Neonatal cholestasis as the onset symptom of McCune–Albright syndrome: case reports and a literature review
AimThis study aimed to summarize and show the characteristics and evolutionary process of neonatal cholestasis caused by McCune–Albright syndrome (MAS), as neonatal cholestasis may be the initial manifestation of MAS before other classic clinical features appear.MethodsThe clinical characteristics,...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-10-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2023.1275162/full |
| _version_ | 1827795741417930752 |
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| author | Weiyuan Fang Yanhui Zhang Lian Chen Xinbao Xie |
| author_facet | Weiyuan Fang Yanhui Zhang Lian Chen Xinbao Xie |
| author_sort | Weiyuan Fang |
| collection | DOAJ |
| description | AimThis study aimed to summarize and show the characteristics and evolutionary process of neonatal cholestasis caused by McCune–Albright syndrome (MAS), as neonatal cholestasis may be the initial manifestation of MAS before other classic clinical features appear.MethodsThe clinical characteristics, treatment methods, and outcomes of three neonatal cholestasis cases caused by MAS in our center were retrospectively studied. In addition, all the reported cases of MAS combined with cholestasis were reviewed and summarized to show the cholestatic features in them.ResultsWe have confirmed three MAS cases in our center, presenting onset symptoms of jaundice, pale stool, and neonatal cholestasis soon after birth. The cholestasis subsided spontaneously at around the sixth month. The literature review showed that the levels of total bilirubin, conjugated bilirubin, ALT, AST, and GGT in neonatal MAS cholestasis cases were 207 μmol/L (range 65–445 μmol/L), 162 μmol/L (range 46–412 μmol/L), 821 U/L (range 85–3,597 U/L), 532 U/L (range 127–3,633 U/L), and 244 U/L (range 79–3,800 U/L), respectively. Liver histology showed canalicular and hepatocellular cholestasis, giant hepatic cell transformation, and bile paucity. Extrahepatic manifestations such as café-au-lait pigmented skin lesions, Cushing's syndrome, hyperthyroidism, renal tubular dysfunction, and skeletal abnormalities could occur simultaneously when jaundice occurred. GNAS mutations had a high positive rate (83.3%–100%) in liver tissue with cholestasis. Neonatal cholestasis caused by MAS could be self-resolved, but hepatic lesions persist and have malignant potential.ConclusionMAS can be one of the causes of neonatal cholestasis, which may be the first manifestation of the disease. Extrahepatic coexisting symptoms of MAS and liver histology can help to distinguish MAS from other etiology of cholestasis. Detecting GNAS mutations in liver tissue may shorten diagnostic time and is of particular interest in the partial and atypical forms of MAS with neonatal cholestasis. Neonatal cholestasis in children with MAS can self-resolve, but liver dysfunction and malignant lesions persist. |
| first_indexed | 2024-03-11T18:54:46Z |
| format | Article |
| id | doaj.art-90807bb4212843c38ccd20968c95969e |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-03-11T18:54:46Z |
| publishDate | 2023-10-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Pediatrics |
| spelling | doaj.art-90807bb4212843c38ccd20968c95969e2023-10-11T06:07:30ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602023-10-011110.3389/fped.2023.12751621275162Neonatal cholestasis as the onset symptom of McCune–Albright syndrome: case reports and a literature reviewWeiyuan Fang0Yanhui Zhang1Lian Chen2Xinbao Xie3Pediatric Liver Center, Children’s Hospital of Fudan University, Shanghai, ChinaInfectious Disease Department, Qingdao Women and Children’s Hospital, Qingdao, ChinaDepartment of Pathology, Children’s Hospital of Fudan University, Shanghai, ChinaPediatric Liver Center, Children’s Hospital of Fudan University, Shanghai, ChinaAimThis study aimed to summarize and show the characteristics and evolutionary process of neonatal cholestasis caused by McCune–Albright syndrome (MAS), as neonatal cholestasis may be the initial manifestation of MAS before other classic clinical features appear.MethodsThe clinical characteristics, treatment methods, and outcomes of three neonatal cholestasis cases caused by MAS in our center were retrospectively studied. In addition, all the reported cases of MAS combined with cholestasis were reviewed and summarized to show the cholestatic features in them.ResultsWe have confirmed three MAS cases in our center, presenting onset symptoms of jaundice, pale stool, and neonatal cholestasis soon after birth. The cholestasis subsided spontaneously at around the sixth month. The literature review showed that the levels of total bilirubin, conjugated bilirubin, ALT, AST, and GGT in neonatal MAS cholestasis cases were 207 μmol/L (range 65–445 μmol/L), 162 μmol/L (range 46–412 μmol/L), 821 U/L (range 85–3,597 U/L), 532 U/L (range 127–3,633 U/L), and 244 U/L (range 79–3,800 U/L), respectively. Liver histology showed canalicular and hepatocellular cholestasis, giant hepatic cell transformation, and bile paucity. Extrahepatic manifestations such as café-au-lait pigmented skin lesions, Cushing's syndrome, hyperthyroidism, renal tubular dysfunction, and skeletal abnormalities could occur simultaneously when jaundice occurred. GNAS mutations had a high positive rate (83.3%–100%) in liver tissue with cholestasis. Neonatal cholestasis caused by MAS could be self-resolved, but hepatic lesions persist and have malignant potential.ConclusionMAS can be one of the causes of neonatal cholestasis, which may be the first manifestation of the disease. Extrahepatic coexisting symptoms of MAS and liver histology can help to distinguish MAS from other etiology of cholestasis. Detecting GNAS mutations in liver tissue may shorten diagnostic time and is of particular interest in the partial and atypical forms of MAS with neonatal cholestasis. Neonatal cholestasis in children with MAS can self-resolve, but liver dysfunction and malignant lesions persist.https://www.frontiersin.org/articles/10.3389/fped.2023.1275162/fullMcCune–Albright syndrome (MAS)neonatal cholestasisGNASliver histologyliver |
| spellingShingle | Weiyuan Fang Yanhui Zhang Lian Chen Xinbao Xie Neonatal cholestasis as the onset symptom of McCune–Albright syndrome: case reports and a literature review Frontiers in Pediatrics McCune–Albright syndrome (MAS) neonatal cholestasis GNAS liver histology liver |
| title | Neonatal cholestasis as the onset symptom of McCune–Albright syndrome: case reports and a literature review |
| title_full | Neonatal cholestasis as the onset symptom of McCune–Albright syndrome: case reports and a literature review |
| title_fullStr | Neonatal cholestasis as the onset symptom of McCune–Albright syndrome: case reports and a literature review |
| title_full_unstemmed | Neonatal cholestasis as the onset symptom of McCune–Albright syndrome: case reports and a literature review |
| title_short | Neonatal cholestasis as the onset symptom of McCune–Albright syndrome: case reports and a literature review |
| title_sort | neonatal cholestasis as the onset symptom of mccune albright syndrome case reports and a literature review |
| topic | McCune–Albright syndrome (MAS) neonatal cholestasis GNAS liver histology liver |
| url | https://www.frontiersin.org/articles/10.3389/fped.2023.1275162/full |
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