Hepatic Lesions Associated With McCune Albright Syndrome
| Autor: | Wolfram Haller, Manigandan Thyagarajan, Patrick J. McKiernan, Lauren Johansen, Deirdre Kelly |
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| Rok vydání: | 2019 |
| Předmět: |
Male
musculoskeletal diseases endocrine system medicine.medical_specialty endocrine system diseases Fibrous Dysplasia Polyostotic McCune–Albright syndrome Hepatitis 03 medical and health sciences Cushing syndrome 0302 clinical medicine Growth hormone excess 030225 pediatrics Internal medicine Antineoplastic Combined Chemotherapy Protocols medicine Humans Precocious puberty Cholestasis GNAS Gene Mutation business.industry Thyroid disease Fibrous dysplasia Infant Newborn Gastroenterology medicine.disease Magnetic Resonance Imaging Cafe-au-lait macules body regions Endocrinology Liver Vincristine Pediatrics Perinatology and Child Health Dactinomycin Female 030211 gastroenterology & hepatology Cisplatin business hormones hormone substitutes and hormone antagonists |
| Zdroj: | Journal of Pediatric Gastroenterology & Nutrition. 68:e54-e57 |
| ISSN: | 1536-4801 0277-2116 |
| Popis: | McCune-Albright syndrome (MAS) results from a GNAS gene mutation. It is associated with café au lait macules, fibrous dysplasia, and several endocrinopathies to include gonadotropin-independent precocious puberty, growth hormone excess, Cushing syndrome, thyroid disease, and renal phosphate wasting. It is recognized to be a rare cause of neonatal cholestasis. We describe the hepatic outcome of 3 children with MAS referred to a single national liver unit. All presented with high gamma-glutamyl transpeptidase cholestasis and hepatitis. Cholestasis resolved by 1 year; but hepatic inflammation persisted, and 2 children developed progressive atypical focal nodular hyperplasia and 1 developed hepatoblastoma. This the first reported malignant hepatic lesion associated with MAS. MAS should be considered part of the differential diagnosis of neonatal cholestasis and affected children should be closely monitored for the development of hepatic lesions with regular liver ultrasound and alpha fetoprotein level. |
| Databáze: | OpenAIRE |
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