Failure to Thrive in the Context of Carney Complex

Amit Tirosh, Adi Auerbach, Belen Bonella, Phaedon D. Zavras, Elena Belyavskaya, Charalampos Lyssikatos, Karen Meir, Ram Weiss, Hagit Daum, Maya B. Lodish, David Gillis, Constantine A. Stratakis

Research output: Contribution to journalArticlepeer-review


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 wassubsequently diagnosed with CNC. This led to the realizationthat 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.

Original languageEnglish
Pages (from-to)38-46
Number of pages9
JournalHormone Research in Paediatrics
Issue number1
StatePublished - 1 Feb 2018


  • Carney complex
  • Failure to thrive
  • Liver disease


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