Sonninen P, Autti T, Varho T, Hämäläinen M, Raininko R
Department of Diagnostic Radiology, University Hospital of Turku, Finland.
AJNR Am J Neuroradiol. 1999 Mar;20(3):433-43.
Our purpose was to document the nature and progression of brain abnormalities in Salla disease, a lysosomal storage disorder, with MR imaging.
Fifteen patients aged 1 month to 43 years underwent 26 brain MR examinations. In 10 examinations, signal intensity was measured and compared with that of healthy volunteers of comparable ages.
MR images of a 1-month-old asymptomatic child showed no pathology. In all other patients, abnormal signal intensity was found: on T2-weighted images, the cerebral white matter had a higher signal intensity than the gray matter, except in the internal capsules. In six patients, the white matter was homogeneous on all images. In four patients, the periventricular white matter showed a somewhat lower signal intensity; in five patients, a higher signal intensity. In the peripheral cerebral white matter, the measured signal intensity remained at a high level throughout life. No abnormalities were seen in the cerebellar white matter. Atrophic changes, if present, were relatively mild but were found even in the cerebellum and brain stem. The corpus callosum was always thin.
In Salla disease, the cerebral myelination process is defective. In some patients, a centrifugally progressive destructive process is also seen in the cerebral white matter. Better myelination in seen in patients with milder clinical symptoms.
我们的目的是通过磁共振成像记录溶酶体贮积症——萨勒病患者脑部异常的性质和进展情况。
15例年龄在1个月至43岁之间的患者接受了26次脑部磁共振检查。其中10次检查测量了信号强度，并与年龄相仿的健康志愿者进行了比较。
一名1个月大无症状儿童的磁共振图像未显示病变。在所有其他患者中均发现了异常信号强度：在T2加权图像上，除内囊外，脑白质的信号强度高于灰质。6例患者的白质在所有图像上均呈均匀状态。4例患者脑室周围白质信号强度略低；5例患者信号强度较高。脑外周白质的测量信号强度在整个生命过程中均保持在较高水平。小脑白质未见异常。萎缩性改变（若存在）相对较轻，但在小脑和脑干中也有发现。胼胝体始终较薄。
在萨勒病中，脑髓鞘形成过程存在缺陷。在一些患者中，脑白质还可见离心性进行性破坏过程。临床症状较轻的患者髓鞘形成较好。
