Two PNPLA2 heterozygous mutations result in neutral lipid storage disease with myopathy: a case report

Neutral Lipid Storage Disease with Myopathy (NLSDM) is a rare lipid metabolism disorder caused by PNPLA2 gene mutations. Clinical manifestations are heterogeneous, and diagnosis is often delayed, usually gaining patients' attention due to the increased risk of cardiomyopathy. We herein report a...

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Bibliographic Details
Published in:BMC musculoskeletal disorders 2024-08, Vol.25 (1), p.661-5
Main Authors: Yang, Tong, Zhu, Jie, Kang, Yulai, Tang, Chunhua, Zhang, Lili, Guo, Lu
Format: Article
Language:English
Subjects:
Acyltransferases
Adult
Analysis
Atrophy
Biopsy
Body fat
Cardiomyopathy
Care and treatment
Case reports
Cholesterol
Congestive heart failure
Diabetes
Diagnosis
Diet
Disease
Diseases
Dysarthria
Electromyography
Fatty acids
Gene mutations
Genetic analysis
Genetic aspects
Genetic research
Health aspects
Heart diseases
Heterozygote
Humans
Kinases
Lipase - genetics
Lipid metabolism
Lipid Metabolism, Inborn Errors - diagnosis
Lipid Metabolism, Inborn Errors - genetics
Lipids
Male
Medium-chain fatty acid diet
Muscle strength
Muscle, Skeletal - pathology
Muscular atrophy
Muscular Diseases - diagnosis
Muscular Diseases - genetics
Mutation
Myopathy
Neutral lipid storage disease with myopathy
Oliguria
Patatin-like phospholipase domain-containing 2
Patients
Physiological aspects
Point mutation
Proteins
Storage diseases
Triglycerides
Valsartan
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Description
Summary:Neutral Lipid Storage Disease with Myopathy (NLSDM) is a rare lipid metabolism disorder caused by PNPLA2 gene mutations. Clinical manifestations are heterogeneous, and diagnosis is often delayed, usually gaining patients' attention due to the increased risk of cardiomyopathy. We herein report a 36-year-old Asian male presenting with progressive limb weakness, muscle atrophy of limbs and trunk, dysarthria, and heart failure. Electromyography indicated myogenic changes, and muscle biopsy results revealed characteristics of lipid storage myopathy. Genetic analysis of PNPLA2 revealed two heterozygous mutations: c.757 + 1G > T (chr11-823588, splice-5) on intron 6 and c.919delG (chr11-823854, p.A307Pfs*13) on exon 7. The patient improved limb strength, and dysarthria disappeared after the Medium Chain Fatty Acids diet. In conclusion, we report for the first time that the two heterozygous mutations PNPLA2 c.919delG and c.757 + 1G > T together induced NLSDM, which was confirmed by muscle biopsy.
ISSN:1471-2474
1471-2474
DOI:10.1186/s12891-024-07772-9