Malformations of cortical development in patients with midline facial defects and ocular hypertelorism.
OBJECTIVE
We studied the neuroimaging and neurophysiological aspects of 17 patients with midline facial defects with ocular hypertelorism (MFDH).


METHODS
The investigation protocol included a previous semistructured questionnaire about family history; gestational, neonatal, and postnatal development; and dysmorphologic and neurologic evaluation. Recognized monogenic disorders and individuals with other well-known conditions were excluded. All patients had high resolution magnetic resonance imaging (MRI) with multiplanar reconstruction (MPR) and routine electroencephalograms (EEGs).


RESULTS
We detected abnormalities in five patients whose MRIs had been previously reported as normal. MRI showed central nervous system (CNS) structural abnormalities in all patients, which included commissural alterations in 16/17 (94%), malformations of cortical development in 10/17 (58%), disturbances of neural tube closure in 7/17 (42%), and posterior fossa anomalies in 6/17 (35%). Some patients had more than one type of malformation occurring at different stages of the embryonary process. EEGs showed epileptiform activity in 4/17 (24%) and background abnormalities in 5/17 (29%) of patients.


CONCLUSIONS
This study clearly demonstrated the presence of structural and functional neurologic alterations related to MFDH. Therefore, the CNS anomalies cannot be considered incidental findings but an intrinsic part of this condition, which could be related to environmental effects and/or genetic mutations. These findings would provide a basis for future investigations on MFDH and should also be considered when planning rehabilitation.
Giffoni
Silvyo David Araújo
SD
Department of Medical Genetics, Faculdade de Ciéncias Médicas, Universidade Estadual de Campinas, SP, Brazil.
Cendes
Fernando
F
Valente
Marcelo
M
Gil-da-Silva-Lopes
Vera Lucia
VL
D000015:Abnormalities, Multiple; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004569:Electroencephalography; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000473:pathology*; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D054220:Malformations of Cortical Development / Q000175:diagnosis*; D012307:Risk Factors; D011795:Surveys and Questionnaires