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Practical management in Wolcott-Rallison syndrome with associated hypothyroidism, neutropenia, and recurrent liver failure : A case report

Lundgren, Markus LU ; De Franco, Elisa ; Arnell, Henrik and Fischler, Björn (2019) In Clinical Case Reports 7(6). p.1133-1138
Abstract

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.

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author
; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
acute liver failure, monogenic diabetes, neonatal diabetes, pediatrics, skeletal dysplasia, Wolcott-Rallison syndrome
in
Clinical Case Reports
volume
7
issue
6
pages
6 pages
publisher
Wiley
external identifiers
  • pmid:31183082
  • scopus:85066928272
ISSN
2050-0904
DOI
10.1002/ccr3.2168
language
English
LU publication?
yes
id
58d5fdc7-5984-4d5b-878f-e3606f4a0b10
date added to LUP
2019-07-05 13:14:05
date last changed
2024-05-14 18:34:04
@article{58d5fdc7-5984-4d5b-878f-e3606f4a0b10,
  abstract     = {{<p>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.</p>}},
  author       = {{Lundgren, Markus and De Franco, Elisa and Arnell, Henrik and Fischler, Björn}},
  issn         = {{2050-0904}},
  keywords     = {{acute liver failure; monogenic diabetes; neonatal diabetes; pediatrics; skeletal dysplasia; Wolcott-Rallison syndrome}},
  language     = {{eng}},
  number       = {{6}},
  pages        = {{1133--1138}},
  publisher    = {{Wiley}},
  series       = {{Clinical Case Reports}},
  title        = {{Practical management in Wolcott-Rallison syndrome with associated hypothyroidism, neutropenia, and recurrent liver failure : A case report}},
  url          = {{http://dx.doi.org/10.1002/ccr3.2168}},
  doi          = {{10.1002/ccr3.2168}},
  volume       = {{7}},
  year         = {{2019}},
}