Abstract
Background: Inclusion cell disease (I-cell) is a rare autosomal recessive metabolic disease involving multiple organ systems, associated with a severely restricted life expectancy. No curative therapy is currently available, with management aimed at symptom palliation.
Methods: We present a retrospective, single-centre, case series of children referred to a tertiary paediatric metabolic service. The clinical presentation, demographics, genetics and natural history of the condition are investigated.
Results: Five patients with I-cell disease were referred over a 10-year period. All patients were born with dysmorphic features and had a family history of I-cell disease on further exploration. Phenotypic variation was seen within patients with the same genetic profile. Airway problems were common with 100% of the documented sleep oximetry studies suggesting sleep-disordered breathing. Of the two patients who had tracheal intubation anaesthetic difficulties we encountered, one required intraoperative reintubation, and one suffered a failed intubation with subsequent death. All five patients required oxygen therapy with the use of CPAP and BiPAP also seen. Feeding issues were almost universal with four of the five patients requiring nasogastric feeding. Four patients had died in the 10-year period with a mean life expectancy of 36 months. Cause of death for three of the four patients was respiratory failure.
Conclusions: Airway problems, including sleep-disordered breathing, were ubiquitous in this cohort of children. Any intervention requiring a general anaesthetic needs careful multidisciplinary consideration due to significant associated risks and possibly death. Management as a result is generally non-surgical and symptomatic. This case series demonstrates universal involvement of the airway and respiratory systems, an important consideration when selecting meaningful outcomes for future effectiveness studies of novel therapies.
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Abbreviations
- BiPAP:
-
Bilevel positive airway pressure
- CPAP:
-
Continuous positive airway pressure
- ECHO:
-
Echocardiogram
- LMA:
-
Laryngeal mask airway
- NGT:
-
Nasogastric tube
- ODI:
-
Oxygen deprivation index
- OSA:
-
Obstructive sleep apnoea
- PDA:
-
Patent ductus arteriosus
- PEG:
-
Percutaneous endoscopic gastrostomy
- SDB:
-
Sleep-disordered breathing
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Communicated by: Roberto Giugliani, MD, PhD
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Summary
Readers will gain an insight into the presenting features of I-cell disease with a detailed discussion of the airway and respiratory manifestations of the disease including a discussion over appropriate management approaches.
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Informed consent was obtained from all patients for which identifying information is included in this article.
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All data generated or analysed during this study are included in the published article.
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Authors’ Contributions
Edmiston, R. – Data collection, interpretation and primary author.
Wilkinson, S. – Data interpretation and draft review. Senior author respiratory section.
Jones, S. – Data interpretation and draft review. Senior author genetics section.
Tylee, K. – Data interpretation and genetic analysis
Broomfield, A. – Genetic analysis.
Bruce, I. A. – Data collection, interpretation and senior reviewing author.
All authors read and approved the final article.
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Edmiston, R., Wilkinson, S., Jones, S., Tylee, K., Broomfield, A., Bruce, I.A. (2018). I-Cell Disease (Mucolipidosis II): A Case Series from a Tertiary Paediatric Centre Reviewing the Airway and Respiratory Consequences of the Disease. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 45. JIMD Reports, vol 45. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2018_130
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DOI: https://doi.org/10.1007/8904_2018_130
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