{
  "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.\n\nPatient 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.\n\nDiagnoses:: Whole-exome sequencing identified a novel homozygous pathogenic variant in the LPIN1 gene (c.2362C>T, p.Gln788*).\n\nInterventions:: Supportive therapies including taking rest, intravenous fluid, and nutrition support were started.\n\nOutcomes:: 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.\n\nLessons:: 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.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Pediatrics, Children’s University Hospital, Damascus, Syrian Arab Republic",
    "Faculty of Medicine, Beirut Arab University, Beirut, Lebanon",
    "Biomedical Research Center, QU Health, Qatar University, Doha, Qatar",
    "Department of Internal Medicine, Damascus University, Faculty of Medicine, Damascus, Syrian Arab Republic",
    "Rheumatology Department, Children’s University Hospital, Damascus, Syrian Arab Republic."
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 6,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Sultaneh Haddad",
      "orcid": "0000-0002-2215-7506"
    },
    {
      "affs": [
        1
      ],
      "name": "Hana Diab"
    },
    {
      "affs": [
        2
      ],
      "name": "Hanan H. Abunada"
    },
    {
      "affs": [
        0
      ],
      "name": "Aya Saibouh"
    },
    {
      "affs": [
        3
      ],
      "name": "Dina Aldebs"
    },
    {
      "affs": [
        4
      ],
      "name": "Basheer Khalil"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/6yawr9fz62hrj.bib",
  "cited_by": 0,
  "doi": "10.1097/md.0000000000051309",
  "fulltext_url": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13727243/?tool=EBI",
  "id": "6yawr9fz62hrj",
  "issns": [
    "0304-5412",
    "1536-5964",
    "0025-7974"
  ],
  "landing_url": "https://europepmc.org/article/PMC/PMC13727243",
  "language": "eng",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "6200"
    ],
    [
      "heading",
      "Clinical Case Report"
    ],
    [
      "heading",
      "Research Article"
    ]
  ],
  "openalex": null,
  "pdf_url": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13727243/pdf/?tool=EBI",
  "pmcid": "PMC13727243",
  "pmid": null,
  "published": "2026-10-30",
  "publisher": "Wolters Kluwer Health",
  "ris": "https://research.draconitic.com/paper/6yawr9fz62hrj.ris",
  "sources": [
    {
      "first_seen": "2026-11-03T15:20:51Z",
      "native_id": "PMC:PMC13727243",
      "source": "europepmc",
      "url": "https://europepmc.org/article/PMC/PMC13727243"
    },
    {
      "first_seen": "2026-11-05T12:23:22Z",
      "native_id": "PMC13727243",
      "source": "pmc",
      "url": "https://doi.org/10.1097/md.0000000000051309"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "journal-openalex:F27",
      "subfield": "general"
    }
  ],
  "title": "Rhabdomyolysis in a 9-year-old Syrian child due to homozygous nonsense variant in LPIN1 : A case report of a new pathogenic variant",
  "title_text": "Rhabdomyolysis in a 9-year-old Syrian child due to homozygous nonsense variant in LPIN1 : A case report of a new pathogenic variant",
  "type": "peer-reviewed",
  "updated_at": "2026-11-06T12:22:58Z",
  "url": "https://research.draconitic.com/paper/6yawr9fz62hrj",
  "venue": "Medicine",
  "versions": []
}