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Case Reports
. 2004 Nov-Dec;25(10):1836-9.

Malformation of cortical and vascular development in one family with parietal foramina determined by an ALX4 homeobox gene mutation

Marcelo Valente  1 , Kette D Valente, Sofia S M Sugayama, Chong Ae Kim
Affiliations
Case Reports

Malformation of cortical and vascular development in one family with parietal foramina determined by an ALX4 homeobox gene mutation

Marcelo Valente et al. AJNR Am J Neuroradiol. 2004 Nov-Dec.

Abstract

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.

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Figures

F<sc>ig</sc> 1.
Fig 1.
Pedigree of the affected family.
F<sc>ig</sc> 2.
Fig 2.
Neuroimaging studies of the affected family (III-2, II-4, and I-2). CT scan of the head with 3D cranial vault reformations (CT3D); axial plane MR imaging without contrast enhancement (T1-weighted MR imaging) and MR venography (MRv).
F<sc>ig</sc> 3.
Fig 3.
CT3D - Patient III-2. Regressive size of the bone defects in time. CT scans at the ages of 3 months and at 2 years of age.
See this image and copyright information in PMC

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References

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