EPIDERMAL NEVUS SYNDROME AND HEMIMEGALENCEPHALY: A REPORT OF THREE CASES

Objectives: The neurocutaneous syndromes comprise a group of heterogeneous disorders characterized by dysplasia and tendency to form tumors. The central nervous system and skin are mainly involved, but other organ systems can be involved. Since the brain and the skin originate from the same germ layer, these disorders are called congenital ectodermoses. Over the last four decades many neurocutaneous disorders have been described. One of the rare disorders is epidermal nevus syndromewhich is a sporadic congenital hamartoses with neurological complications frequently reported, including mental retardation, seizure disorder and hemiparesis. We describe three patients with epidermal nevus syndrome and neuronal migration disorder in the form of hemimegalencephaly with clinical presentation, neurophysiological and neuroradiological findings.

Methods: Charts of the patients were reviewed; information was obtained including: the clinical presentation, the investigations, the treatment options including the medical and surgical intervention, and the ultimate outcome in terms of neurological and seizure control.

Results: Our three patients presented with intractable seizure early in infancy, on examination showed clear skin lesions typical for epidermal nevus syndrome, all three patients were evaluated extensively including neuroimaging: MRI brain which showed hemimegalencphaly and other cortical developmental malformations, two of our patients had PET scan as presurgical evaluation for functional hemispherectomy; all of them underwent evaluation by video EEG monitoring in our epilepsy monitoring unit. Two of our patients required functional hemispherectomy after failure of medical treatment and on follow up one patient (case I) had no more seizure for more than 18 months, the other child (case II) seizure were controlled more than 95%; the third patient (case III) was managed with medication. In this article photographs of our patients were provided after consents were obtained, in addition to radiological (anatomical and functional imaging) and EEG findings.

Conclusion: The aim of this article is to highlight the importance of recognizing ENS as a possible cause of intractable seizures, the association with developmental cortical malformations (hemimegalencephaly) and the important role of surgical treatment for seizure control.