Spinal extradural arachnoid cysts in lymphedema-distichiasis syndrome

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Rocío Sánchez-CarpinteroAna Patiño-García

Abstract

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. 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. 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. 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.

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Citations

Nov 7, 2015·PloS One·Yoji OguraShiro Ikegawa
Jul 1, 2017·Journal of Neurosurgery. Spine·Arnold H MenezesBrian J Dlouhy
May 26, 2017·American Journal of Medical Genetics. Part a·Gabriela E JonesPradeep C Vasudevan
Jan 24, 2019·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Xiaowei QinXinyu Hong
Jan 1, 2015·Human Genome Variation·Yoji OguraShiro Ikegawa
Mar 28, 2021·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Taijun HanaNobuhito Morota
Aug 29, 2019·ACS Omega·Shichang LiHyun-Joo Nam

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