Mutations in PNPLA2 gene encoding for adipose triglyceride lipase (ATGL), involved in triglyceride degradation, lead to an inborn error of neutral lipid metabolism. The disorder that results in abnormal storage of neutral lipid is known as neutral lipid storage disease with myopathy (NLSDM). We report the follow-up of a 30-year-old woman with NLSDM, asymptomatic until age 23. At the age of 18, a high level of CPK and neutral lipid abnormal accumulation in muscle and skin cells suggested NLSDM diagnosis, afterwards confirmed by PNPLA2 analysis. After 5 years, she developed weakness in the upper and lower extremities. She was put on a low-fat diet with medium-chain triglycerides (MCT) oil supplementation but, although her CPK level decreased, myopathy continued to progress. At present, she presents severe skeletal myopathy without cardiac involvement. In this patient, no beneficial effects on progressive skeletal muscle weakness were detected after the MCT diet, probably due to complete loss of PNPLA2 expression © 2022 PAGEPress Publications. All rights reserved.

Missaglia, S., Tavian, D., Angelini, C., Neutral lipid storage disease with myopathy: A 10-year follow-up case report, <<EUROPEAN JOURNAL OF TRANSLATIONAL MYOLOGY>>, 2022; 2022 (32): N/A-N/A. [doi:10.4081/ejtm.2022.10645] [http://hdl.handle.net/10807/213464]

Neutral lipid storage disease with myopathy: A 10-year follow-up case report

Missaglia, Sara
Primo
Writing – Original Draft Preparation
;
Tavian, Daniela
Secondo
Formal Analysis
;
2022

Abstract

Mutations in PNPLA2 gene encoding for adipose triglyceride lipase (ATGL), involved in triglyceride degradation, lead to an inborn error of neutral lipid metabolism. The disorder that results in abnormal storage of neutral lipid is known as neutral lipid storage disease with myopathy (NLSDM). We report the follow-up of a 30-year-old woman with NLSDM, asymptomatic until age 23. At the age of 18, a high level of CPK and neutral lipid abnormal accumulation in muscle and skin cells suggested NLSDM diagnosis, afterwards confirmed by PNPLA2 analysis. After 5 years, she developed weakness in the upper and lower extremities. She was put on a low-fat diet with medium-chain triglycerides (MCT) oil supplementation but, although her CPK level decreased, myopathy continued to progress. At present, she presents severe skeletal myopathy without cardiac involvement. In this patient, no beneficial effects on progressive skeletal muscle weakness were detected after the MCT diet, probably due to complete loss of PNPLA2 expression © 2022 PAGEPress Publications. All rights reserved.
Inglese
Missaglia, S., Tavian, D., Angelini, C., Neutral lipid storage disease with myopathy: A 10-year follow-up case report, <<EUROPEAN JOURNAL OF TRANSLATIONAL MYOLOGY>>, 2022; 2022 (32): N/A-N/A. [doi:10.4081/ejtm.2022.10645] [http://hdl.handle.net/10807/213464]
File in questo prodotto:
File Dimensione Formato  
Missaglia et al, 2022.pdf

accesso aperto

Tipologia file ?: Versione Editoriale (PDF)
Licenza: Creative commons
Dimensione 201.2 kB
Formato Adobe PDF
201.2 kB Adobe PDF Visualizza/Apri

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10807/213464
Citazioni
  • ???jsp.display-item.citation.pmc??? 0
  • Scopus 0
  • ???jsp.display-item.citation.isi??? 0
social impact