Publicações científicas

Spinal extradural arachnoid cysts in lymphedema-distichiasis syndrome

Sánchez-Carpintero R [ES], Dominguez P, Núñez MT, Patiño-García A. [ES]
From the 1Department of Pediatrics, Pediatric Neurology Unit; 2Department of Radiology, Neuroradiology Unit; and 3Department of Pediatrics, Laboratory of Pediatrics, University Clinic of Navarra, Pamplona, Spain.

Revisão:Genetics in Medicine

Data: 8/Jun/2010

Pediatria [ES]

PURPOSE
Lymphedema-distichiasis syndrome is characterized by the presence of lower limb lymphedema and supernumerary eyelashes arising from the Meibomian glands. Spinal extradural arachnoid cysts have been observed in some families but their true frequency is unknown. The aim of this study is to determine the frequency of spinal extradural arachnoid cysts in lymphedema distichiasis syndrome.

METHODS
We collected clinical information from all 45 living members of a complete family of 48 members and performed molecular analysis of the FOXC2 gene in 30 individuals. We obtained spinal magnetic resonance imaging from all family members with a FOXC2 gene mutation.

RESULTS
Twelve family members carried a mutation in the FOXC2 gene and had clinical features of lymphedema-distichiasis syndrome. Of these, 58% (seven individuals) had extradural arachnoid cysts.

DISCUSSION
We suggest that a follow-up protocol for lymphedema-distichiasis syndrome families should include spinal magnetic resonance imaging for all affected members so that the timing of surgery for removal of these cysts can be optimized.

CITAÇÃO DO ARTIGO  Genet Med. 2010 Aug;12(8):532-5

tal vezLE INTERESE

QUE TECNOLOGIA UTILIZAMOS? 

A Clínica é o hospital privado com maiores recursos tecnológicos de Espanha, tudo num único centro.

Imagen de un PET, tecnología de vanguardia en la Clínica Universidad de Navarra

OS NOSSOS
PROFISSIONAIS

Os profissionais da Clínica realizam um trabalho contínuo de investigação e formação, sempre em benefício do paciente.

Imagen profesionales de la Clínica Universidad de Navarra

RAZÕES PARA VIR
À CLÍNICA

Conheça porque é que somos diferentes em relação a outros centros sanitários. Qualidade, rapidez, comodidade e resultados.

Imagen del edificio de la Clínica Universidad de Navarra