Tuberous sclerosis and Down syndrome: a casual association?
This paper reports on the clinical, neurophysiological and neuroradiological characteristics of a patient with Down syndrome unusually associated with tuberous sclerosis. In particular, epilepsy is investigated in detail and its polygraphic study and etiopathological factors are discussed. The most interesting findings are those related to the presence of a structural abnormality of the rolandic-parietal cortex, bilaterally, in the form of pachygyria.
Elia
M
M
OASI Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, Italy.
Musumeci
S A
SA
Ferri
R
R
Dalla Bernardina
B
B
Colamaria
V
V
Bergonzi
P
P
D000328:Adult; D004314:Down Syndrome / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology; D004569:Electroencephalography; D004576:Electromyography; D004585:Electrooculography; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D014057:Tomography, X-Ray Computed; D014402:Tuberous Sclerosis / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology