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

作者：Frattini Daniele^*; Nardocci Nardo; Pascarella Rosario; Panteghini Celeste; Garavaglia Barbara; Fusco Carlo

来源：Brain & Development, 2015, 37(2): 270-272.

DOI：10.1016/j.braindev.2014.04.010

• Infantile neuroaxonal dystrophy (INAD)
• PLA2G6 gene
• Downbeat nystagmus
• Cerebellar atrophy

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.

• 出版日期2015-2