PO081 Myoclonus dystonia and russell-silver syndrome in a patient with a microdeletion of chromosome 7q

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Abstract

Myoclonus Dystonia is associated with a mutation in the epsilon sarcoglycan gene (SGCE – DYT-11). Russell-Silver syndrome is characterised by intrauterine growth restriction, poor postnatal growth, relative macrocephaly, triangular facial appearance and fifth finger clinodactyly. It is associated with maternal uniparental disomy of chromosome 7 (mUPD 7) in 5%–10% of cases. Previous cases of myoclonus dystonia associated with Russell-Silver syndrome have been reported in patients with mUPD 7. We report a case of myoclonus dystonia and Russell-Silver syndrome in a 41 year old man with a microdeletion of chromosome 7q. The patient was born full term but was of low birth weight. He suffered from myoclonus from the age of four. Presenting to adult neurology aged 18 he was of small stature, had dysmorphic features and had multifocal myoclonus that was action-induced, stimulus-sensitive and alleviated by alcohol. Investigations for mitochondrial disorders and other causes of progressive myoclonic epilepsy were negative. At age 35 he was found to have mild torticollis and a chromosomal microarray showed a deletion of 35 genes, including SGCE. We propose that this gentleman fulfils the criteria for Russell-Silver syndrome and that this is associated with his chromosomal microdeletion, which was discovered on investigation of his movement disorder.

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