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Journal of the Korean Child Neurology Society 2001;9(1):152-158.
Published online May 30, 2001.
Cutis Verticis Gyrata-Mental Deficiency Syndrome : A Patient with Generalized Epidermal Nevus.
Kyu Young Chae, Yong Hyun Nam, Kye Yong Song
1Department of Pediatrics, Seoul Children's Municipal Hospital.
2Department of Rehabilitation, Seoul Children's Municipal Hospital.
3Department of Pathology, School of Medicine, Chung-Ang University, Seoul, Korea.
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.
Key Words: Cutis verticis gyrata, Epidermal nevus
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