First Reported Case of 'Epidermal Nevus Syndrome' with a Triad of Central Nervous System Deformities

Abstract

Epidermal nevus syndrome (ENS) is a term used to describe the occurrence of an epidermal nevus in association with other extra-cutaneous developmental anomalies, most commonly involving the nervous and musculoskeletal systems. The nevus is classified on the basis of the main component which may be keratinocytic, sebaceous, follicular, apocrine, or eccrine. Most patients who present with ENS is at the time of birth, though some become apparent later in life. This case describes a young female who presented with seizures and cognitive impairment along with a linear epidermal nevus on the midline of her face. The presence of the nevus prompted brain imaging which showed cortical dysplasia, multiple hamartomas in the temporal lobe, thalamus, and periventricular regions along with cerebellar atrophy and Dandy-Walker variant. To our knowledge, this is the first case in which three different types of brain lesions were found in the same patient.

Keywords: cerebellar atrophy; cortical dysplasia; dandy walker; epidermal nevus syndrome.

Figure 1. A Dark, Pigmented Epidermal Nevus on the Midline of the Face

Figure 2. MRI Revealing Cortical Dysplasia and Multiple Hamartomas in the Medial Temporal Lobe, Thalamus, and Periventricular Region

Figure 3. MRI Revealing Cerebellar Atrophy with Dandy-Walker Variant