Clinical and Laboratory ObservationsCarbohydrate-deficient glycoprotein syndrome type 1a: A variant phenotype with borderline cognitive dysfunction, cerebellar hypoplasia, and coagulation disturbances☆
Section snippets
CASE REPORT
The patient is an 8-year-old son of non-consanguineous white parents, born at term after a normal pregnancy. His birth weight was 3250 g. No dysmorphism was observed, especially no inverted nipples and no fat pads. Length growth followed the 50th percentile, and weight evolution was between the 3rd and 10th percentiles. Examination at 9 months revealed bilateral convergent strabismus with intact range of eye movements on lateral rotation, spasmus nutans, hand dysmetria, and titubation. Cranial
DISCUSSION
Since the first report of a patient with CDG syndrome type 1a by Jaeken et al,1 about 200 patients have been identified. The clinical presentation of CDG syndrome type 1a is characterized by severe neurologic abnormalities, dysmorphism, and variable involvement of other organs.11, 12 The neurologic features are age-related. Hypotonia, muscular weakness, developmental retardation, and alternating esotropia and hyporeflexia can be observed in the neonatal and infantile periods. After infancy,
Acknowledgements
We thank G. Matthijs and J. J. Cassiman from the Centre for Human Genetics in Leuven for the mutation screening in the PMM2 gene, C. Dekker from the Laboratory of Genetic Metabolic Diseases in Amsterdam for determination of the residual activity of PMM in fibroblasts, and I. Postma from the Department of Psychology of Emma Children’s Hospital AMC for performing the Wechsler Intelligence Scale for Children-Revised test in the patient.
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2009, Biochimica et Biophysica Acta - Molecular Basis of DiseaseRisk assessment of acute vascular events in congenital disorder of glycosylation type Ia
2008, Molecular Genetics and MetabolismCongenital disorder of glycosylation type 1a: Three siblings with a mild neurological phenotype
2007, Journal of Clinical NeuroscienceCitation Excerpt :Mental retardation, memory impairment, and perceptual difficulties can create significant learning difficulty.10 The average intellectual quotient (IQ) commonly reported is in the 40–60 range.4,8,12 Other cases of CDG-Ia with mild intellectual impairment have been reported previously,1,12–14 with their receptive language and cognitive ability being stronger than motor abilities.15–17
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Reprint requests: C. H. van Ommen, MD, Academic Medical Centre/University of Amsterdam, Emma Children’s Hospital AMC/Department of Pediatric Hematology, PO Box 22700, 1100 DE, Amsterdam, The Netherlands.