BMC Pediatrics · 3 authors, 3 centres
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A 3-month-old boy with Coffin-Lowry syndrome was incidentally found to have very severe hypertriglyceridemia (32 mmol/L) with no identifiable primary or secondary cause, suggesting hypertriglyceridemia may be an unrecognized feature of Coffin-Lowry syndrome.
A 3-month-old boy born late preterm with intrauterine growth restriction was incidentally found to have lipaemic plasma during routine blood sampling. Repeat fasting triglyceride level was 32 mmol/L (2834 mg/dL), classified as very severe hypertriglyceridemia. No primary genetic cause (including lipoprotein lipase deficiency) or secondary cause (diabetes, obesity, hypothyroidism, medications) was identified. Whole exome sequencing confirmed Coffin-Lowry syndrome via a hemizygous RPS6KA3 mutation but revealed no pathogenic mutations for hypertriglyceridemia. Breast milk was replaced with Portagen formula containing medium-chain triglycerides, and triglyceride levels improved remarkably. By approximately two years old, the patient tolerated a regular diet with acceptable triglyceride levels. The authors hypothesize that the transient severe hypertriglyceridemia may represent an unrecognized clinical feature of Coffin-Lowry syndrome. Limitations include the single-case design, uncertain significance of the RPS6KA3 variant, absence of parental genetic testing, and inability to perform family segregation studies.
