Setleis syndrome: genetic and clinical findings in a new case with epilepsy.

Abstract

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.

• Authors: Lucio Giordano, Robert J Desnick, Anna Molinaro, Vera Uliana, Francesca Forzano, Lisa Edelmann, Irene Nazarenko, Lorenzo Pinelli, Patrizia Accorsi, Francesca Faravelli
• Journal: Pediatric neurology (Pediatr Neurol) Vol. 50 Issue 4 Pg. 389-91 (Apr 2014) ISSN: 1873-5150 [Electronic] United States
• PMID: 24486222 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2014 Elsevier Inc. All rights reserved.

Chemical References

• Repressor Proteins
• TWIST2 protein, human
• Twist-Related Protein 1

Topics

• Arm (pathology)
• Brain (physiopathology)
• Child
• Ectodermal Dysplasia
• Electroencephalography
• Epilepsy (genetics, pathology, physiopathology)
• Face (pathology)
• Focal Dermal Hypoplasia (genetics, pathology, physiopathology)
• Focal Facial Dermal Dysplasias
• Humans
• Male
• Repressor Proteins (genetics)
• Skin Diseases (genetics, pathology, physiopathology)
• Twist-Related Protein 1 (genetics)