[Congenital cataract associated with mental retardation and epilepsy].
The paper presents the observations on a female patient with congenital cataract, oligophrenia, unsteady gait, low muscular strength, diminished osteotendinous reflexes. The patient has an under normally developed intellect, dysarthria, epileptic crises. Her speaking practice is bad, she also has tropical disturbances, genu valgum, shortening of the fingers of the right hand, kyphoscoliosis. The clinical signs integrate the observations with the Marinescu-Sjogren syndrome. The case is interesting because of the association of the epilepsy with this syndrome.
Herăscu
I
I
Policlinica de adulţi Oţelul Roşu.
D002386:Cataract / Q000151:congenital* / Q000175:diagnosis; D003937:Diagnosis, Differential; D004827:Epilepsy / Q000175:diagnosis*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis*; D008875:Middle Aged; D013132:Spinocerebellar Degenerations / Q000175:diagnosis
Cataracta congenitală asociată cu oligofrenie şi epilepsie.