[Ichthyosis, epileptic crises and infantilism: 4 cases of Rud syndrome].
Four boys with common ichthyosis, generalized epileptic fits and probable hypogonadotropic hypogonadism are expounded upon. They are diagnosed as having the Rud syndrome. Under the neurological aspect, the absence of risk to develop posterior epilepsy as a feature of the syndrome, with the exception of the one suggested by the symptomatology of the fits and/or alterations of the EEG is noteworthy in our patients. The intellectual quotient (Weschller children's test) in found to be within normal limits. We have observed the coincidence of the Lennox syndrome of the most serious cutaneous type with the worst evolution. The gonadotropins did not respond to the stimulus with their hypothalamic hormone and we recommend an endocrinologic study of these boys at the puberal age, for the purpose of establishing, if necessary, treatment for their gonadal deficit.
D002675:Child, Preschool; D004827:Epilepsy / Q000150:complications* / Q000235:genetics / Q000473:pathology; D006801:Humans; D007006:Hypogonadism / Q000150:complications* / Q000235:genetics / Q000473:pathology; D007057:Ichthyosis / Q000150:complications* / Q000235:genetics / Q000473:pathology; D007223:Infant; D013577:Syndrome
Ictiosis, crisis epilécticas e infantilismo: cuatro casos de síndrome de Rud.