Severe Neonatal Cholestasis as an Early Presentation of McCune- Albright Syndrome
McCune-Albright syndrome (MAS) is a rare genetic disorder characterized by café-au-lait macules, polyostotic fibrous dysplasia and multiple endocrinopathies. Liver involvement, although described, is a rare complication. We review the case of a child with MAS whose initial presentation was character...
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| Format: | Article |
| Language: | English |
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Galenos Yayincilik
2019-03-01
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| Series: | JCRPE |
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http://www.jcrpe.org/archives/archive-detail/article-preview/severe-neonatal-cholestasis-as-an-early-presentati/19093
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| _version_ | 1797910073424478208 |
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| author | Nicole Coles Ian Comeau Tatiana Munoz Jennifer Harrington Roberto Mendoza-Londono Andreas Schulze Sari Kives Binita M. Kamath Jill Hamilton |
| author_facet | Nicole Coles Ian Comeau Tatiana Munoz Jennifer Harrington Roberto Mendoza-Londono Andreas Schulze Sari Kives Binita M. Kamath Jill Hamilton |
| author_sort | Nicole Coles |
| collection | DOAJ |
| description | McCune-Albright syndrome (MAS) is a rare genetic disorder characterized by café-au-lait macules, polyostotic fibrous dysplasia and multiple endocrinopathies. Liver involvement, although described, is a rare complication. We review the case of a child with MAS whose initial presentation was characterized by severe neonatal cholestasis. The case demonstrates a severe phenotype of persistent cholestasis in MAS requiring liver transplantation. This phenotype has been previously considered to be a more benign feature. This case highlights the importance of consideration of MAS as an uncommon but important cause of neonatal cholestasis. Early diagnosis may allow for prompt recognition and treatment of other endocrinopathies. |
| first_indexed | 2024-04-10T11:18:33Z |
| format | Article |
| id | doaj.art-0826887a26e6406ba18ce3e69deaa8af |
| institution | Directory Open Access Journal |
| issn | 1308-5727 1308-5735 |
| language | English |
| last_indexed | 2024-04-10T11:18:33Z |
| publishDate | 2019-03-01 |
| publisher | Galenos Yayincilik |
| record_format | Article |
| series | JCRPE |
| spelling | doaj.art-0826887a26e6406ba18ce3e69deaa8af2023-02-15T16:18:44ZengGalenos YayincilikJCRPE1308-57271308-57352019-03-0111110010310.4274/jcrpe.galenos.2018.2018.011013049054Severe Neonatal Cholestasis as an Early Presentation of McCune- Albright SyndromeNicole Coles0Ian Comeau1Tatiana Munoz2Jennifer Harrington3Roberto Mendoza-Londono4Andreas Schulze5Sari Kives6Binita M. Kamath7Jill Hamilton8 University of Toronto, Hospital for Sick Children, Clinic of Endocrinology, Toronto, Canada Montreal Children’s Hospital, Clinic of Adolescent Medicine and Paediatric Gynaecology, Montreal, Canada University of Toronto, Hospital for Sick Children, Clinic of Clinical and Metabolic Genetics, Toronto, Canada University of Toronto, Hospital for Sick Children, Clinic of Endocrinology, Toronto, Canada University of Toronto, Hospital for Sick Children, Clinic of Clinical and Metabolic Genetics, Toronto, Canada University of Toronto, Hospital for Sick Children, Clinic of Clinical and Metabolic Genetics, Toronto, Canada University of Toronto, Hospital for Sick Children, Clinic of Paediatric Gynaecology, Toronto, Canada University of Toronto, Hospital for Sick Children, Clinic of Gastroenterology, Hepatology and Nutrition, Toronto, Canada University of Toronto, Hospital for Sick Children, Clinic of Endocrinology, Toronto, Canada McCune-Albright syndrome (MAS) is a rare genetic disorder characterized by café-au-lait macules, polyostotic fibrous dysplasia and multiple endocrinopathies. Liver involvement, although described, is a rare complication. We review the case of a child with MAS whose initial presentation was characterized by severe neonatal cholestasis. The case demonstrates a severe phenotype of persistent cholestasis in MAS requiring liver transplantation. This phenotype has been previously considered to be a more benign feature. This case highlights the importance of consideration of MAS as an uncommon but important cause of neonatal cholestasis. Early diagnosis may allow for prompt recognition and treatment of other endocrinopathies. http://www.jcrpe.org/archives/archive-detail/article-preview/severe-neonatal-cholestasis-as-an-early-presentati/19093 McCune-Albright syndromeneonatal cholestasisprecocious puberty |
| spellingShingle | Nicole Coles Ian Comeau Tatiana Munoz Jennifer Harrington Roberto Mendoza-Londono Andreas Schulze Sari Kives Binita M. Kamath Jill Hamilton Severe Neonatal Cholestasis as an Early Presentation of McCune- Albright Syndrome JCRPE McCune-Albright syndrome neonatal cholestasis precocious puberty |
| title | Severe Neonatal Cholestasis as an Early Presentation of McCune- Albright Syndrome |
| title_full | Severe Neonatal Cholestasis as an Early Presentation of McCune- Albright Syndrome |
| title_fullStr | Severe Neonatal Cholestasis as an Early Presentation of McCune- Albright Syndrome |
| title_full_unstemmed | Severe Neonatal Cholestasis as an Early Presentation of McCune- Albright Syndrome |
| title_short | Severe Neonatal Cholestasis as an Early Presentation of McCune- Albright Syndrome |
| title_sort | severe neonatal cholestasis as an early presentation of mccune albright syndrome |
| topic | McCune-Albright syndrome neonatal cholestasis precocious puberty |
| url |
http://www.jcrpe.org/archives/archive-detail/article-preview/severe-neonatal-cholestasis-as-an-early-presentati/19093
|
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