Neonatal McCune-Albright syndrome with systemic involvement: a case report

Journal of Medical Case Reports
Rita LourençoGraça Oliveira

Abstract

McCune-Albright syndrome is a rare sporadic disease characterized by fibrous bone dysplasia, café-au-lait skin spots and variable hyperfunctional endocrinopathies. McCune-Albright syndrome is caused by somatic postzygotic activating mutations in the GNAS gene that produce a broad spectrum of effects. We report a case of McCune-Albright syndrome with multi-organ manifestations in the neonatal period. A newborn preterm black girl was referred to our Neonatal Intensive Care Unit at the age of 17 days for suspected extrahepatic cholestasis. On clinical examination she presented failure to thrive, jaundice, hypertension, marked hypotonia and café-au-lait spots on her back and lower limbs. An abdominal ultrasound excluded extrahepatic causes of cholestasis but revealed bilateral serpiginous adrenal hyperplasia. These clinical findings suggested a diagnosis of McCune-Albright syndrome with multi-organ involvement. Laboratory data confirmed adrenocorticotropic hormone-independent Cushing's syndrome, hyperthyroidism, cholestasis and elevated transaminases. Ventricular hypertrophy was demonstrated by echocardiography. The baby girl underwent medical treatment of Cushing's syndrome with metyrapone which was followed by a rapid recovery. A...Continue Reading

References

Oct 1, 1991·Acta paediatrica Scandinavica·M YoshimotoY Tsuji
Dec 12, 1991·The New England Journal of Medicine·L S WeinsteinA M Spiegel
Feb 14, 2002·Pediatric Dermatology·J H DaviesC Mills
Sep 13, 2003·The Journal of Clinical Endocrinology and Metabolism·Michael T CollinsAndrew Shenker
Mar 20, 2008·The Journal of Clinical Endocrinology and Metabolism·Francesco S CeliMichael T Collins
May 21, 2008·Orphanet Journal of Rare Diseases·Claudia E Dumitrescu, Michael T Collins
Feb 17, 2010·The Journal of Clinical Endocrinology and Metabolism·Rebecca J BrownMichael T Collins
Jun 1, 2012·Orphanet Journal of Rare Diseases·Michael T CollinsErica Eugster

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Citations

Jul 14, 2016·American Journal of Medical Genetics. Part a·Melinda Pierce, Brian Scottoline
Oct 30, 2016·The Journal of Pediatrics·Yasuhiro IkawaAkihiro Yachie
Dec 5, 2017·Global Pediatric Health·Mustafa TosurGeorge S Jeha
Jul 23, 2020·Journal of Pediatric Endocrinology & Metabolism : JPEM·Carmen de MingoAna García-Robles
Aug 28, 2020·Frontiers in Endocrinology·Maria TufanoStefano Stagi
Jun 24, 2017·The Journal of Pediatric Pharmacology and Therapeutics : JPPT : the Official Journal of PPAG·Kate VerbeetenJaime McDonald
Jul 31, 2019·Hormone Research in Pædiatrics·Prapai DejkhamronVorasuk Shotelersuk

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