van der Knaap M S, Arts W F M, Garbern J Y, Hedlund G, Winkler F, Barbosa C, King M D, Bjørnstad A, Hussain N, Beyer M K, Gomez C, Patterson M C, Grattan-Smith P, Timmons M, van der Valk P
Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands.
Neurology. 2008 Oct 21;71(17):1361-7. doi: 10.1212/01.wnl.0000327680.74910.93.
Histiocytosis, both Langerhans and non-Langerhans cell type, can be associated with cerebellar white matter abnormalities, thought to be paraneoplastic. The associated clinical picture consists of ataxia, spasticity, and cognitive decline. Hormonal dysfunction is frequent. MRI shows cerebellar white matter abnormalities, as well as brainstem and basal ganglia abnormalities. This so-called "neurodegenerative syndrome" may occur years before or during manifest histiocytosis and also years after cure. We discovered similar MRI abnormalities in 13 patients and wondered whether they could have the same syndrome.
We reviewed the clinical and laboratory information of these 13 patients and evaluated their brain MRIs. Seven patients underwent spinal cord MRI.
All patients were isolated cases; 10 were male. They had signs of cerebellar and pyramidal dysfunction, behavioral problems, and cognitive decline. MRI showed abnormalities of the cerebellar white matter, brainstem, basal ganglia, and, to a lesser extent, cerebral white matter. Three patients had spinal cord lesions. Three patients had laboratory evidence of hormonal dysfunction. No evidence was found of an underlying metabolic defect. In two patients biopsy of nodular brain lesions revealed histiocytic infiltrates.
Considering the striking clinical and MRI similarities between our patients and the patients with this neurodegenerative syndrome in the context of proven histiocytosis, it is likely that they share the same paraneoplastic syndrome, although we cannot exclude a genetic disorder with certainty. The fact that we found histiocytic lesions in two patients substantiates our conclusion. Patients with cerebellar white matter abnormalities should be monitored for histiocytosis.
组织细胞增多症，包括朗格汉斯细胞型和非朗格汉斯细胞型，可伴有小脑白质异常，被认为是副肿瘤性的。相关临床表现包括共济失调、痉挛和认知功能减退。激素功能障碍很常见。磁共振成像（MRI）显示小脑白质异常，以及脑干和基底神经节异常。这种所谓的“神经退行性综合征”可能在明显的组织细胞增多症出现前数年或期间发生，也可能在治愈后数年出现。我们在13例患者中发现了类似的MRI异常，想知道他们是否患有相同的综合征。
我们回顾了这13例患者的临床和实验室资料，并评估了他们的脑部MRI。7例患者接受了脊髓MRI检查。
所有患者均为散发病例；10例为男性。他们有小脑和锥体功能障碍、行为问题和认知功能减退的体征。MRI显示小脑白质、脑干、基底神经节异常，在较小程度上还有大脑白质异常。3例患者有脊髓病变。3例患者有激素功能障碍的实验室证据。未发现潜在代谢缺陷的证据。2例患者结节性脑病变活检显示组织细胞浸润。
考虑到我们的患者与已证实的组织细胞增多症背景下的这种神经退行性综合征患者在临床和MRI上有显著相似之处，尽管我们不能确定排除遗传疾病，但他们很可能患有相同的副肿瘤综合征。我们在2例患者中发现组织细胞病变这一事实证实了我们的结论。应监测有小脑白质异常的患者是否患有组织细胞增多症。
