Cutis Verticis Gyrata-Mental Deficiency Syndrome : A Patient with Generalized Epidermal Nevus / 대한소아신경학회지

ABSTRACT

We report a case of cutis verticis gyrata-mental deficiency syndrome associated with generalized epidermal nevus. The clinical features of the patient included severe mental retardation, drug resistant epilepsy, short stature, scaphocephaly and dysmorphic face with scanty scalp hair, hypertelorism, long palpebral fissure, low nasal bridge, hyperplasia of ala nasi, low-set ears with convoluted fold, and partial obstruction of the nasolacrimal ducts. Multiple convoluted folds and furrows on the scalp were extended to eyebrows and nose. Both lateral ventricle with periventricular leukomalacia were dilated markedly and the corpus callosum was hypoplastic on brain MRI. The nature of the yellowish brown colored elevated skin nevi on the whole body was consistent with systemic epidermal nevus by pathological study.