Infantile olivopontocerebellar atrophy with spinal muscular atrophy (infantile OPCA + SMA).
Infantile olivopontocerebellar atrophy with spinal muscular atrophy (infantile OPCA + SMA).
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DOI：
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发表时间：
1990
影响因子：
1.1
通讯作者：
S. M. Chou;E. Gilbert;R. Chun;R. Laxová;G. Tuffli;R. Sufit;N. Krassikot
中科院分区：
文献类型：
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作者：
S. M. Chou;E. Gilbert;R. Chun;R. Laxová;G. Tuffli;R. Sufit;N. Krassikot
我们报告三个兄弟姐妹（两个男孩和女孩）与家族性（常染色体隐性遗传）婴儿橄榄桥脑小脑萎缩（OPCA）与下运动神经元参与。其中两名儿童的脑部尸检结果显示，多系统退行性变的特征是脑干系统发育新部分（脑桥基底核和下橄榄核）明显发育不全，与新小脑、小脑和大脑脚发育不全相关。这三个婴儿都在六个月大之前死亡。临床特征的特点是严重的肌张力减退，反射消失，无法茁壮成长，呼吸功能不全的所有情况下，心肌病和髋关节脱位在出生时的三个兄弟姐妹中的两个。在第二个婴儿的广泛的血清，尿液和白细胞酶检测未能揭示一个特定的代谢异常。在最小的婴儿中，在死亡之前通过磁共振成像（MRI）确定了OPCA的诊断。由于OPCA代表了一组异质性疾病，在进化的早期阶段，神经病理学，临床，遗传学和MRI结果的相关性在OPCA及其变体的疾病分类学的理解中变得至关重要。
We report three siblings (two boys and girl) with familial (autosomal recessive) infantile olivopontocerebellar atrophy (OPCA) associated with lower motoneuron involvement. Brain autopsy findings in two of the children revealed a multisystem degeneration characterized by marked hypoplasia of phylogenetically new parts of the brain stem (basis pontis and inferior olivary nuclei) associated with hypoplasia of the neocerebellum, both cerebellar and cerebral peduncle. All three infants died before six months of age. The clinical features are characterized by severe hypotonia, areflexia, failure to thrive, respiratory insufficiency in all cases, cardiomyopathy and dislocated hips at birth in two of the three siblings. Extensive serum, urinary and leukocyte enzyme assays in the second infant failed to disclose a specific metabolic abnormality. The diagnosis of OPCA was established prior to death by Magnetic Resonance Imaging (MRI) in the youngest infant. Since OPCA represents a heterogeneous group of diseases, correlation of neuropathologic, clinical, genetic and MRI findings at early stages of evolution becomes crucial in the understanding of the nosology of OPCA and its variants.