A rare case of adult onset LPIN1 associated rhabdomyolysis
| Autor: | Thomas Minton, Kathryn Urankar, Stefen Brady, Natalie Forrester, Sami Al Baba |
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| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Pediatrics medicine.medical_specialty business.industry medicine.disease Compound heterozygosity 03 medical and health sciences Exon 030104 developmental biology 0302 clinical medicine Neurology Pediatrics Perinatology and Child Health Rare case medicine Missense mutation Neurology (clinical) medicine.symptom business Myopathy Rhabdomyolysis 030217 neurology & neurosurgery Genetics (clinical) |
| Zdroj: | Neuromuscular Disorders. 30:241-245 |
| ISSN: | 0960-8966 |
| Popis: | Pathogenic variants in LPIN1 are a recognised cause of severe and often fatal rhabdomyolysis in childhood. We present a rare case of adult onset recurrent rhabdomyolysis due to compound heterozygous variants in LPIN1. Despite first presenting with rhabdomyolysis in his twenties and having undergone extensive investigations, the patient did not receive a diagnosis until he was 46 years of age. DNA sequencing revealed a pathogenic deletion involving exon 18 of LPIN1 in conjunction with a c.2410G>A missense variant in exon 19. Whilst LPIN1 variants are a noteworthy cause of severe recurrent rhabdomyolysis in childhood, this is the first detailed description and only the second reported case of adult onset rhabdomyolysis. Variants in LPIN1 should be considered as a cause of recurrent severe rhabdomyolysis in adults when other more common causes have been excluded. |
| Databáze: | OpenAIRE |
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