Related Experiment Videos
Hypoglycemia in Coffin-Siris syndrome
K Imaizumi1, M Nakamura, M Masuno
1Division of Medical Genetics, Kanagawa Children's Medical Center, Japan.
American Journal of Medical Genetics
|October 23, 1995
Summary
This study reports a new case of Coffin-Siris syndrome, highlighting recurrent hypoglycemia attacks as a previously unrecognized clinical manifestation. Further research is needed to understand this association.
Area of Science:
- Medical Genetics
- Pediatric Endocrinology
Background:
- Coffin-Siris syndrome (CSS) is a rare genetic disorder characterized by developmental delay, distinctive facial features, and intellectual disability.
- While several clinical features of CSS are documented, metabolic derangements have not been extensively studied.
Observation:
- A patient with Coffin-Siris syndrome presented in early infancy with recurrent episodes of hypoglycemia.
- Comprehensive investigations at seven months of age failed to identify the underlying cause of the observed hypoglycemia.
Findings:
- Recurrent hypoglycemia is identified as a potentially novel clinical finding in Coffin-Siris syndrome.
- This case expands the phenotypic spectrum associated with Coffin-Siris syndrome.
Implications:
- Early recognition of hypoglycemia in infants with CSS is crucial for timely intervention and management.
- Further studies are warranted to elucidate the pathophysiology linking Coffin-Siris syndrome and hypoglycemia.
- This finding may prompt re-evaluation of metabolic screening in patients diagnosed with CSS.