Tang T T, Segura A D, Chen Y T, Ricci L M, Franciosi R A, Splaingard M L, Lubinsky M S
Department of Pathology, Children's Hospital of Wisconsin, Milwaukee.
Acta Neuropathol. 1994;87(5):531-6. doi: 10.1007/BF00294181.
A neonate with deficiency of branching enzyme (glycogenosis type IV) presented symptoms of severe hypotonia pre- and postnatally, and dilated cardiomyopathy in early infancy. The classical clinical manifestation of liver cirrhosis was not present, although amylopectin-like inclusions were found in the hepatocytes. In contrast to a previous report, the neurons in the brain stem and spinal anterior horns contained PAS-positive, diastase-resistant deposits. The combined involvement of the muscles and motor neurones could account for the severity of hypotonia. The muscle biopsy, electromyogram and biochemical and enzyme assays were helpful in establishing the diagnosis.
一名患有分支酶缺乏症（IV型糖原贮积病）的新生儿在产前和产后均出现严重肌张力减退症状，婴儿早期出现扩张型心肌病。尽管在肝细胞中发现了支链淀粉样包涵体，但并未出现肝硬化的典型临床表现。与之前的一份报告不同，脑干和脊髓前角的神经元含有PAS阳性、抗淀粉酶的沉积物。肌肉和运动神经元的联合受累可以解释肌张力减退的严重程度。肌肉活检、肌电图以及生化和酶分析有助于确诊。
