Amit Tirosh1,2, Adi Auerbach3, Belen Bonella4, Phaedon D Zavras5, Elena Belyavskaya1, Charalampos Lyssikatos1, Karen Meir6, Ram Weiss3, Hagit Daum7, Maya B Lodish1, David Gillis3, Constantine A Stratakis1. 1. Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA. 2. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. 3. Department of Pediatrics and Pediatric Endocrine Unit, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. 4. Hospital Italiano de Buenos Aires, Buenos Aires, Argentina. 5. School of Medicine, National and Kapodistrian University of Athens, Athens, Greece. 6. Department of Pathology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. 7. Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Abstract
BACKGROUND/AIMS: Carney complex (CNC) is a rare syndrome associated with multiple tumors and several other unique manifestations. We describe the clinical, genetic, and laboratory findings in a cohort of patients with CNC and failure to thrive (FTT). METHODS: A retrospective case series of pediatric patients with CNC presenting with FTT. RESULTS: We describe a patient with infantile Cushing syndrome (CS) who presented with severe FTT and liver disease; the patient was subsequently diagnosed with CNC. This led to the realization that at least 10 other patients with CNC and FTT have been investigated in the last 22 years at the Eunice Kennedy Shriver National Institute of Child Health and Human Development. Four of those had primary pigmented nodular adrenocortical disease (PPNAD), 2 had cardiac myxomas, and 3 had liver disease. CONCLUSION: Pediatric patients with CNC may present with FTT whose primary cause is variable and includes CS due to PPNAD, hepatic involvement, and other manifestations of CNC. FTT due to liver disease and/or other causes is a unique new presentation of this rare syndrome with which clinicians need to be familiar.
BACKGROUND/AIMS: Carney complex (CNC) is a rare syndrome associated with multiple tumors and several other unique manifestations. We describe the clinical, genetic, and laboratory findings in a cohort of patients with CNC and failure to thrive (FTT). METHODS: A retrospective case series of pediatric patients with CNC presenting with FTT. RESULTS: We describe a patient with infantile Cushing syndrome (CS) who presented with severe FTT and liver disease; the patient was subsequently diagnosed with CNC. This led to the realization that at least 10 other patients with CNC and FTT have been investigated in the last 22 years at the Eunice Kennedy Shriver National Institute of Child Health and Human Development. Four of those had primary pigmented nodular adrenocortical disease (PPNAD), 2 had cardiac myxomas, and 3 had liver disease. CONCLUSION: Pediatric patients with CNC may present with FTT whose primary cause is variable and includes CS due to PPNAD, hepatic involvement, and other manifestations of CNC. FTT due to liver disease and/or other causes is a unique new presentation of this rare syndrome with which clinicians need to be familiar.
Authors: Amit Tirosh; Ahmed Hamimi; Fabio Faucz; Genya Aharon-Hananel; Phaedon D Zavras; Belen Bonella; Adi Auerbach; David Gillis; Charalampos Lyssikatos; Elena Belyavskaya; Constantine A Stratakis; Ahmed M Gharib Journal: Endocr Relat Cancer Date: 2020-06 Impact factor: 5.678