[A case of 7q distal trisomy syndrome associated with West syndrome]

Abstract

We report a five-year-old girl with 7q distal trisomy syndrome. At the age of five months, West syndrome was diagnosed based on electroencephalogram (EEG) findings. Her EEG showed occipital dominant spikes and diffuse multiple spike-wave complexes which continued almost continuously (modified hypsarrhythmia). Brief generalized tonic seizures were observed in series fashion, lasting for 5-10 minutes. She has some dysmorphic features including hypertelorism, bifid uvula, long philtrum, and dysplastic ears. Chromosome analysis by the spectral karyotyping method revealed that her karyotype was 46,XX,der(20)t(7;20) (q32.3;q13.33) de novo. To our knowledge, there are 23 reported cases of 7q distal trisomy syndrome with a breakpoint on q32, among which two sibling cases had epileptic seizures. Our case is the first case complicated by West syndrome.