Practical management in Wolcott‐Rallison syndrome with associated hypothyroidism, neutropenia, and recurrent liver failure: A case report
Key Clinical Message Wolcott‐Rallison syndrome is a rare genetic syndrome of neonatal diabetes, liver failure, and growth retardation. We present a case with a EIF2AK3 p.(Arg902Ter) mutation, additionally complicated by hypothyroidism, impaired renal function, and exocrine pancreas insufficiency, fo...
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Wiley
2019-06-01
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| Series: | Clinical Case Reports |
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| Online Access: | https://doi.org/10.1002/ccr3.2168 |
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doaj-798b5f8532304f8e81eb05e26f5fc96d2020-11-24T21:34:28ZengWileyClinical Case Reports2050-09042019-06-01761133113810.1002/ccr3.2168Practical management in Wolcott‐Rallison syndrome with associated hypothyroidism, neutropenia, and recurrent liver failure: A case reportMarkus Lundgren0Elisa De Franco1Henrik Arnell2Björn Fischler3Department of Clinical Sciences, CRC Malmö Lund University Malmö SwedenInstitute of Biomedical & Clinical Science University of Exeter Exeter UKDepartment of Pediatric Gastroenterology, Hepatology and Nutrition Karolinska University Hospital Stockholm SwedenDepartment of Pediatric Gastroenterology, Hepatology and Nutrition Karolinska University Hospital Stockholm SwedenKey Clinical Message Wolcott‐Rallison syndrome is a rare genetic syndrome of neonatal diabetes, liver failure, and growth retardation. We present a case with a EIF2AK3 p.(Arg902Ter) mutation, additionally complicated by hypothyroidism, impaired renal function, and exocrine pancreas insufficiency, focusing on clinical management. For its optimization, thorough care of multiple organ systems is needed.https://doi.org/10.1002/ccr3.2168acute liver failuremonogenic diabetesneonatal diabetespediatricsskeletal dysplasiaWolcott‐Rallison syndrome |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Markus Lundgren Elisa De Franco Henrik Arnell Björn Fischler |
| spellingShingle |
Markus Lundgren Elisa De Franco Henrik Arnell Björn Fischler Practical management in Wolcott‐Rallison syndrome with associated hypothyroidism, neutropenia, and recurrent liver failure: A case report Clinical Case Reports acute liver failure monogenic diabetes neonatal diabetes pediatrics skeletal dysplasia Wolcott‐Rallison syndrome |
| author_facet |
Markus Lundgren Elisa De Franco Henrik Arnell Björn Fischler |
| author_sort |
Markus Lundgren |
| title |
Practical management in Wolcott‐Rallison syndrome with associated hypothyroidism, neutropenia, and recurrent liver failure: A case report |
| title_short |
Practical management in Wolcott‐Rallison syndrome with associated hypothyroidism, neutropenia, and recurrent liver failure: A case report |
| title_full |
Practical management in Wolcott‐Rallison syndrome with associated hypothyroidism, neutropenia, and recurrent liver failure: A case report |
| title_fullStr |
Practical management in Wolcott‐Rallison syndrome with associated hypothyroidism, neutropenia, and recurrent liver failure: A case report |
| title_full_unstemmed |
Practical management in Wolcott‐Rallison syndrome with associated hypothyroidism, neutropenia, and recurrent liver failure: A case report |
| title_sort |
practical management in wolcott‐rallison syndrome with associated hypothyroidism, neutropenia, and recurrent liver failure: a case report |
| publisher |
Wiley |
| series |
Clinical Case Reports |
| issn |
2050-0904 |
| publishDate |
2019-06-01 |
| description |
Key Clinical Message Wolcott‐Rallison syndrome is a rare genetic syndrome of neonatal diabetes, liver failure, and growth retardation. We present a case with a EIF2AK3 p.(Arg902Ter) mutation, additionally complicated by hypothyroidism, impaired renal function, and exocrine pancreas insufficiency, focusing on clinical management. For its optimization, thorough care of multiple organ systems is needed. |
| topic |
acute liver failure monogenic diabetes neonatal diabetes pediatrics skeletal dysplasia Wolcott‐Rallison syndrome |
| url |
https://doi.org/10.1002/ccr3.2168 |
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AT markuslundgren practicalmanagementinwolcottrallisonsyndromewithassociatedhypothyroidismneutropeniaandrecurrentliverfailureacasereport AT elisadefranco practicalmanagementinwolcottrallisonsyndromewithassociatedhypothyroidismneutropeniaandrecurrentliverfailureacasereport AT henrikarnell practicalmanagementinwolcottrallisonsyndromewithassociatedhypothyroidismneutropeniaandrecurrentliverfailureacasereport AT bjornfischler practicalmanagementinwolcottrallisonsyndromewithassociatedhypothyroidismneutropeniaandrecurrentliverfailureacasereport |
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