Τίτλος:
Failure to Thrive in the Context of Carney Complex
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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. © 2017 S. Karger AG, Basel.
Συγγραφείς:
Tirosh, A.
Auerbach, A.
Bonella, B.
Zavras, P.D.
Belyavskaya, E.
Lyssikatos, C.
Meir, K.
Weiss, R.
Daum, H.
Lodish, M.B.
Gillis, D.
Stratakis, C.A.
Περιοδικό:
Hormone Research in Paediatrics
Λέξεις-κλειδιά:
alanine aminotransferase; aspartate aminotransferase; gamma glutamyltransferase, adolescent; adult; Article; body weight; Carney complex; child; comorbidity; corticotropin blood level; Cushing syndrome; failure to thrive; female; gene mutation; gene sequence; genetic analysis; human; human tissue; hydrocortisone blood level; immunohistochemistry; liver biopsy; male; preschool child; priority journal; retrospective study; school child; young adult; Carney complex; failure to thrive; follow up; genetics; infant; pathology, Adolescent; Adult; Carney Complex; Child; Child, Preschool; Failure to Thrive; Female; Follow-Up Studies; Humans; Infant; Male; Retrospective Studies
