CEREBELLAR ATROPHY IN A PATIENT WITH VELOCARDIOFACIAL SYNDROME

Velocardiofacial syndrome and DiGeorge syndrome have not previously be en associated with central nervous system degeneration. We report a 34 year old man who presented for neurological evaluation with cerebella r 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 velocard iofacial syndrome as well as dysmetria and dysdiadochokinesia consiste nt 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 synd rome.