J Pediatr Neurol
DOI: 10.1055/s-0039-1692985
Case Report
Georg Thieme Verlag KG Stuttgart · New York

FGFR1 Mosaic Pathogenic Variant in Encephalocraniocutaneous Lipomatosis with Leptomeningeal Angiomatosis

1  Pediatric Neurology Department, Vall d'Hebron University Hospital, Barcelona, Spain
,
Paula Fernández-Álvarez
2  Clinical and Molecular Genetics Department, Vall d'Hebron University Hospital and Medicine Genetics Group VHIR, Barcelona, Spain
,
Ángel Sánchez-Montañez García-Carpintero
3  Neuroradiology Department, Vall d'Hebron University Hospital, Barcelona, Spain
,
Vicenç García-Patos&
4  Pediatric Dermatology Department, Vall d'Hebron University Hospital, Barcelona, Spain
,
Eduardo F. Tizzano&
2  Clinical and Molecular Genetics Department, Vall d'Hebron University Hospital and Medicine Genetics Group VHIR, Barcelona, Spain
,
Susana Boronat*&
1  Pediatric Neurology Department, Vall d'Hebron University Hospital, Barcelona, Spain
2  Clinical and Molecular Genetics Department, Vall d'Hebron University Hospital and Medicine Genetics Group VHIR, Barcelona, Spain
› Author Affiliations
Further Information

Publication History

04 April 2019

27 May 2019

Publication Date:
01 July 2019 (online)

Abstract

Encephalocraniocutaneous lipomatosis (ECCL) is a congenital neurocutaneous disorder. It is characterized by ocular anomalies (epibulbar choristomas), skin lesions (as nevus psiloliparus and subcutaneous lipomas), and central nervous system abnormalities (mostly arachnoid cysts, brain anomalies, vascular defects, and intracranial and spinal lipomas). Mutations in KRAS and fibroblast growth factor receptor gene-1 (FGFR1) are related to ECCL, explaining additional manifestations such as jaw tumors or gliomas. We report a pediatric patient with clinical, radiological, and histological findings consistent with ECCL and a mosaic pathogenic variant in FGFR1 found in the DNA from a non-cultured biopsy of the nevus psiloliparus and absent in blood and DNA from buccal mucosa.

* Authors' present address:


Marta Gómez-García de la Banda: Pediatric Neurology Department, Neuromuscular Disorders Unit. Raymond-Poincaré University Hospital, APHP CHU Paris IdF Ouest, Garches (France).


Susana Boronat: Pediatric Neurology Department, Sagrat Cor University Hospital, Barcelona (Spain).


& Senior authors