Phosphomannomutase-2 deficiency-congenital disorder of glycosylation (PMM2-CDG), congenital
disorder of glycosylation type-Ia or Jaeken syndrome (MIM #601785) is an autosomal recessive inherited condition of abnormal glycosylation of N-linked
oligosaccharides [
[1]
]. Disease course is variable, ranging from infantile forms with multisystem involvement
and a childhood-adult ataxia-intellectual disability type with neurologic stable form
[
1
,
2
]. The phenotypic spectrum includes morphological abnormalities, ataxia, developmental
delay, strabismus, retinopathy, seizures, stroke-like episodes, peripheral neuropathy,
hypergonadotropic hypogonadism and thrombotic events [
2
,
3
]. Brain imaging displays cerebellar and brainstem atrophy. We describe two sisters
with PMM2-CDG that present with cervical dystonia that to our knowledge has not been
previously reported.Keywords
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References
- Neurology of inherited glycosylation disorders.Lancet Neurol. 2012; 11: 453-466
- A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.J. Neurol. 2015; 262: 154-164
- 29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.Orphanet J. Rare Dis. 2014; 9: 207
- Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutation.Eur. J. Pediatr. 2003; 162: 710-713
- PMM2-CDG (CDG-Ia) in: genereviews at genetests medical genetics information resource.(Available at)http://www.genetests.org(Accessed 20 January 2017)Date: 2016
Article info
Publication history
Published online: April 23, 2017
Accepted:
April 21,
2017
Received in revised form:
March 31,
2017
Received:
January 26,
2017
Identification
Copyright
© 2017 Elsevier B.V. All rights reserved.
