Variability in the clinical and pathological findings in the neuronal ceroid lipofuscinoses: review of data and observations.
Variability in the clinical and pathological findings in the neuronal ceroid lipofuscinoses: review of data and observations.
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DOI：
10.1002/ajmg.1320420420
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发表时间：
1992-02
期刊：
影响因子：
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通讯作者：
K. Wisniewski;E. Kida;O. Patxot;Fred Connell
中科院分区：
文献类型：
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作者：
K. Wisniewski;E. Kida;O. Patxot;Fred Connell
我们回顾了319例神经性蜡样脂褐素沉着症(NCL)的临床和病理资料，以确定不同形式之间以及家庭之间和家庭内的变异程度。婴儿型36例(11.3%)，晚期116例(36.3%)，幼年型163例(51.1%)，成人型4例(1.3%)。临床变异性在所研究的所有类型中都被发现，但在幼年期和婴儿晚期的NCL中最为显著。有预期的癫痫、痴呆、失明或运动障碍255例(80%)，较罕见、不太典型的初始神经症状主要见于青少年型患者(20%)：行为异常(18/)、精神病(12/)、神经病变(2/)、不自主运动(15/)、共济失调(9/)。6例青少年病例和2例成人病例均未发现视力损害。319例NCL患者均有皮肤或结膜活检或棕黄色大衣，显示出NCL特有的超微结构异常。16.7%的变异性很明显，在储存溶酶体中观察到指纹、曲线和膜轮廓包涵体的组合，尽管每种形式都有一种类型的包涵体明显占优势。对19例NCL进行了尸检，其中婴儿型3例，婴儿型6例，幼年型9例，成人型1例。19例NCL患者中有16例(84%)表现出病理性变异，表现为神经元溶酶体储存室内含有多种特征性包涵体。在所有19个NCL脑中，也发现了少量老化的脂褐素。
We reviewed the clinical and pathological data on 319 neuronal ceroid lipofuscinosis (NCL) cases to determine the degree of variability within the different forms and among and within families. Thirty-six cases (11.3%) were the infantile form; 116 cases (36.3%), late infantile; 163 cases (51.1%), juvenile; and four cases (1.3%), the adult form (Kufs disease). Clinical variability was found in all forms studied, but was most striking in the juvenile and late infantile forms of NCL. The expected initial findings of seizures, dementia, blindness, or motor impairment were evident in 255 cases (80%), and rarer, less typical initial neurological symptoms were seen mainly in the 64 cases (20%) of the juvenile form: behavior abnormalities (18/64), psychoses (12/64), neuropathy (2/64), involuntary movements (15/64), ataxia (9/64). Six juvenile and two adult cases had no detectable impairment of vision. All 319 NCL cases had skin or conjunctive biopsies or buffy coats that showed the characteristic ultrastructural abnormalities of NCL. Variability was evident in 16.7% in that a combination of fingerprint, curvilinear, and membranous profile inclusion bodies was observed in storage lysosomes, although one type of inclusion was distinctly predominant for each form. Postmortem examination of brains of 19 NCL cases (three with the infantile form, six with the late infantile form, nine with the juvenile form, and one with the adult form) revealed characteristic changes. Sixteen of the 19 NCL brains (84%) showed pathological variability in that they contained more than one kind of characteristic inclusion body in the neuronal lysosomal storage compartment. In all 19 NCL brains, small amounts of aging lipofuscin were also found.(ABSTRACT TRUNCATED AT 250 WORDS)