Pongratz D, Kötzner H, Hübner G, Deufel T, Wieland O H
Dtsch Med Wochenschr. 1984 Apr 6;109(14):537-41. doi: 10.1055/s-2008-1069229.
As far as could be elucidated, a sporadic manifestation of a slowly progressing muscular weakness and atrophy had commenced in a female patient symmetrically in the pelvic girdle and thigh region at the age of about 22 years. Only at the age of 55 years a precise neurological examination was done. On the basis of clinical and electromyographic data spinal muscular atrophy of the Kugelberg-Welander type was diagnosed. Muscular biopsy demonstrated severe far-progressed neurogenic muscular atrophy. In addition, increased storage of PAS-positive material was noticed. This was particularly true in the sparsely preserved, non-denervated muscular areas changed in the manner of an accompanying myopathy. Complementing electron microscopy and pathobiochemistry in the muscular biopsy showed an adult form of lack of acid maltase (Pompe's disease) aetiologically. This enzyme defect could also be demonstrated in the white cells of this patient.
据明确可知，一名女性患者约22岁时在骨盆带和大腿区域对称地开始出现散发性、进展缓慢的肌肉无力和萎缩症状。直到55岁才进行了精确的神经学检查。根据临床和肌电图数据，诊断为库格尔贝格 - 韦兰德型脊髓性肌萎缩症。肌肉活检显示严重的、进展到晚期的神经源性肌肉萎缩。此外，还注意到PAS阳性物质的储存增加。在伴随肌病改变的保存稀疏、未失神经支配的肌肉区域尤其如此。肌肉活检中的电子显微镜检查和病理生物化学检查补充显示，病因是成人型酸性麦芽糖酶缺乏症（庞贝病）。这种酶缺陷在该患者的白细胞中也得到了证实。
