Cerebellar atrophy in a patient with velocardiofacial syndrome

Abstract

Velocardiofacial syndrome and DiGeorge syndrome have not previously been as-sociated with central nervous system de-generation. We report a 34 year old man who presented for neurological evaluation with cerebellar atrophy of unknown aeti-ology. On historical review, he had neo-natal hypocalcaemia, an atrial septal defect, and a corrected cleft palate. His physical examination showed the charac-teristic facies ofvelocardiofacial syndrome as weli as dysmetria and dysdiadocho-kinesia consistent with cerebelilar de-generation. Molecular cytogenetic studies showed a deletion of 22q11.2. This man is the first reported patient with the as-sociation of a neurodegenerative disorder and 22q11.2 deletion syndrome.