Downbeat nystagmus as the presenting symptom of infantile neuroaxonal dystrophy: a case report

Brain Dev. 2015 Feb;37(2):270-2. doi: 10.1016/j.braindev.2014.04.010. Epub 2014 May 5.

Abstract

Infantile neuroaxonal dystrophy is a rare neurodegenerative disorder characterized by infantile onset and rapid progression of psychomotor regression and hypotonia evolving into spasticity and dementia. Although nystagmus is a well-established neurological sign in infantile neuroaxonal dystrophy, it is mainly described as pendular and noticed in later stages of the disease. We report a 13-month-old girl with infantile neuroaxonal dystrophy harboring a compound heterozygous mutation in the PLA2G6 gene with downbeat nystagmus as the only presenting symptom. Our case indicates that downbeat nystagmus can be a rare but very early onset sign of cerebellar involvement in infantile neuroaxonal dystrophy and can anticipate the appearance of psychomotor regression and neuroradiological abnormalities.

Keywords: Cerebellar atrophy; Downbeat nystagmus; Infantile neuroaxonal dystrophy (INAD); PLA2G6 gene.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Atrophy / pathology
  • Cerebellum / pathology
  • Female
  • Group VI Phospholipases A2 / genetics
  • Humans
  • Magnetic Resonance Imaging
  • Mutation / genetics
  • Neuroaxonal Dystrophies / physiopathology*
  • Nystagmus, Pathologic / diagnosis*
  • Nystagmus, Pathologic / genetics

Substances

  • Group VI Phospholipases A2
  • PLA2G6 protein, human