成人発症の結節性硬化症の臨床と脳画像の特徴—幼少時発症例との比較

A Clinical and Radiological Comparison of Adult- and Childhood-onset Tuberous Sclerosis Complex

結節性硬化症（TSC）の診断基準でdefinitive TSCの11例において，20歳以後の発症6症例（A群）を，臨床的，放射線学的に解析し，20歳前発症の5症例（B群）と比較検討を行った。A群はB群に比較しててんかん発作および初発症状の全般性強直性間代性発作，精神遅滞，顔面血管線維腫は少なく軽症であり，脳画像での大脳皮質下結節，脳室上衣下結節の数も有意に少なかった。放射状大脳白質神経細胞移動線の数には差はなかった。大脳皮質下結節は両群ともに前頭葉に多かった。A群でのてんかん発作および精神遅滞の有無と大脳皮質下結節，脳室上衣下結節の数とは相関しなかった。脳外病変として肺，腎，骨病変が認められたが，A群での特有の病変はなかった。

Abstract

In this study, we assessed 11 patients who were definitively diagnosed with tuberous sclerosis complex (TSC) based on the accepted clinical diagnostic criteria (Roach, 1998). We compared the clinical and radiological findings of six adult-onset TSC cases (group A) and five child-onset TSC cases (group B). The prevalence rates of generalized tonic-clonic convulsions at onset, mental retardation, facial angiofibroma, and epilepsy were lower in group A than in B group. The number of cortical tubers and subependymal nodules on brain magnetic resonance (MR) and computed tomography (CT) images were also lower in group A. The number of cerebral white matter radial migration lines was similar in both groups. Cortical tubers were most frequently observed in the frontal lobe in both groups. The number of cortical tubers and subependymal nodules did not correlate with the presence of epilepsy or mental retardation. Extra-brain lesions in lung, kidney, and bone were recognized in both groups, and no specific lesions were noted in group A.

(Received May 11, 2015; Accepted June 22, 2015; Published October 1, 2015)