Malformation of cortical and vascular development in one family with parietal foramina determined by an ALX4 homeobox gene mutation.
Vascular and cortical anomalies have been found in a family with parietal foramina type 2 (PFM2), which is determined by the ALX4 gene. It is believed that ALX4 has a bone-restricted expression. We report a case of PFM with age-related size variation in a 4-year-old boy, as well as in his mother, aunt and grandfather. MR imaging of the child demonstrates prominent malformations of cortical (polymicrogyric cortex with an unusual infolding pattern) and vascular development (persistence median prosencephalic vein), associated with high tentorial incisure periatrial white matter changes.
Valente
Marcelo
M
Pediatric Neuroradiology Division, University of São Paulo School of Medicine, São Paulo, Brazil.
Valente
Kette D
KD
Sugayama
Sofia S M
SS
Kim
Chong Ae
CA
D000015:Abnormalities, Multiple / Q000175:diagnosis; D020785:Central Nervous System Vascular Malformations / Q000150:complications / Q000175:diagnosis; D002540:Cerebral Cortex / Q000002:abnormalities* / Q000473:pathology; D002675:Child, Preschool; D004268:DNA-Binding Proteins / Q000235:genetics*; D005801:Genes, Homeobox; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D009999:Ossification, Heterotopic / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D016548:Prosencephalon / Q000098:blood supply; D012886:Skull; D014057:Tomography, X-Ray Computed; D014157:Transcription Factors / Q000235:genetics*; D014680:Veins / Q000002:abnormalities
C416676:ALX4 protein, human; D004268:DNA-Binding Proteins; D014157:Transcription Factors