Middle interhemispheric variant of holoprosencephaly associated with diffuse polymicrogyria.
An 11-month-old boy was discovered to have a cleft palate, club foot, hypospadias, and myoclonic seizures. No in utero exposure to teratogens was identified. Brain MR imaging revealed a middle interhemispheric fusion variant of holoprosencephaly, diffuse polymicrogyria, and a hypoplastic brain stem; this was a distinctly unusual association of findings. We hypothesize that an unknown genetic factor causes disturbances of cleavage of the prosencephalon as well as neuronal migration and organization.
Takanashi
Jun-Ichi
J
Neuroradiology Section, Department of Radiology, University of California San Francisco, USA.
Barkovich
A James
AJ
Clegg
Nancy J
NJ
Delgado
Mauricio R
MR
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000473:pathology; D001933:Brain Stem / Q000002:abnormalities* / Q000473:pathology; D002540:Cerebral Cortex / Q000002:abnormalities* / Q000473:pathology; D002972:Cleft Palate / Q000175:diagnosis; D003937:Diagnosis, Differential; D016142:Holoprosencephaly / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009460:Neurologic Examination