[Phenotypic characterisation of 35 Colombian children with an imaging diagnosis of schizencephaly].
BACKGROUND
Schizencephaly is the most frequent neuronal migration disorder. It is classified according to the type of lip (closed or open). Clinical features vary from the asymptomatic patient to severe neurological compromise.


OBJECTIVE
To describe the clinical characteristics of children who have been diagnosed with schizencephaly and their correlation with radiological findings.


METHODS
Thirty-five Colombian children (17 males and 18 females) with a neuroimaging diagnosis at a mean age of 20.2 months were characterised phenotypically.


RESULTS
A history of perinatal events such as neonatal asphyxia (21.6%) and meconium-stained amniotic fluid (10.8%) were detected, together with maternal histories of failure to attend prenatal check-ups (34.3%), risk of preterm labour (10.8%) and smoking (10.8%). Familial histories of neurological diseases included epilepsy (14.3%) and mental retardation (5.7%). The open-lip type was predominant (60%) and was twice a common as the closed-lip type. Unilateral cases accounted for 62.9% of the total number, with a distribution between the two hemispheres in the same proportion, and 37.1% of cases were bilateral. The frontal lobe that was the most commonly involved. The most frequent manifestations were delayed psychomotor development (80%) and infantile cerebral palsy (80%). Epilepsy was present in 37.1% of cases and the predominant type of seizure was complex focal.


CONCLUSIONS
Tendencies similar to those reported in other series were observed, although with some differences, such as the higher mean age at the time of diagnosis and the lower incidence of resistant epilepsy. Limited access to prenatal check-ups, open-lip presentation, associated malformations and poor response to treatment seem to exacerbate the prognosis.
Mejía
L
L
Departamento de Pediatría y Puericultura, Hospital Universitario San Vicente de Paúl, Universidad deAntioquia, Medellín, Colombia.
Gómez
J C
JC
Carrizosa
J
J
Cornejo
J W
JW
D002648:Child; D002675:Child, Preschool; D003105:Colombia; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D054220:Malformations of Cortical Development / Q000175:diagnosis* / Q000235:genetics*; D010641:Phenotype; D012189:Retrospective Studies; D014057:Tomography, X-Ray Computed