[Characteristics of tuberous sclerosis in children].
Tuberous sclerosis complex is a genetic multisystem disease characterized by hamartic development of many organs, most notably the brain, heart, kidneys, lungs, and skin. This autosomic dominant disorder results from mutations in one of two genes, TSC1 and TSC2, coding for hamartin and tuberin, respectively. The hamartin-tuberin complex inhibits the mammalian target of rapamycin pathway, which controls cell growth and proliferation. The clinical presentation is highly variable and most features of tuberous sclerosis become evident only in childhood after the child is several years of age, limiting their usefulness for early diagnosis. The aim of this article is to define the pediatric clinical manifestations of tuberous sclerosis in correlation with patient age. Sometimes, a prenatal diagnosis can be made based on fetal ultrasound and MRI, which show cardiac and brain lesions. However, newborns are most often asymptomatic. In the 1st year, seizures are the most common symptoms, with a high incidence of infantile spasms. In children between 2 and 10 years of age, neurological symptoms are the most frequent with epilepsy, mental retardation, and autism, but extraneurological manifestations can be diagnosed. In adolescents, most features of tuberous sclerosis become evident and renal and pulmonary manifestations must be sought. The knowledge of age-dependent clinical features of tuberous sclerosis can provide an earlier diagnosis and improve the management of these patients with a special role for multidisciplinary consultation.
Riquet
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A
Service de neuropédiatrie, pôle enfant, hôpital Roger-Salengro, CHRU de Lille, université Lille-Nord-de-France, rue du professeur Emile-Lainé, 59037 Lille cedex, France. audrey.riquet@chru-lille.fr
Cuisset
J-M
JM
Cuvellier
J-C
JC
Joriot
S
S
Petit
F
F
Vallée
L
L
D000293:Adolescent; D000465:Algorithms; D001321:Autistic Disorder / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D042241:Early Diagnosis; D004827:Epilepsy / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D009154:Mutation; D012640:Seizures / Q000235:genetics; D013036:Spasms, Infantile / Q000235:genetics; D014402:Tuberous Sclerosis / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics*; D016216:Ultrasonography, Prenatal
C000624650:TSC1 protein, human; C000624653:TSC2 protein, human; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins