[A case of Rud's syndrome].
A twenty-two-year-old patient is described who developed in the presence of congenital ichthyosis, osseous system developmental abnormalities, and psychopathologic personality disorders fits with loss of consciousness and seizures whose epileptic nature was proved by EEG studies. Clinical symptom complex found in this patient conformed to description of a rare hereditary disease, Rud's syndrome. The role of hereditary abnormalities in epilepsy development is discussed, as are problems of differential diagnosis of Rud's syndrome and other rare hereditary diseases with combinations of ichthyosis, epilepsy, and intellect disturbances.
Shutov
A A
AA
Chudinov
A A
AA
Perminova
M P
MP
D000328:Adult; D003937:Diagnosis, Differential; D004827:Epilepsy / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007006:Hypogonadism / Q000175:diagnosis* / Q000235:genetics; D007057:Ichthyosis / Q000175:diagnosis* / Q000235:genetics; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D013577:Syndrome
Sluchaĭ sindroma Ruda.