Liraglutide use in pediatric type 2 familial partial lipodystrophy caused by LMNA mutation: a case report
Bibliographic record
Abstract
BACKGROUND: Type 2 familial partial lipodystrophy (FPLD2), or Dunnigan syndrome, is a rare genetic disorder characterized by selective subcutaneous fat loss, metabolic complications, and insulin resistance due to LMNA gene mutations. This case report describes the clinical presentation and treatment of a Chinese family with FPLD2, highlighting liraglutide's role in glycemic and lipid control. CASE PRESENTATION: The index patient is a 14-year-old girl, presenting with fat accumulation in the neck, loss of subcutaneous fat on the face, arms, legs, and trunk, and metabolic complications including diabetes mellitus with insulin resistance, hepatomegaly, and dyslipidemia. The diagnosis of FPLD2 was confirmed by the identification of a heterozygous mutation c.1456 A > G (p. Lys486Glu) in exon 8 of the LMNA gene. The patient was initially treated with a diabetic diet, metformin, and insulin therapy, but glycemic control was only achieved after introducing liraglutide, resulting in satisfactory control within two months. The variable manifestations of FPLD2 within the family (the proband, her father, and elder sister), all carrying the same LMNA mutation are presented, highlighting the complexity of this genetic disorder. The fast clinical response to liraglutide in our patient suggests a potential therapeutic role for Glucagon-like peptide-1 receptor agonists in the management of metabolic complications in FPLD2. CONCLUSIONS: This case report underscores the importance of recognizing the variable expressivity of FPLD2 and the potential role of liraglutide in managing glycemic and lipid in pediatric patients. It also highlights the need for further research to explore novel therapeutic strategies for the metabolic complications associated with FPLD2.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".