Article
Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic
spectrum of the R141H/F119L genotype
S Kjaergaard, M Schwartz, F Skovby
Department of
Clinical Genetics, University Hospital, Rigshospitalet 4062, Blegdamsvej 9, DK-2100 Copenhagen, Denmark
Correspondence to: Dr Kjaergaard Susanne{at}rh.dk
Accepted 2 May 2001
AIMS
To delineate common and
variable features and outcome of children with congenital disorder of
glycosylation type Ia (CDG-Ia) caused by the frequent R141H/F119L
PMM2 genotype.
METHODSClinical data on 25 patients (mean age 7.6 years, range 0-19) were analysed.
RESULTSAll patients had an early
presentation with severe feeding problems and failure to thrive,
hypotonia, hepatic dysfunction, inverted nipples, and abnormal
subcutaneous fat pads. Eighteen patients were hospitalised in the
neonatal period. Developmental delay was obvious before age 6 months.
During the first seven months mean standard deviation score (SDS) for
weight and length decreased 2.7 (SD = 2) and 2.4 (SD = 2),
respectively. Mental retardation, ataxia, muscular atrophy, and febrile
seizures were consistent features after infancy. Variable features
included pericardial effusions, afebrile seizures, and stroke like
episodes. Computed tomography/magnetic resonance imaging of the brain
was normal in two patients examined before 4 months of age, but 18 children examined after 3 months of age had cerebellar atrophy, and 10 children also had supratentorial atrophy. Subsequent imaging showed
progression of the cerebellar and supratentorial atrophy in eight and
four of 10 children, respectively. Mean head circumference SDS declined
from zero to 
1.9 SD from age 3 months to 5 years. Motor ability
ranged from none to walking with a rolator, and vocabulary ranged from
none to comprehensible speech. The overall mortality ascribed to CDG-Ia
was 18%.
CONCLUSIONPatients with the
R141H/F119L genotype have an early uniform presentation including
severe failure to thrive, but their functional outcome is variable.
This genotype may well cause clinical manifestations in the severe end
of the spectrum of CDG-Ia.
Keywords: congenital disorder of glycosylation type Ia; phenotype; phosphomannomutase deficiency
© 2001 by Archives of Disease in Childhood
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