Rhabdomyolysis in a 9-year-old Syrian child due to homozygous nonsense variant in LPIN1 : A case report of a new pathogenic variant
5 affiliations
- 1Department of Pediatrics, Children’s University Hospital, Damascus, Syrian Arab Republic
- 2Faculty of Medicine, Beirut Arab University, Beirut, Lebanon
- 3Biomedical Research Center, QU Health, Qatar University, Doha, Qatar
- 4Department of Internal Medicine, Damascus University, Faculty of Medicine, Damascus, Syrian Arab Republic
- 5Rheumatology Department, Children’s University Hospital, Damascus, Syrian Arab Republic.
Abstract
Rationale:: Rhabdomyolysis is a life-threatening condition characterized by acute skeletal muscle breakdown, leading to the release of creatine kinase and myoglobin into the bloodstream. Mutations in the LPIN1 gene, which encodes lipin-1 (a key enzyme involved in lipid biosynthesis and fatty acid oxidation), represent a leading genetic cause of recurrent rhabdomyolysis in children.
Patient concerns:: A 9-year-old Syrian child with no significant family medical history presented with more than 17 episodes of rhabdomyolysis since the age of 2. The episodes were characterized by severe frontal headaches, vomiting, dark red urine, distal muscle weakness, and fever. The current episode had lasted for more than 2 weeks.
Diagnoses:: Whole-exome sequencing identified a novel homozygous pathogenic variant in the LPIN1 gene (c.2362C>T, p.Gln788*).
Interventions:: Supportive therapies including taking rest, intravenous fluid, and nutrition support were started.
Outcomes:: LPIN1 mutations account for approximately 60% of pediatric recurrent rhabdomyolysis cases in Western cohorts, driven by impaired fatty acid oxidation and mitochondrial dysfunction under catabolic stress. This case highlights a novel variant associated with severe, recurrent episodes and potential systemic complications, including acute kidney injury. The identification of this novel LPIN1 variant expands the known mutational spectrum of pediatric rhabdomyolysis.
Lessons:: This case underscores the critical role of genetic testing in the diagnosis of recurrent rhabdomyolysis. Early genetic confirmation enables timely intervention and the implementation of preventive strategies to reduce the risk of life-threatening complications.
Related
- A novel homozygous GLB1 pathogenic variant identified in two cases of infantile GM1 gangliosidosis.
- Childhood-onset parkinsonism, dystonia and severe muscle wasting in a Sudanese girl caused by a novel homozygous DnaJ heat shock protein family (heat shock protein 40) member C6 frameshift variant, with an incidental pathogenic breast cancer 1 gene secondary finding: a case report.
- PP–019 Expanding the b3galt6-related al-gazali/SEMDJL1 spectrum: progressive obstructive hydrocephalus, corpus callosum dysgenesis, and a novel homozygous C.638C>G variant in early infancy
- Novel Homozygous Consensus Splice Site Variant in the BORCS8 Gene Associated With Fetal Semi-lobar Holoprosencephaly
- Genetic characterization of a canine model of human GAPO syndrome caused by a nonsense variant in ANTXR1
BibTeX
@article{haddad2026rhabdomyolysis,
title = {{Rhabdomyolysis in a 9-year-old Syrian child due to homozygous nonsense variant in LPIN1 : A case report of a new pathogenic variant}},
author = {Sultaneh Haddad and Hana Diab and Hanan H. Abunada and Aya Saibouh and Dina Aldebs and Basheer Khalil},
journal = {Medicine},
year = {2026},
month = oct,
doi = {10.1097/md.0000000000051309},
url = {https://europepmc.org/article/PMC/PMC13727243},
note = {CC BY},
}
RIS
TY - JOUR
TI - Rhabdomyolysis in a 9-year-old Syrian child due to homozygous nonsense variant in LPIN1 : A case report of a new pathogenic variant
AU - Sultaneh Haddad
AU - Hana Diab
AU - Hanan H. Abunada
AU - Aya Saibouh
AU - Dina Aldebs
AU - Basheer Khalil
PY - 2026
DA - 2026/10/30
JO - Medicine
DO - 10.1097/md.0000000000051309
UR - https://europepmc.org/article/PMC/PMC13727243
AB - Rationale:: Rhabdomyolysis is a life-threatening condition characterized by acute skeletal muscle breakdown, leading to the release of creatine kinase and myoglobin into the bloodstream. Mutations in the LPIN1 gene, which encodes lipin-1 (a key enzyme involved in lipid biosynthesis and fatty acid oxidation), represent a leading genetic cause of recurrent rhabdomyolysis in children. Patient concerns:: A 9-year-old Syrian child with no significant family medical history presented with more than 17 episodes of rhabdomyolysis since the age of 2. The episodes were characterized by severe frontal headaches, vomiting, dark red urine, distal muscle weakness, and fever. The current episode had lasted for more than 2 weeks. Diagnoses:: Whole-exome sequencing identified a novel homozygous pathogenic variant in the LPIN1 gene (c.2362C>T, p.Gln788*). Interventions:: Supportive therapies including taking rest, intravenous fluid, and nutrition support were started. Outcomes:: LPIN1 mutations account for approximately 60% of pediatric recurrent rhabdomyolysis cases in Western cohorts, driven by impaired fatty acid oxidation and mitochondrial dysfunction under catabolic stress. This case highlights a novel variant associated with severe, recurrent episodes and potential systemic complications, including acute kidney injury. The identification of this novel LPIN1 variant expands the known mutational spectrum of pediatric rhabdomyolysis. Lessons:: This case underscores the critical role of genetic testing in the diagnosis of recurrent rhabdomyolysis. Early genetic confirmation enables timely intervention and the implementation of preventive strategies to reduce the risk of life-threatening complications.
SN - 0304-5412
SN - 1536-5964
SN - 0025-7974
ER -