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Failure to Thrive in the Context of Carney Complex
Amit Tirosh1,2, Adi Auerbach3, Belen Bonella4
1Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
Hormone Research in Paediatrics
|November 22, 2017
Summary
Carney complex (CNC) can present with failure to thrive (FTT) in children. This rare syndrome
Area of Science:
- Endocrinology
- Genetics
- Pediatrics
Background:
- Carney complex (CNC) is a rare genetic disorder.
- It is characterized by multiple tumors and unique clinical manifestations.
- Failure to thrive (FTT) is a significant concern in affected children.
Purpose of the Study:
- To describe clinical, genetic, and laboratory findings in pediatric patients with CNC and FTT.
- To identify the underlying causes of FTT in this cohort.
- To raise awareness of FTT as a potential presentation of CNC.
Main Methods:
- Retrospective case series.
- Analysis of pediatric patients diagnosed with CNC and FTT.
- Review of clinical, genetic, and laboratory data.
Main Results:
- One patient with infantile Cushing syndrome (CS) and severe FTT was diagnosed with CNC.
- Ten additional patients with CNC and FTT were identified over 22 years.
- Associated conditions included primary pigmented nodular adrenocortical disease (PPNAD), cardiac myxomas, and liver disease.
Conclusions:
- FTT in pediatric CNC patients can stem from various causes, including CS due to PPNAD and hepatic involvement.
- FTT represents a newly recognized presentation of CNC.
- Clinicians should consider CNC in children with unexplained FTT and associated manifestations.
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