Skip to main content

Advertisement

Log in

A Young Infant with Joint Swellings and Subcutaneous Nodules

  • Picture of the Month
  • Published:
Indian 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

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

Instant access to the full article PDF.

Fig. 1

References

  1. Gatt S. Enzymic hydrolysis and synthesis of ceramides. J Biol Chem. 1963;238:3131–3.

    Article  CAS  Google Scholar 

  2. Bashyam MD, Chaudhary AK, Kiran M, et al. Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation. Clin Genet. 2014;86:530–8.

    Article  CAS  Google Scholar 

  3. Yu FPS, Amintas S, Levade T, Medin JA Acid ceramidase deficiency: Farber disease and SMA-PME. Orphanet J Rare Dis 2018;13:121.

  4. Ehlert K, Levade T, Di Rocco M, et al. Allogeneic hematopoietic cell transplantation in Farber disease. J Inherit Metab Dis. 2019;42:286–94.

    Article  CAS  Google Scholar 

  5. Schuchman EH, Mitchell J, Solyom A. Morbidity and mortality associated with Farber disease and prospects for therapy. Exp Opin Orphan Drugs. 2017;5:717–26.

    Article  CAS  Google Scholar 

Download references

Acknowledgements

The authors thank the patient and his family for their co-operation. They acknowledge the Perkin-Elmer laboratories who performed genetic analysis of the child.

Author information

Authors and Affiliations

Authors

Contributions

AC, BP, SBM, AS and SS: Clinical patient care and diagnostics; SS, SBM and AS: Evaluation and interpretation of metabolic, genetic, and neuroradiological results; AC, DG, SBM, AS and SS: Drafting and writing of the manuscript. SS is the guarantor for this paper.

Corresponding author

Correspondence to Suvasini Sharma.

Ethics declarations

Conflict of Interest

None.

Additional information

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Choudhary, A., Bijarnia-Mahay, S., Garg, D. et al. A Young Infant with Joint Swellings and Subcutaneous Nodules. Indian J Pediatr 88, 521–522 (2021). https://doi.org/10.1007/s12098-020-03270-7

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12098-020-03270-7

Navigation