LPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy

Molecular Genetics and Metabolism Reports

C. Brunel-Guitton¹  F. Sasarman¹  P. Major²  M. Vanasse²  I.A. Meijer²  E. Rossignol²  G.A. Mitchell³  C. Maftei³ 

[1] Division of Biochemical Genetics Laboratory, Université de Montréal and CHU Sainte Justine, 3175 Côte Sainte-Catherine, Montreal, Quebec H3T 1C5, Canada;Division of Pediatric Neurology, Department of Pediatrics, Université de Montréal, and CHU Sainte Justine, 3175 Côte Sainte-Catherine, Montreal, Quebec H3T 1C5, Canada;Medical Genetics, Department of Pediatrics, Université de Montréal and CHU Sainte Justine, 3175 Côte Sainte-Catherine, Montreal, Quebec H3T 1C5, Canada;

关键词: Creatine kinase;    Rhabdomyolysis;    LPIN1;    Lipin-1;    Chromosome 2;    Uniparental disomy;    Treatment;   

DOI  :  10.1016/j.ymgmr.2015.10.010

来源: DOAJ

【 摘 要 】

Fatty acid oxidation disorders and lipin-1 deficiency are the commonest genetic causes of rhabdomyolysis in children. We describe a lipin-1-deficient boy with recurrent, severe rhabdomyolytic episodes from the age of 4 years. Analysis of the LPIN1 gene that encodes lipin-1 revealed a novel homozygous frameshift mutation in exon 9, c.1381delC (p.Leu461SerfsX47), and complete uniparental isodisomy of maternal chromosome 2. This mutation is predicted to cause complete lipin-1 deficiency. The patient had six rhabdomyolytic crises, with creatine kinase (CK) levels up to 300,000 U/L (normal, 30 to 200). Plasma CK remained elevated between crises. A treatment protocol was instituted, with early aggressive monitoring, hydration, electrolyte replacement and high caloric, high carbohydrate intake. The patient received dexamethasone during two crises, which was well-tolerated and in these episodes, peak CK values were lower than in preceding episodes. Studies of anti-inflammatory therapy may be indicated in lipin-1 deficiency.

【 授权许可】

Unknown