Brouwer O F, Zwarts M J, Links T P, Wintzen A R
Department of Neurology, University Hospital Leiden, The Netherlands.
Clin Neurol Neurosurg. 1992;94(2):149-51. doi: 10.1016/0303-8467(92)90072-b.
A 6-year-old girl presented with episodes of profound muscle weakness since the age of 2 years. On the basis of decreased ictal serum potassium level and lack of metabolic disorder, primary hypokalemic periodic paralysis (HPP) was diagnosed. Both parents and 3 sibs were unaffected clinically. In all of them asymptomatic heterozygosity was very unlikely by the finding of normal muscle fiber conduction velocities, whereas in the patient interictal muscle fiber conduction velocity was lowered. Determination of muscle fiber conduction velocity can be helpful in documenting sporadic occurrence of HPP.
一名6岁女孩自2岁起出现严重肌无力发作。基于发作期血清钾水平降低且无代谢紊乱,诊断为原发性低钾性周期性麻痹(HPP)。父母及3个同胞临床均未受累。通过正常肌纤维传导速度的检查结果,他们不太可能是无症状杂合子,而该患者发作间期肌纤维传导速度降低。测定肌纤维传导速度有助于记录HPP的散发性发生情况。