HyperCKemia: An early sign of childhood-onset neutral lipid storage disease with myopathy

Background: Neutral lipid storage disease with myopathy (NLSDM) is a rare autosomal recessive disorder characterized by aberrant triacylglycerol metabolism due to mutations in the patatin-like phospholipase domain-containing 2 (PNPLA2) gene. Case Presentation: This report presents a case study of a 14-year-old female patient exhibiting symptoms of NLSDM, including recurrent abdominal pain, fatigue, leg pain, and hepatosteatosis. Diagnostic investigations revealed elevated creatinine kinase levels, myopathic findings on electromyography, magnetic resonance imaging findings showing gluteal involvement and Jordans’ bodies on peripheral smear. Clinical exome panel showed homozygous of PNPLA2 c.496G>C p.Asp166His (NM_020376.4) variant. The clinical manifestations, diagnostic challenges, and implications of this novel variant are discussed in the context of current literature. Hypogonadotropic hypogonadism was confirmed in this patient after eliminating possible underlying causes. This was a novel manifestation, and hormone replacement therapy was planned. Conclusion: This case underscores the significance of genetic testing in elucidating the molecular basis of NLSDM and emphasizes the necessity of comprehensive clinical evaluation for accurate diagnosis and management.

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Dilated cardiomyopathy caused by mutation of the PNPLA2 gene: a case report and literature review

Wang,

Wu,

Peng

2024

Front. Genet.

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Deficiency of adipose triglyceride lipase (ATGL) due to mutation in PNPLA2 causes neutral lipid storage disease with myopathy (NLSDM), an autosomal recessive disorder (MIM: #610717). NLSDM patients are mainly affected by progressive myopathy, cardiomyopathy, and hepatomegaly. Cardiac involvement was reported in 40%–50% of NLSDM patients. Patients with cardiac involvement have adult-onset progressive heart failure, mimicking dilated or hypertrophic cardiomyopathy. The clinical characteristics, genotype–phenotype correlation, and prognosis of cardiomyopathy secondary to PNPLA2 mutation are not understood. We reported two male patients carrying a homozygous splicing mutation NM_020376.4 (c.757 + 1G>T) in PNPLA2, presenting with severe dilated cardiomyopathy and mild skeletal muscle involvement. Through the literature review, the ECG and imaging features and the prognosis of 49 previously reported cases of cardiomyopathy caused by the PNPLA2 mutation were summarized. This study suggests that NLSDM should be considered a cause of cardiomyopathy, especially in those with elevated creatine kinase (CK) levels, regardless of whether symptoms such as muscle weakness or atrophy are present.

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HyperCKemia: An early sign of childhood-onset neutral lipid storage disease with myopathy

Cited by 3 publications

References 32 publications

Neutral lipid storage disease with myopathy: clinicopathological and genetic features of nine Iranian patients

Neutral lipid storage disease with myopathy: clinicopathological and genetic features of nine Iranian patients

A Novel PNPLA2 Variant in a Female Patient with Neutral Lipid Storage Disease with Myopathy and Hypogonadotropic Hypogonadism

Dilated cardiomyopathy caused by mutation of the PNPLA2 gene: a case report and literature review

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