An unexpected presentation of very severe hypertriglyceridemia in a boy with Coffin-Lowry syndrome : a case report
Background Coffin-Lowry syndrome (CLS) is a rare X-linked condition with intellectual disability, growth retardation, characteristic facies and skeletal anomalies. To date, hypertriglyceridemia has not been reported in literature to be associated with CLS. Case Presentation Herein, we report...
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| Main Authors: | , , |
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| Format: | Article |
| Language: | en |
| Published: |
Springer Nature
2023
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| Subjects: | |
| Online Access: | http://ir.unimas.my/id/eprint/43239/3/An%20unexpected.pdf http://ir.unimas.my/id/eprint/43239/ https://bmcpediatr.biomedcentral.com/articles/10.1186/s12887-023-04376-5 https://doi.org/10.1186/s12887-023-04376-5 |
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| Summary: | Background
Coffin-Lowry syndrome (CLS) is a rare X-linked condition with intellectual disability, growth retardation, characteristic facies and skeletal anomalies. To date, hypertriglyceridemia has not been reported in literature to be associated with CLS.
Case Presentation
Herein, we report a case of very severe hypertriglyceridemia 32 mmol/L (2834 mg/dL) detected incidentally at three months old in an otherwise well boy born late preterm with intrauterine growth restriction, when he presented with lipaemic plasma. He was later diagnosed with CLS. No pathogenic mutations were found for hypertriglyceridemia, and no secondary causes could explain his very severe hypertriglyceridemia.
Conclusions
The very severe hypertriglyceridemia in this case may appear to be a serious presentation of an unrecognised clinical feature of CLS, further expanding its phenotype. |
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