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Cutis Verticis Gyrata—Mental Deficiency Syndrome: A Patient with Drug‐Resistant Epilepsy and Polymicrogyria
Author(s) -
Striano Salvatore,
Ruosi Patrizia,
Guzzetta Vito,
Perone Lucia,
Manto Andrea,
Cirillo Sossio
Publication year - 1996
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/j.1528-1157.1996.tb00027.x
Subject(s) - polymicrogyria , epilepsy , medicine , pediatrics , dermatology , psychiatry
Summary: We report a case of cutis verticis gyrate‐mental deficiency syndrome (CVG‐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 deleterious factor acting at a critical period of intrauterine development could result in the cerebral malformation and in the development of CVG. Neuroradiological investigation is warranted in cases of CVG‐MD.