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Cerebellar atrophy in a patient with velocardiofacial syndrome.
  1. D R Lynch,
  2. D M McDonald-McGinn,
  3. E H Zackai,
  4. B S Emanuel,
  5. D A Driscoll,
  6. L A Whitaker,
  7. K H Fischbeck
  1. Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, USA.


    Velocardiofacial syndrome and DiGeorge syndrome have not previously been associated with central nervous system degeneration. We report a 34 year old man who presented for neurological evaluation with cerebellar atrophy of unknown aetiology. On historical review, he had neonatal hypocalcaemia, an atrial septal defect, and a corrected cleft palate. His physical examination showed the characteristic facies of velocardiofacial syndrome as well as dysmetria and dysdiadocho-kinesia consistent with cerebellar degeneration. Molecular cytogenetic studies showed a deletion of 22q11.2. This man is the first reported patient with the association of a neurodegenerative disorder and 22q11.2 deletion syndrome.

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