Abstract
Recurrent rhabdomyolysis is frequently ascribed to fatty acid ß-oxidation defects, mitochondrial respiratory chain disorders and glycogen storage-related diseases. In recent years, autosomal recessive LPIN1 mutations have been identified as a prevailing cause of severe rhabdomyolysis in children in Western countries. We report the first probable Hong Kong Chinese case of recurrent severe rhabdomyolysis in early childhood caused by LPIN1 variants. Compound heterozygous novel variants NM_145693.2(LPIN1):c.[1949_1967dupGTGTCACCACGCAGTACCA]; [2410G>C] (p.[Gly657Cysfs*12];[Asp804His]) were detected. The former variant was classified as likely pathogenic while the latter variant was classified as a variant of uncertain significance (VUS) based on the guideline published by the American College of Medical Genetics and Genomics (ACMG) in 2015. Although the genetic findings were inconclusive, the patient's presentation was compatible with LPIN1-related acute recurrent rhabdomyolysis, and the patient was treated as such. The early recognition, timely diagnosis and management of this condition are important to avoid fatal consequences. To our knowledge, there has been no previous report in the English-language literature of a child with Chinese ethnicity and LPIN1-related acute recurrent rhabdomyolysis (MIM #268200). Functional characterization of the novel variants detected in this study are warranted in future studies.
Highlights
Rhabdomyolysis is an uncommon but potentially fatal condition
Autosomal recessive mutations in Lipin 1 (LPIN1) are being increasingly recognized as an important cause of acute recurrent rhabdomyolysis in childhood in the Western population, after the exclusion of fatty acid ß-oxidation defects (FAOD), mitochondrial respiratory chain disorders and glycogen storage diseases
Apart from acute recurrent rhabdomyolysis, LPIN1 variants have been found in adults with statininduced myopathy, metabolic syndrome and type 2 diabetes mellitus[8,9,10,11]
Summary
Rhabdomyolysis is an uncommon but potentially fatal condition. It results from an acute muscle fiber breakdown resulting in the release of intracellular muscle constituents into the circulation. Case report A 15-month-old boy was brought to the hospital complaining of coryzal symptoms for three days, and dyspnea and fever for one day He was seen by a general practitioner a day prior to the admission and was given an intramuscular injection of an uncertain drug for his illness. He was well built with a weight and height at the 50th and 75th percentile, respectively, for his age and sex Investigations during this admission again revealed an elevated CK (27,442 U/L), LDH (658 U/L) and ALT (138 U/L). The genetic findings were inconclusive, the patient’s clinical presentation was compatible with LPIN1-related acute recurrent rhabdomyolysis, and muscle biopsy was not done. Post-natal genetic test on the younger sister confirmed that she carried the two familial heterozygous variants; upon this finding, counselling was given to the parents
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