Lysosomal Storage Disease

Authors

  • Binod Khatiwada Deurali Primary Health Centre, Deurali-8, Nuwakot
  • A Pokharel Kharanitar Primary Health Centre, Kharanitar, Nuwakot

DOI:

https://doi.org/10.31729/jnma.193

Abstract

We report a case of lysosomal storage disease diagnosed by lysosomal enzyme assay in a two year old
boy with a history of gradual onset of weakness of body, poor vision, fl accid neck and spasticity in all
four limbs with hyper-refl exia. On fundus examination cherry red spots were noted at macula. On
performing lysosomal enzyme assay, beta-galactosidase level was considerably low. This indicates
that the child is affected by lysosomal storage disease most likely GM1 gangliosidosis. The diagnosis
is important because the disease is rare and it may be missed as the symptoms are similar to other
neurological conditions and the diagnosis can help with future conception.
Key Words: beta-galactosidase, GM1 gangliosidosis, lysosomal storage disease

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Published

2009-07-01

How to Cite

Khatiwada, B., & Pokharel, A. (2009). Lysosomal Storage Disease. Journal of Nepal Medical Association, 48(175). https://doi.org/10.31729/jnma.193

Issue

Vol. 48 No. 175 (2009)

Section

Case Reports

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