Spinal extradural arachnoid cysts in lymphedema-distichiasis syndrome.
OBJECTIVE
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.


CONCLUSIONS
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.
Department of Pediatrics, Pediatric Neurology Unit, University Clinic of Navarra, Pamplona, Spain. rsanchezc@unav.es
Rocío
R
Sánchez-Carpintero
Pablo
P
Dominguez
María Teresa
MT
Núñez
Ana
A
Patiño-García
D016080:Arachnoid Cysts / Q000209:etiology / Q000473:pathology*; D001483:Base Sequence; D017931:DNA Primers / Q000235:genetics; D004824:Epidural Space / Q000473:pathology*; D005141:Eyelid Diseases / Q000150:complications* / Q000235:genetics; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics*; D006801:Humans; D008209:Lymphedema / Q000150:complications* / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics; D010375:Pedigree; D017422:Sequence Analysis, DNA; D013030:Spain; D013115:Spinal Canal / Q000473:pathology*; D013577:Syndrome
D017931:DNA Primers; D051858:Forkhead Transcription Factors; C082078:mesenchyme fork head 1 protein