Abstract
18p- syndrome from chromosomal deletion of the short arm of chromosome 18 shows a wide range of clinical manifestations. Mental retardation is the most frequent neurological complication; other neurological deficits are more rarely reported. Only one 18p- patient with focal dystonia at the lower limbs has been reported, while there have beenno reported cases of generalized dystonia. We report a 27-year-old male with 18p-de novo complete deletion (karyotype 46,XY,18p-) who was affected by severe generalized dystonia, hypokinesia, mental retardation and dysmorphic features. The 18p- syndrome should be added to the list of genetic causes of secondary dystonia. A karyotype analysis should be considered in secondary dystonias, particularly when there are associated dysmorphic features and mental retardation.
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Tezzon, F., Zanoni, T., Passarin, M.G. et al. Dystonia in a patient with deletion of 18p. Ital J Neuro Sci 19, 90–93 (1998). https://doi.org/10.1007/BF02427563
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DOI: https://doi.org/10.1007/BF02427563