ABSTRACT
Report of a multidisciplinary study of patients affected with tuberous sclerosis, 8 of them males and 7 females, with ages ranging from 19 months to 23 years; 11 of these cases were sporadic, while the remaining 4 cases lacked information regarding family data. The following skin signs were observed: Pringle's adenoma in 9 cases; achromatic spots in 9 cases; periungueal fibroma in 3 cases. One of the patients had a heart tumor. Two patients had borderline intelligence, while the other 13 were mentally retarded of varying degrees. Epileptic seizures were present in 13 patients, atypical absence and tonus crises were frequent. Three of the patients had had infantile spasms in the first year of life as the first neurological symptom of the disease. Computer assisted axial tomography was performed in 7 cases and was positive in all of them, by revealing intracranial calcifications even in 4 cases in which the standard X-ray pictures had been silent about this eventuality.
Subject(s)
Tuberous Sclerosis , Adolescent , Adult , Child , Child, Preschool , Female , Humans , Infant , Male , Tuberous Sclerosis/complications , Tuberous Sclerosis/diagnosisABSTRACT
Sao apresentados os resultados de estudo multidisciplinar de 15 pacientes con esclerose tuberosa, 8 do sexo masculino e 7 do sexo feminino, com idades entre 19 meses e 23 anos; 11 foram considerados como casos esporadicos e, em 4, nao foi possivel precisar os antecedentes familiares.Foram observadas as seguintes manifestacoes cutaneas: adenoma de Pringle em 9 casos; manchas acromicas em 9 casos; fibroma periungueal em 3 casos. Dos 15 casos 13 apresentaram D.M., deficiencia mental, enquanto os outros 2 tinham inteligencia limitrofe. Com excecao de 2 pacientes, todos tinham crises epilepticas e os tipos de crises mais frequentemente observados foram as ausencias atipicas e as crises tonicas. Espasmos infantis estavam presentes em 3 casos e em apenas um caso o eletrencefalograma apresentou aspecto hipsarritmico. A tomografia axial computadorizada, realizada em 7 casos, revelou calcificacoes periventriculares em todos, mesmo naqueles que apresentaram RX simples de cranio normal (4 casos)
