Distinct patterns of respiratory difficulty in young children with achondroplasia: a clinical, sleep, and lung function study
a Paediatric
Intensive Care Unit, Great Ormond Street Hospital for Children, Great
Ormond Street, London WC1N 3JH, UK, b Portex Anaesthesia, Intensive Therapy and
Respiratory Medicine Unit, Institute of Child Health, London, UK
Correspondence to: Dr R C Tasker, Department of Paediatrics, University of Cambridge School of Clinical Medicine, Addenbrooke's Hospital, Hills Road, Cambridge CB2 2QQ, UK.
Accepted 30 March 1998
AIM
Achondroplasia can
result in respiratory difficulty in early infancy. The aim of this
study was to document lung growth during infancy, together with the
cause of any cardiorespiratory and sleep dysfunction.
PATIENTS AND
METHODSSeventeen prospectively ascertained
infants (14 boys and three girls) with respiratory symptoms starting
before 1 year of age underwent clinical, sleep, and lung function studies.
RESULTSThree distinct
groups were identified. Group 1 (n = 6) were the least symptomatic
and only had obstructive sleep apnoea. Group 2 (n = 6) had
obstructive sleep apnoea of muscular aetiology and, neurologically,
hydrocephalus and a small foramen magnum were common. Group 3 (n = 5), the most severely affected group, all developed cor
pulmonale, with three deaths occurring as a result of terminal
cardiorespiratory failure. All five had obstructive sleep apnoea
with a muscular aetiology (a small foramen magnum predominated) with
severe or moderately severe gastro-oesophageal reflux. Initially, lung
function studies found no evidence of restriction or reduced lung
volumes standardised according to weight. However, with growth these
infants had worsening function, with raised airway resistance and
severe reductions in respiratory compliance.
CONCLUSIONSThese
groups appear to be distinct phenotypes with distinct anatomical
aetiologies: "relative" adenotonsillar hypertrophy, resulting from
a degree of midfacial hypoplasia (group 1); muscular upper airway
obstruction along with progressive hydrocephalus, resulting from
jugular foramen stenosis (group 2); and muscular upper airway
obstruction, but without hydrocephalus, resulting from hypoglossal
canal stenosis with or without foramen magnum compression and no
jugular foramen stenosis (group 3). The aetiology of these
abnormalities is consistent with localised alteration of chondrocranial
development: rostral, intermediary and caudal in groups 1, 2, and
3, respectively.
© 1998 by Archives of Disease in Childhood
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