Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Infantile neuroaxonal dystrophy is a degenerative disease, mostly of nerve endings in the central and peripheral nervous system, with typical pathological findings. We describe a 3-year-old boy who had suffered from nystagmus, progressive muscle weakness and dementia since the age of 10 months. Biochemical work-up, MRI of the brain, and electrophysiological studies were within normal limits. Only skin biopsy, and sural nerve biopsy at a later stage, were diagnostic. We stress the importance of performing tissue biopsy even when intensive investigation is negative.
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PMID:[Infantile neuroaxonal dystrophy]. 146 83

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.
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PMID:Downbeat nystagmus as the presenting symptom of infantile neuroaxonal dystrophy: a case report. 2480 Sep 72