The Indian Journal of Pediatrics

, Volume 84, Issue 5, pp 403–404

Sialidosis Type 1 with a Novel Mutation in the Neuraminidase-1 (NEU1) Gene

  • Vykuntaraju K. Gowda
  • Varun M. Srinivasan
  • Naveen Benakappa
  • Asha Benakappa
Clinical Brief

DOI: 10.1007/s12098-016-2286-9

Cite this article as:
Gowda, V.K., Srinivasan, V.M., Benakappa, N. et al. Indian J Pediatr (2017) 84: 403. doi:10.1007/s12098-016-2286-9

Abstract

A patient with Sialidosis type 1 with a novel variation in neuraminidase-1 (NEU1) is described. The patient developed ataxia and myoclonus at 9 y of age. He was born to a second degree consanguineous marriage couple. On examination child had cerebellar signs and bilateral macular cherry-red spots. MRI of the brain and electroencephalogram were normal. The enzyme analysis revealed deficiency of neuraminidase. Genetic analysis identified novel homozygous missense mutation c.742G > T (p.G248C) in exon 4 of NEU1 gene. At 13 y of age, the ataxia and had myoclonus progressed.

Keywords

Ataxia Cherry-red spot Myoclonus Neuraminidase Sialidosis 

Copyright information

© Dr. K C Chaudhuri Foundation 2017

Authors and Affiliations

  • Vykuntaraju K. Gowda
    • 1
    • 2
  • Varun M. Srinivasan
    • 1
  • Naveen Benakappa
    • 1
  • Asha Benakappa
    • 1
  1. 1.Department of PediatricsIndira Gandhi Institute of Child HealthBangaloreIndia
  2. 2.Bangalore Child Neurology and Rehabilitation CenterBangaloreIndia

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