[Tuberous sclerosis without mental impairment, diagnosed in adulthood].
BACKGROUND
Tuberous sclerosis complex (TSC) is an autosomal dominant inherited phakomatosis, usually diagnosed in childhood and characterized by cutaneous and neurological tumors, the latter often leading to epilepsy and mental retardation.


METHODS
We report a case of TSC diagnosed in a 33-year-old man, without any known family history of phakomatosis, presenting with facial angiofibromas, hypomelanotic macules, a giant-cell astrocytoma and retinal phakomas without any mental impairment or epilepsy.


CONCLUSIONS
TSC may occur in patients who do not have any family history of phakomatosis because de novo mutations are frequent. TSC may be diagnosed in adulthood since a high phenotypic variability is observed. Facial angiofibromas are highly suggestive of tuberous sclerosis complex. They should lead to brain imaging in search for astrocytoma, subependymal nodules and cortical tubers which number is directly correlated with the risk of seizures and the degree of mental impairment.
Timotin
L
L
Département pluridisciplinaire de médecine, médecine interne, CHU de Grenoble, BP 217, 38043 Grenoble cedex 09, France.
Sarrot-Reynauld
F
F
Lantuejoul
S
S
Pasquier
B
B
Massot
C
C
Ashraf
A
A
Borgel
F
F
D000328:Adult; D001254:Astrocytoma / Q000175:diagnosis*; D001921:Brain / Q000473:pathology; D007839:Functional Laterality; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D008279:Magnetic Resonance Imaging; D008297:Male; D011618:Psychotic Disorders / Q000209:etiology; D014402:Tuberous Sclerosis / Q000209:etiology* / Q000235:genetics