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.
Original language | English |
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Pages (from-to) | 270-272 |
Number of pages | 3 |
Journal | Brain and Development |
Volume | 37 |
Issue number | 2 |
DOIs | |
Publication status | Published - Feb 1 2015 |
Keywords
- Cerebellar atrophy
- Downbeat nystagmus
- Infantile neuroaxonal dystrophy (INAD)
- PLA2G6 gene
ASJC Scopus subject areas
- Clinical Neurology
- Developmental Neuroscience
- Pediatrics, Perinatology, and Child Health
- Medicine(all)