Department of Neurology, Southmead Hospital, Bristol BS10 5NB, United Kingdom.
Bristol Genetics Laboratory, Pathology Sciences, Southmead Hospital, Bristol BS10 5NB, United Kingdom.
Neuromuscul Disord. 2020 Mar;30(3):241-245. doi: 10.1016/j.nmd.2020.01.004. Epub 2020 Jan 30.
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.
LPIN1 中的致病性变异是儿童严重且常致命的横纹肌溶解症的已知病因。我们报告了一例罕见的成人发作性复发性横纹肌溶解症，其病因是 LPIN1 的复合杂合变异。尽管该患者在二十多岁时首次出现横纹肌溶解症，并接受了广泛的检查，但直到 46 岁才被确诊。DNA 测序显示 LPIN1 外显子 18 中的致病性缺失与外显子 19 中的 c.2410G>A 错义变异有关。虽然 LPIN1 变异是儿童严重复发性横纹肌溶解症的一个重要病因，但这是首例详细描述的病例，也是第二例报告的成人发病的横纹肌溶解症病例。当排除其他更常见的病因后，LPIN1 变异应被视为成人复发性严重横纹肌溶解症的病因之一。
