Dystonia in a patient with deletion of 18p.
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 been no 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.
Neurology Division, Ospedale Civile Maggiore, Verona, Italy.
F
F
Tezzon
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T
Zanoni
M G
MG
Passarin
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G
Ferrari
D000328:Adult; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18; D004421:Dystonia / Q000235:genetics*; D019066:Facies; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010641:Phenotype