Pathogenic variants in LPIN1 are a recognised cause of severe and often fatal rhabdomyolysis in childhood. We present a rare case of adult onset recurrent rhabdomyolysis due to compound heterozygous variants in LPIN1. Despite first presenting with rhabdomyolysis in his twenties and having undergone extensive investigations, the patient did not receive a diagnosis until he was 46 years of age. DNA sequencing revealed a pathogenic deletion involving exon 18 of LPIN1 in conjunction with a c.2410G>A missense variant in exon 19. Whilst LPIN1 variants are a noteworthy cause of severe recurrent rhabdomyolysis in childhood, this is the first detailed description and only the second reported case of adult onset rhabdomyolysis. Variants in LPIN1 should be considered as a cause of recurrent severe rhabdomyolysis in adults when other more common causes have been excluded.

中文翻译：

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一例罕见的成人起病 LPIN1 相关横纹肌溶解症

LPIN1 中的致病变异是儿童期严重且通常致命的横纹肌溶解症的公认原因。我们提出了一个罕见的成人发病复发性横纹肌溶解症，这是由于 LPIN1 中的复合杂合变体。尽管在 20 多岁时首次出现横纹肌溶解症并接受了广泛的检查，但该患者直到 46 岁时才得到诊断。DNA 测序揭示了涉及 LPIN1 外显子 18 的致病性缺失以及外显子 19 中的 c.2410G>A 错义变异。虽然 LPIN1 变异是儿童严重复发性横纹肌溶解症的一个值得注意的原因，但这是第一个详细描述，仅是第二个报告了成人发病的横纹肌溶解症病例。