S. Striano et al., CUTIS-VERTICIS-GYRATA MENTAL DEFICIENCY SYNDROME - A PATIENT WITH DRUG-RESISTANT EPILEPSY AND POLYMICROGYRIA, Epilepsia, 37(3), 1996, pp. 284-286
We report a case of cutis verticis gyratamental deficiency syndrome (C
VG-MD) which was associated with drug-resistant epilepsy and bilateral
occipital polymicrogyria. Genetic analysis showed an increased number
of breaks at the 3p14 and 16q23 sites. We hypothesize that a deleteri
ous factor acting at a critical period of intrauterine development cou
ld result in the cerebral malformation and in the development of CVG.
Neuroradiological investigation is warranted in cases of CVG-MD.