kyphoscoliosis, limited neck extension, and cervical spine instability.…”

Section: Mucolipidosis II and Iiimentioning

confidence: 99%

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

Scott-Warren

Walker

2020

Pediatric Anesthesia

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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.

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“…MLIIIα/β is a later-onset form which is typically diagnosed around three years of age and has slower progression [ 1 , [10] , [11] , [12] , [13] , [14] ]. Those with MLIIIα/β typically live into early adulthood, while most patients with MLII die in early childhood, usually with respiratory compromise [ 15 ]. Genotype-phenotype correlation has been established in MLII and MLIIIα/β.…”

Section: Introductionmentioning

confidence: 99%

Placental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infant

Wongkittichote

Upchurch

Dehner

et al. 2021

Molecular Genetics and Metabolism Reports

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Mucolipidosis type II (MLII, MIM 252500 ) is a lysosomal storage disorders caused by defects in GNPTAB gene which encodes alpha and beta subunits of N -acetylglucosamine (GlcNAc)-1-phosphotransferase. Neonatal presentation includes coarse facial features, restricted postnatal growth, generalized hypotonia, gingival hypertrophy and multiple skeletal anomalies. Here we present a case of a 26-week gestational age preterm infant with MLII who did not exhibit the typical facial features at birth; however, the diagnosis was suggested from abnormal placental pathology showing trophoblastic lipidosis and initial skeletal abnormalities from chest radiograph revealing generalized diffuse severe bone demineralizing disease and multiple fractures. Biochemical testing revealed elevation of plasma lysosomal enzymes. Homozygous pathogenic variant, designated c.3505_3504del, was discovered from GNPTAB sequencing. Her course was complicated by respiratory distress, secondary hyperparathyroidism, abdominal distention and feeding difficulties. Urine mucopolysaccharides analysis revealed mild elevation of total and individual glycosaminoglycan species in a non-specific pattern. To our knowledge, our case is the most premature example of mucolipidosis type II that has ever been reported to date. This report highlights the importance of placental pathological studies in the diagnosis of lysosomal storage disorders.

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I-Cell Disease (Mucolipidosis II): A Case Series from a Tertiary Paediatric Centre Reviewing the Airway and Respiratory Consequences of the Disease

Cited by 10 publications

References 14 publications

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

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

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

Placental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infant

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