Feasibility of genetic testing for tuberous sclerosis in a 13-year-old boy

Abstract

1016-3190/$ e see front matter Copyright 2011, Bu doi:10.1016/j.tcmj.2011.12.002 A 13-year-old boy was brought to a genetic counseling clinic for a tuberous sclerosis complex (TSC) gene test by hismother whowas affected by TSC. The boy’s mother had facial angiofibromas, multiple periungual fibromas, shagreen patches over her lower back, and hypomelanotic macules (ash leaf) over the left side of her waist (Fig. 1). The boy’s family history revealed that his 17-year-old brother was also affected by TSC with facial angiofibromas, a left index finger periungual fibroma, shagreen patches over the right lower abdomen, and de-pigmented lesions over the left lower back. Both the mother and the elder brother had their tuberous sclerosis 1 (TSC1) gene sequenced directly from peripheral blood leukocyte