Acute recurrent rhabdomyolysis in a Chinese boy associated with a novel compound heterozygous LPIN1 variant: a case report

Abstract

Background LPIN1-related acute recurrent rhabdomyolysis (RM), first reported in 2008, is an autosomal recessive inherited metabolic disease. In recent years, LPIN1 gene variants have been identified as one of the main causes of severe RM in children in Western countries. The disease is extremely rare in China, and we report a case of acute recurrent RM caused by a novel compound heterozygous LPIN1 variant. Case presentation A 15-year-old Chinese boy presented with myalgia after strenuous exercise, accompanied by transient increases in serum creatine kinase and myoglobin and persistent hyperuricaemia and hyperbilirubinaemia. Genetic analysis using high-throughput genomic sequencing and Sanger sequencing revealed that there was a compound heterozygous variant in the LPIN1 gene of the proband: the paternal c.2047A > G(p.I683V) was an unreported missense variant, and the maternal c.2107_2108 insAGG(p.Q703delin sQE) was an unreported in-frame variant. Conclusions In children with RM, LPIN1 variants should always be considered in the differential diagnosis. The clinical features of our case are atypical, which highlights the importance of an accurate diagnosis by genetic testing. If detected early, the condition may be controlled, and the prognosis may be improved.

NLIP and HAD-like Domains of Pah1 and Lipin 1 Phosphatidate Phosphatases Are Essential for Their Catalytic Activities

“…Degradation of Lipin 1 via the ubiquitin–proteasome system mediates lipogenesis, fibrogenesis, and TGF-β signaling in liver cells [ 34 , 35 ]. Several studies have shown that Lipin 1 deficiency is linked to recurrent rhabdomyolysis in human children [ 38 , 39 , 40 , 41 , 42 ], suggesting that Lipin 1 PAP activity is involved in the acute syndromes of rhabdomyolysis.…”

Characteristics and treatments of patients with significantly elevated creatine kinase levels induced by seizures: Case report and literature review

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BACKGROUNDElevated serum creatine kinase (CK) could indicate muscle cell damage due to muscle trauma, strenuous exercise, or the use of certain drugs. [1][2][3] Numerous cytoplasmic components within muscle cells exit through the damaged sarcolemma, including myoglobin and electrolytes, which are involved in acute kidney injury (AKI) and possible cardiac dysrhythmia. 1,4,5 Motor signs associated with seizures, including tonic, clonic, and myoclonic movements, can be considered muscle overuse.

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