Skip to main content
SpringerLink
Log in

An infant with methylmalonic aciduria and homocystinuria (cblC) presenting with retinal haemorrhages and subdural haematoma mimicking non-accidental injury

  • Short Report
  • Published:
European Journal of Pediatrics Aims and scope Submit manuscript

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

Fig. 1

References

  1. Hoffmann G, Naughton E (1998) Abuse or metabolic disorder. Arch Dis Child 78: 399

    CAS  Google Scholar 

  2. Hogeveen M, Blom HJ, van Amerongen M, Boogmans B, Beynum M, van der Bor M (2002) Hyperhomocysteinemia as risk factor for ischaemic and hemorrhagic stroke in newborn infants. J Pediatr 141: 429–431

    Article  PubMed  Google Scholar 

  3. Rosenblatt D, Aspler A, Shevell M, Pletcher B, Fenton W, Seashore M (1997) Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC). J Inherit Metab Dis 20: 528–538

    Article  CAS  PubMed  Google Scholar 

  4. Rossi A, Cerone R, Biancheri R, Gatti R, Schiaffino M, Fonda C, Zammarchi E (2001) Early-onset combined methylmalonic aciduria and homocystinuria: neuroradiologic findings. Am J Neuroradiol 22: 554–563

    CAS  PubMed  Google Scholar 

Download references

Acknowledgements

With thanks to David Rosenblatt who performed the fibroblast complementation studies.

Author information

Authors and Affiliations

  1. Eye Department, Guys Hospital, London, UK

    Peter J. Francis & David M. Calver

  2. Paediatric Laboratory, Chemical Pathology Department, Guys Hospital, London, UK

    Peter Barnfield

  3. The WellChild Trust Laboratory, Guys Hospital, London, UK

    Charles Turner & R. Neil Dalton

  4. Department of Paediatric Metabolic Medicine, Guys Hospital , 11th Floor Guy’s Tower, St. Thomas Street, SE1 9RT, London, UK

    Mike P. Champion

Authors
  1. Peter J. Francis
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. David M. Calver
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Peter Barnfield
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Charles Turner
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. R. Neil Dalton
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Mike P. Champion
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Mike P. Champion.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Francis, P.J., Calver, D.M., Barnfield, P. et al. An infant with methylmalonic aciduria and homocystinuria (cblC) presenting with retinal haemorrhages and subdural haematoma mimicking non-accidental injury. Eur J Pediatr 163, 420–421 (2004). https://doi.org/10.1007/s00431-004-1440-y

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00431-004-1440-y

Keywords

Search

Navigation