An unexpected presentation of very severe hypertriglyceridemia in a boy with Coffin-Lowry syndrome: a case report.

ABSTRACT:

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 serio

SUBMITTER: Tan SL 

PROVIDER: S-EPMC10612235 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature