Spinal extradural arachnoid cysts associated with distichiasis and lymphedema

Abstract

Spinal extradural arachnoid cysts (SEDAC) are lesions communicating to the subarachnoid space of the spinal canal via a dural defect. SEDAC occupies intraspinal space and sometimes causes neurological disturbances. Although most reported cases are sporadic, several familial cases have been described, suggesting a genetic etiology. Here we report on a family with SEDAC inherited in an autosomal dominant mode. Detailed study showed that the family has the lymphedema-distichiasis syndrome. Among family members examined, a total of ten in two generations manifested all or some of the following features: SEDAC, distichiasis and lymphedema. Seven had spinal cysts, four had both SEDAC and distichiasis, and one had SEDAC distichiasis and lymphedema; three did not have SEDAC. These findings, together with rarity of both distichiasis and lymphedema in the general population, support that all of the ten members were affected with one clinical entity, the lymphedema-distichiasis syndrome. The distribution of features illustrates the variable expressivity of clinical manifestations. Although FOXC2 mutation analysis was not performed in our family, it is likely that SEDAC is a component manifestation of lymphedema-distichiasis syndrome and more consistent in our family than those reported.

Spinal extradural arachnoid cysts in lymphedema-distichiasis syndrome

“…The same Q100X truncating mutation was found in one of the families reported by Erickson et al, 4 but SEDACs were not looked for. Yabuki et al, 3 however, determined presence of SEDACs but not the molecular nature of the mutation involved.…”

“…7,9 Observations of SEDACs have been occasionally reported in families with LDS. 3,4,8,10 -12 However, the prevalence of SEDACs in LDS subjects is unclear because only one study 3 has included systematic determination of their presence by spinal MRI. In the family we describe here, seven of 12 (58%) members have SEDACs; Yabuki et al 3 reported a prevalence rate of 70%.…”

“…3,4,8,10 -12 However, the prevalence of SEDACs in LDS subjects is unclear because only one study 3 has included systematic determination of their presence by spinal MRI. In the family we describe here, seven of 12 (58%) members have SEDACs; Yabuki et al 3 reported a prevalence rate of 70%. These two rates are suggestive of an association between SEDACs and LDS.…”

“…The frequency of SEDACs in families with lymphedema-distichiasis syndrome (LDS) has not been established, although a family was described in which 70% of members had SEDACs. 3 We report on a family of 48 members over three generations in which 12 had LDS. We present data regarding prevalence of the FOXC2 mutation and the various clinical features in 30 individuals.…”

Should we resect all multiple intraspinal extradural arachnoid cysts?report of a case

“…Radiography can show compression of the related pedicle bones, enlargement of the spinal canal, and increase in the anteroposterior and pedicle distance. Enhanced CT and myelography also have diagnostic value in SEACs, but MRI is the best choice (16,17,21).…”