Pre- and peripartal management of a woman with McArdle disease: a case report

Abstract

McArdle disease or glycogen storage disease (GSD) type V is a rare autosomal recessive inherited disorder in skeletal muscle metabolism leading to exercise intolerance, muscle cramps and in some cases to rhabdomyolysis and acute renal failure due to elevated serum myoglobin levels. Albeit the uterine smooth muscle is not affected, pregnancy and delivery can be physically strenuous and may require specific anesthesiologic care. However, data on pregnancy progress and outcome and on special implications linked to anesthesia in women with McArdle’s disease is scarce, thus posing a challenge to pre- and peripartal management. We report a case of a pregnant woman with Morbus McArdle who was monitored during her pregnancy and delivered a healthy male via cesarean section under spinal anesthesia. Pregnancy, delivery and recovery were uneventful. Our findings, combined with a literature review, lead to the conclusion that uncomplicated pregnancy and delivery can be expected.

Chinese abstract

McArdle综合征或糖原累积病(GSD)V型是一种罕见的常染色体隐性遗传病, 由于血清肌红蛋白水平升高, 导致在骨骼肌代谢中, 出现运动不耐受、肌肉痉挛、横纹肌溶解和急性肾功能衰竭。虽然子宫平滑肌没有受到影响, 但怀孕和分娩是耗费体力的, 并且可能需要特殊的麻醉护理。然而, 对于McArdle综合征的患者, 由于缺少妊娠过程和妊娠结局的相关数据以及与麻醉的特殊性相关数据, 因此对产前和围产期的管理提出了挑战。我们报道了一例案例, 一位孕妇患有McArdle综合征, 她在怀孕期间接受指导, 并在腰麻下通过剖宫产分娩出一个健康的男婴。该患者在怀孕、分娩和康复过程中都很顺利。我们与文献综述相结合, 得出了结论:对于McArdle综合征的患者, 不复杂的妊娠和分娩是可以预期的。

Keywords:

• Glycogen storage disease type V
• Morbus McArdle
• pregnancy
• creatine kinase
• case report

Disclosure statement

The authors declare that they have no competing interests.