Polymicrogyria in fetal alcohol syndrome.
BACKGROUND
Intrauterine exposure to alcohol may result in a distinct pattern of craniofacial abnormalities and central nervous system dysfunction, designated fetal alcohol syndrome (FAS). The spectrum of malformations of the brain associated with maternal alcohol abuse during pregnancy is much broader than the relatively uniform clinical phenotype of FAS. Among these malformations the most striking abnormalities involve the impairment of neuronal cell migration. However, polymicrogyria (PMG) has so far been reported only once in a human autopsy study of a child with FAS.


METHODS
A 16-year-old girl with confirmed maternal alcohol consumption during pregnancy and full phenotype of FAS presented after two generalized epileptic seizures for neurologic assessment. Cranial magnetic resonance imaging revealed bilateral PMG in the superior frontal gyrus with asymmetric distribution. History, clinical features, and genetic investigations provided no evidence for any of the known genetic or acquired causes of PMG. Therefore, we propose that prenatal alcohol exposure is the cause of PMG in this patient rather than a mere coincidence.


CONCLUSIONS
Our observation represents only the second patient of PMG in FAS and confirms the phenotypic variability of cerebral malformations associated with maternal alcohol abuse during pregnancy. In patients with clinical features of FAS and neurologic deficits or seizures neuroimaging is recommended. Furthermore, FAS should be considered as a differential diagnosis for PMG.
Reinhardt
Konstanze
K
Department of Pediatrics and Pediatric Neurology, University of Göttingen, Göttingen, Germany. konstanze.reinhardt@med.uni-goettingen.de
Mohr
Alexander
A
Gärtner
Jutta
J
Spohr
Hans-Ludwig
HL
Brockmann
Knut
K
D000293:Adolescent; D003937:Diagnosis, Differential; D004827:Epilepsy / Q000139:chemically induced / Q000151:congenital; D005260:Female; D063647:Fetal Alcohol Spectrum Disorders / Q000175:diagnosis* / Q000473:pathology; D007839:Functional Laterality / Q000187:drug effects; D005858:Germany; D006801:Humans; D054220:Malformations of Cortical Development / Q000139:chemically induced / Q000175:diagnosis* / Q000473:pathology; D011247:Pregnancy; D011297:Prenatal Exposure Delayed Effects / Q000139:chemically induced / Q000175:diagnosis* / Q000473:pathology; D012426:Russia