Niemann-Pick C disease in Spain:: Clinical spectrum and development of a disability scale
Niemann-Pick C disease in Spain:: Clinical spectrum and development of a disability scale
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DOI：
10.1016/j.jns.2006.05.054
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发表时间：
2006-11-01
影响因子：
4.4
通讯作者：
Coll, M. J.
中科院分区：
文献类型：
--
作者：
Iturriaga, C.;Pineda, M.;Coll, M. J.
目的：描述Nietnann-Pick C病的临床演变，以确定可能与疾病诊断和病情严重程度相关的因素。方法：建立临床数据库和严重程度量表，对西班牙近28年来确诊的45例Nietnann-Pick C病患者进行评估。结果：30例患者获得了完整的临床资料，均证实存在NPCI基因突变。临床表现：围产儿3例，重症7例，晚期6例，青少年11例，成人3例。生化表型典型的有26例。28名患者(93%)存在脾肿大，其年龄范围很广。神经系统疾病的首发症状是笨拙，2-4岁后出现小脑体征。2~4年出现眼肌麻痹，1~2年完全消失。完全性眼肌麻痹时出现构音障碍。重度婴儿型患者在神经系统体征出现之前、婴儿期晚期出现小脑体征和晚发型完全性眼肌麻痹时被诊断。结论：在本组患者中，96%的患者存在脾肿大，甚至在出生后的第一年也是如此。在Niemann Pick C型中，运动发育正常的儿童的笨拙比共济失调的发病早了2-4年。残疾程度量表可能有助于监测进化，建立可能的表型相关性，并评估未来的治疗。(C)2006爱思唯尔B.V.保留所有权利。
Objectives: To describe the clinical evolution of Nietnann-Pick C disease to identify possible factors involved in the diagnosis and severity of the disease.Methods: A clinical database and a severity scale was created to evaluate 45 patients diagnosed with Niemann-Pick type C in the last 28 years in Spain.Results: Complete clinical data were obtained from 30 patients, all were confirmed to have mutations in the NPCI gene. Regarding clinical form, 3 were perinatal, 7 severe infantile, 6 late infantile, 11 juvenile and 3 adult. Biochemical phenotype was classic in 26. Splenomegaly was present in 28 patients (93%) with a wide range of age at detection. The first symptom of neurological disease was clumsiness, followed in 2-4 years by cerebellar signs. Ophthalmoplegia appeared 2-4 years later and became complete 1-2 years after onset. Dysarthria appeared by the time of complete ophthalmoplegia. Diagnosis was made before the onset of neurological signs in patients with the severe infantile form, at the time of onset of cerebellar signs in the late infantile form and complete ophthalmoplegia in late onset forms.Conclusions: In our series, splenomegaly is present in 96% of patients, even in late onset forms during the first years of life. Clumsiness in children with otherwise normal motor development precedes the onset of ataxia by 2-4 years in Niemann Pick type C. A disability scale could be useful for monitoring evolution, establishing possible phenotypic correlations and evaluating future therapies. (c) 2006 Elsevier B.V. All rights reserved.