Setleis Syndrome: Genetic and Clinical Findings in a New Case With Epilepsy

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• 作者：Lucio Giordano ; MD^a ; Robert J. Desnick ; MD PhD^b ; Anna Molinaro ; MD^a ; ^{anna.molinaro@gmail.com" class="auth_mail} ; Vera Uliana ; MD^c ; Francesca Forzano ; MD^c ; Lisa Edelmann ; MD PhD^b ; Irene Nazarenko ; MS^b ; Lorenzo Pinelli ; MD^d ; Patrizia Accorsi ; MD^a ; Francesca Faravelli ; MD^c
• 关键词：focal facial dermal dysplasias ; Setleis syndrome ; epilepsy ; developmental delay ; TWIST2 gene
• 刊名：Pediatric Neurology
• 出版年：April, 2014
• 年：2014
• 卷：50
• 期：4
• 页码：389-391
• 全文大小：1197 K

文摘

Background

Focal facial dermal dysplasias are a group of inherited ectodermal disorders characterized by congenital bitemporal or periauricular scar-like depressions as well as other facial and nonfacial developmental defects. Four subtypes have been delineated, and mutations in the TWIST2 gene have been identified in type III focal facial dermal dysplasia (Setleis syndrome).

Patients

We describe a sporadic patient with the hallmark bitemporal scar-like lesions, severe intellectual disability, and focal epilepsy.

Results

The boy has typical features of Setleis syndrome, and he developed focal epilepsy, a previously unreported feature of this syndrome. No mutations in the TWIST2 gene were found, and there were no pathologic copy number abnormalities.

Conclusions

Epilepsy could represent a new manifestation, and the patient described broadens the spectrum of clinical features associated with Setleis syndrome, including central nervous system involvement.