Unusually prolonged survival and childhood-onset epilepsy in a case of alobar holoprosencephaly.
Alobar holoprosencephaly is one of the most severe congenital malformations of the central nervous system. Most affected infants are stillborn or have a very short life-span. The survivors can present with neonatal seizures and/or infantile spasms. We report on an unusually long-lived patient with alobar holoprosencephaly and minor facial dysmorphism, who developed generalized epilepsy during childhood.
Veneselli
E
E
Child Neuropsychiatry Department, G. Gaslini Institute, University of Genoa, Genova, Italy. veneselli@usa.net
Biancheri
R
R
Di Rocco
M
M
Fondelli
M P
MP
Perrone
M V
MV
Donati
P T
PT
D002648:Child; D018450:Disease Progression; D004829:Epilepsy, Generalized / Q000209:etiology*; D019066:Facies; D005260:Female; D016142:Holoprosencephaly / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D017741:Survivors