Skip to main content
SpringerLink
Log in

Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I

  • Original Communication
  • Published:
Journal of Neurology Aims and scope Submit manuscript

Abstract

The carbohydrate-deficient glycoprotein (CDG) syndromes are a group of genetic multisystem disorders with invariable involvement of the nervous system including severe olivopontocerebellar atrophy. We report two sets of sibs in whom the diagnosis of CDG syndrome type 1 was recognized at an older age because of marked olivopontocerebellar atrophy seen on MRI. Previous CT findings were interpreted as showing Dandy-Walker malformation. Three of the patients are also among the oldest reported with this syndrome.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Akaboshi S, Ohno K, Takeshita K (1995) Neuroradiological findings in the carbohydrate-deficient glycoprotein syndrome. Neuroradiology 37: 491–495

    PubMed  Google Scholar 

  2. Barth PG (1993) Pontocerebellar hypoplasia: an overview of a group of inherited neurodegenerative disorders with fetal onset. Brain Dev 15: 411–413

    PubMed  Google Scholar 

  3. Barth PG, Vrensen GF, Uylings HB, Oorthuys JB, Stam FC (1990) Inherited syndrome of microcephaly, dyskinesia and pontocerebellar hypoplasia: a systemic atrophy with early onset. J Neurol Sci 97: 25–42

    PubMed  Google Scholar 

  4. Clayton PT, Winchester BG, Keir G (1992) Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate-deficient glycoprotein syndrome. J Inherit Metab Dis 15: 857–861

    PubMed  Google Scholar 

  5. De Zegher F, Jaeken J (1995) Endocrinology of the carbohydrate-deficient glycoprotein syndrome type I from birth through adolescence. Pediatr Res 37: 395–401

    PubMed  Google Scholar 

  6. Fiumara A, Barone R, Buttitta P, Di Pietro M, Scuderi A, Nigro F, Jaeken J (1994) Carbohydrate deficient glycoprotein syndrome type I: ophthalmic aspects in four Sicilian, patients. Br J Ophthalmol 78: 845–846

    PubMed  Google Scholar 

  7. Hagberg B, Blennow G, Kristiansson B, Stibler H (1993) Carbohydrate-deficient glycoprotein syndromes: peculiar group of new disorders. Pediatr Neurol 9: 255–262

    PubMed  Google Scholar 

  8. Holzbach U, Hanefeld F, Helms G, Hänicke W, Frahm J (1995) Localized proton magnetic resonance spectroscopy of cerebral abnormalities in children with carbohydrate-deficient glycoprotein syndrome. Acta Paediatr 84: 781–786

    PubMed  Google Scholar 

  9. Horslen SP, Clayton PT, Harding BN, Hall NA, Keir G, Winchester BG (1991) Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome. Arch Dis Child 66: 1027–1032

    PubMed  Google Scholar 

  10. Jaeken J, Carchon H (1993) The carbohydrate-deficient glycoprotein syndromes: an overview. J Inherit Metab Dis 16: 813–820

    PubMed  Google Scholar 

  11. Jaeken J, Stibler H, Hagberg B (1991) The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement. Acta Paediatr Scand [Suppl] 375: 1–71

    Google Scholar 

  12. Jaeken J, Carchon H, Stibler H (1993) The carbohydrate-deficient glycoprotein syndromes: pre-Golgi or Golgi disorders? Glycobiology 3: 423–428

    PubMed  Google Scholar 

  13. Jaeken J, Schachter H, Carchon H, De Cock P, Coddeville B, Spik G (1994) Carbohydrate-deficient glycoprotein syndrome type II: a deficiency in Golgi localized N-acetylglucosaminyl-transferase II. Arch Dis Child 71: 123–127

    PubMed  Google Scholar 

  14. Jensen PR, Hansen FJ, Skovby F (1995) Cerebellar hypoplasia in children with the carbohydrate-deficient glycoprotein syndrome. Neuroradiology 37: 328–330

    PubMed  Google Scholar 

  15. Martinsson T, Bursell C, Stibler H, Kristiansson B, Skovby F, Jaeken J Blennow G, Strömme P, Hanefeld F, Wahlström J (1994) Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D 16S406. Hum Mol Genet 3: 2037–2042

    PubMed  Google Scholar 

  16. Nordborg C, Hagberg B, Kristiansson B (1991) Sural nerve pathology in the carbohydrate-deficient glycoprotein syndrome. Acta Paediatr Scand [Suppl] 375: 39–49

    Google Scholar 

  17. Petersen MB, Brostrom K, Stibler H, Skovby F (1993) Early manifestations of the carbohydrate-deficient glycoprotein syndrome. J Pediatr 122: 66–70

    PubMed  Google Scholar 

  18. Stibler H, Jaeken J (1990) Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome. Arch Dis Child 65: 107–111

    PubMed  Google Scholar 

  19. Stibler H, Westerberg B, Hanefeld F, Hagberg B (1993) Carbohydrate-deficient glycoprotein (CDG) syndrome — a new variant, type III.Neuropediatrics 24: 51–52

    PubMed  Google Scholar 

  20. Stibler H, Blennow G, Kristiansson B, Lindehammer H, Hagberg B (1994) Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease. J Neurol Neurosurg Psychiatry 57: 552–556

    PubMed  Google Scholar 

  21. Stibler H, Stephani U, Kutsch U (1995) Carbohydrate-deficient glycoprotein syndrome — a fourth subtype. Neuropediatrics 26: 235–237

    PubMed  Google Scholar 

  22. Stromme P, Maehlen J, Strom EH, Torvik A (1991) Postmortem findings in two patients with the carbohydratedeficient glycoprotein syndrome. Acta Paediatr Scand [Suppl] 375: 55–62

    Google Scholar 

  23. Van Geet C, Jaeken J (1993) A unique pattern of coagulation abnormalities in carbohydrate deficient glycoprotein syndrome. Pediatr Res 33: 540–541

    PubMed  Google Scholar 

  24. Van Schaftingen E, Jaeken J (1995) Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I. FEBS Lett 377: 318–320

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Pediatrics, University of Catania, Viale A. Doria, 6, I-95100, Catania, Italy

    Lorenzo Pavone, Agata Fiumara, Rita Barone & Renata Rizzo

  2. Department of Neonatology, G. Cristina Hospital, Palermo, Italy

    Piera Buttitta

  3. Department of Neurology, Division of Pediatric Neurology, University of Minnesota, Minneapolis, Minnesota, USA

    William B. Dobyns

  4. Department of Paediatrics, Centre for Metabolic Diseases, University of Leuven, Leuven, Belgium

    Jaak Jaeken

Authors
  1. Lorenzo Pavone
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Agata Fiumara
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Rita Barone
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Renata Rizzo
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Piera Buttitta
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. William B. Dobyns
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Jaak Jaeken
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Pavone, L., Fiumara, A., Barone, R. et al. Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I. J Neurol 243, 700–705 (1996). https://doi.org/10.1007/BF00873975

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00873975

Key words

Search

Navigation