[Joubert's syndrome. Presentation of two adult siblings with favorable evolution].
We present the case of two siblings with Joubert's syndrome. They had breathing problems of unknown origin during the neonatal period. Their evolution has been followed-up from the first years of age until the present. They are now 26 and 22 years old, respectively. Both patients have a "borderline" mental level, are apparently normal, but have had progressive evolution and psychic and motor improvement. They can read, write and use the four operations in mathematics and can work with the computer. Both siblings are working in the familial agriculture, can play football at an elemental level with other young people of their village, and ride a bicycle and motorcycle. Both patients show normal gait and have difficulty running. Their language is normal, although somewhat slow. They perform their personal self-care that includes independent bathing, independent dressing, independent toileting and independent shaving. Their contact with other people is good. They are shy with women. They manage money. They have good social integration. One patient has bilateral strabismus and the other has unilateral ptosis.
Pascual-Castroviejo
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Servicio de Neurologia Pediátrica, Hospital Universitario La Paz, Madrid, Spain. pascas@inves.es
Pascual-Pascual
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D000203:Activities of Daily Living; D002524:Cerebellar Ataxia / Q000235:genetics*; D002531:Cerebellum / Q000002:abnormalities*; D018450:Disease Progression; D004401:Dysarthria / Q000235:genetics; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D015835:Ocular Motility Disorders / Q000235:genetics*; D012120:Respiration Disorders / Q000235:genetics*; D013577:Syndrome