Lipin-1 Deficiency-Associated Recurrent Rhabdomyolysis and Exercise-Induced Myalgia Persisting into Adulthood: A Case Report and Review of Literature
Phosphatidate phosphatase-1 (lipin-1) is encoded by LPIN1 gene. Lipin-1 deficiency has been reported as the second most common cause of early-onset rhabdomyolysis after primary fatty acid oxidation disorders. We report a case of a 32-year-old Sri Lankan female with a history of more than 10 episodes...
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| Language: | English |
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Wiley
2020-01-01
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| Series: | Case Reports in Medicine |
| Online Access: | http://dx.doi.org/10.1155/2020/7904190 |
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| author | Neluwa Liyanage Ruwan Indika Dinesha Maduri Vidanapathirana Eresha Jasinge Roshitha Waduge Narangoda Liyanage Ajantha Shyamali Poruthotage Pradeep Rasika Perera |
| author_facet | Neluwa Liyanage Ruwan Indika Dinesha Maduri Vidanapathirana Eresha Jasinge Roshitha Waduge Narangoda Liyanage Ajantha Shyamali Poruthotage Pradeep Rasika Perera |
| author_sort | Neluwa Liyanage Ruwan Indika |
| collection | DOAJ |
| description | Phosphatidate phosphatase-1 (lipin-1) is encoded by LPIN1 gene. Lipin-1 deficiency has been reported as the second most common cause of early-onset rhabdomyolysis after primary fatty acid oxidation disorders. We report a case of a 32-year-old Sri Lankan female with a history of more than 10 episodes of rhabdomyolysis and exercise intolerance since childhood. These episodes were triggered by infections and exercise. A temporal relationship between the acute episodes and use of drugs such as theophylline, mefenamic acid, co-trimoxazole, and combined oral contraceptive pills was also noted. There was marked elevation of serum creatine kinase and transaminases during acute episodes. Family history revealed parental consanguinity and an affected sibling who died of an acute episode associated with muscle weakness, dark coloured urine, and cyanosis, at the age of 2 years. The histochemical findings of the patient under discussion were consistent with a metabolic myopathy affecting membrane integrity. A homozygous, likely pathogenic variant c.1684G>T encoding p.(Glu562∗) was identified by clinical exome sequencing. Even though the studies to date give no convincing evidence of a possible causal or contributory relationship between the drugs under discussion and lipin-1 related rhabdomyolysis, this case highlights the importance of pharmacovigilance and reporting adverse drug reactions in patients with lipin-1 deficiency. |
| format | Article |
| id | doaj-art-6de1af6e6e7d4de2beb51d60b63a3d5b |
| institution | Kabale University |
| issn | 1687-9627 1687-9635 |
| language | English |
| publishDate | 2020-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Medicine |
| spelling | doaj-art-6de1af6e6e7d4de2beb51d60b63a3d5b2025-08-20T03:33:50ZengWileyCase Reports in Medicine1687-96271687-96352020-01-01202010.1155/2020/79041907904190Lipin-1 Deficiency-Associated Recurrent Rhabdomyolysis and Exercise-Induced Myalgia Persisting into Adulthood: A Case Report and Review of LiteratureNeluwa Liyanage Ruwan Indika0Dinesha Maduri Vidanapathirana1Eresha Jasinge2Roshitha Waduge3Narangoda Liyanage Ajantha Shyamali4Poruthotage Pradeep Rasika Perera5Department of Biochemistry, Faculty of Medical Sciences, University of Sri Jayewardenepura, Nugegoda, Sri LankaDepartment of Pathology, Faculty of Medical Sciences, University of Sri Jayewardenepura, Nugegoda, Sri LankaDepartment of Chemical Pathology, Lady Ridgeway Hospital for Children, Colombo 8, Sri LankaDepartment of Pathology, Faculty of Medicine, University of Peradeniya, Peradeniya, Sri LankaDepartment of Medicine, Faculty of Medical Sciences, University of Sri Jayewardenepura, Nugegoda, Sri LankaDepartment of Biochemistry, Faculty of Medical Sciences, University of Sri Jayewardenepura, Nugegoda, Sri LankaPhosphatidate phosphatase-1 (lipin-1) is encoded by LPIN1 gene. Lipin-1 deficiency has been reported as the second most common cause of early-onset rhabdomyolysis after primary fatty acid oxidation disorders. We report a case of a 32-year-old Sri Lankan female with a history of more than 10 episodes of rhabdomyolysis and exercise intolerance since childhood. These episodes were triggered by infections and exercise. A temporal relationship between the acute episodes and use of drugs such as theophylline, mefenamic acid, co-trimoxazole, and combined oral contraceptive pills was also noted. There was marked elevation of serum creatine kinase and transaminases during acute episodes. Family history revealed parental consanguinity and an affected sibling who died of an acute episode associated with muscle weakness, dark coloured urine, and cyanosis, at the age of 2 years. The histochemical findings of the patient under discussion were consistent with a metabolic myopathy affecting membrane integrity. A homozygous, likely pathogenic variant c.1684G>T encoding p.(Glu562∗) was identified by clinical exome sequencing. Even though the studies to date give no convincing evidence of a possible causal or contributory relationship between the drugs under discussion and lipin-1 related rhabdomyolysis, this case highlights the importance of pharmacovigilance and reporting adverse drug reactions in patients with lipin-1 deficiency.http://dx.doi.org/10.1155/2020/7904190 |
| spellingShingle | Neluwa Liyanage Ruwan Indika Dinesha Maduri Vidanapathirana Eresha Jasinge Roshitha Waduge Narangoda Liyanage Ajantha Shyamali Poruthotage Pradeep Rasika Perera Lipin-1 Deficiency-Associated Recurrent Rhabdomyolysis and Exercise-Induced Myalgia Persisting into Adulthood: A Case Report and Review of Literature Case Reports in Medicine |
| title | Lipin-1 Deficiency-Associated Recurrent Rhabdomyolysis and Exercise-Induced Myalgia Persisting into Adulthood: A Case Report and Review of Literature |
| title_full | Lipin-1 Deficiency-Associated Recurrent Rhabdomyolysis and Exercise-Induced Myalgia Persisting into Adulthood: A Case Report and Review of Literature |
| title_fullStr | Lipin-1 Deficiency-Associated Recurrent Rhabdomyolysis and Exercise-Induced Myalgia Persisting into Adulthood: A Case Report and Review of Literature |
| title_full_unstemmed | Lipin-1 Deficiency-Associated Recurrent Rhabdomyolysis and Exercise-Induced Myalgia Persisting into Adulthood: A Case Report and Review of Literature |
| title_short | Lipin-1 Deficiency-Associated Recurrent Rhabdomyolysis and Exercise-Induced Myalgia Persisting into Adulthood: A Case Report and Review of Literature |
| title_sort | lipin 1 deficiency associated recurrent rhabdomyolysis and exercise induced myalgia persisting into adulthood a case report and review of literature |
| url | http://dx.doi.org/10.1155/2020/7904190 |
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