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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

  • Rachel EdmistonEmail author
  • Stuart Wilkinson
  • Simon Jones
  • Karen Tylee
  • Alexander Broomfield
  • Iain A. Bruce
Research Report
Part of the JIMD Reports book series (JIMD, volume 45)

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.

Keywords

Airway I-cell disease Inclusion cell Mucolipidosis II Respiratory disorders 

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

Notes

Acknowledgements

Not applicable.

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Copyright information

© Society for the Study of Inborn Errors of Metabolism (SSIEM) 2018

Authors and Affiliations

  • Rachel Edmiston
    • 1
    Email author
  • Stuart Wilkinson
    • 2
  • Simon Jones
    • 3
  • Karen Tylee
    • 3
  • Alexander Broomfield
    • 3
  • Iain A. Bruce
    • 1
    • 4
  1. 1.Paediatric ENT DepartmentRoyal Manchester Children’s Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science CentreManchesterUK
  2. 2.Paediatric Respiratory DepartmentRoyal Manchester Children’s Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science CentreManchesterUK
  3. 3.Willink Biochemical Genetics UnitManchester Centre for Genomic Medicine, St. Mary’s Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science CentreManchesterUK
  4. 4.Division of Infection, Immunity and Respiratory Medicine, Faculty of Biology, Medicine and HealthUniversity of ManchesterManchesterUK

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