A concurrent occurrence of cutis laxa, Dandy-Walker syndrome and immunodeficiency in a girl

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F03%3A00024055" target="_blank" >RIV/00216224:14110/03:00024055 - isvavai.cz</a>

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

A concurrent occurrence of cutis laxa, Dandy-Walker syndrome and immunodeficiency in a girl

Original language description

We report on a 17-year-old girl with inherited cutis laxa, immunodeficiency and Dandy-Walker syndrome. Immunodeficiency manifested itself by decreased and fluctuating levels of IgG, IgA and IgM and intermittent leukopenia causing increased susceptibilityto respiratory tract infections. Dandy-Walker syndrome (agenesis of the cerebellar vermis with a large posterior fossa cyst communicating with an enlarged 4th ventricle) was demonstrated by a CT scan, but with the exception of macrocrania no typical signs or symptoms were observed at the age of 17. A loose hyperextensible skin with pendulous skin folds as a manifestation of cutis laxa was observed from birth. Anomalies of the right pulmonary artery, abnormal branching of the left arteria subclavia (arteria lusoria) from the left aortic arch and bicuspidal aortic valve were also present. To the knowledge of the authors this combination of relatively rare diseases has not been reported yet.

Czech name

Současný výskyt imunodeficitu, cutis laxa a Dandy-Walkerova syndromu

Czech description

Kazuistika díbky s e současným výskytem imunodeficitu, cutis laxa a Dandy-Walkerova syndromu

Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FG - Paediatrics

OECD FORD branch

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Project

<a href="/en/project/NI7138" target="_blank" >NI7138: Fc receptors on immune cells and clinical manifestation in patients with primary immunodeficiency</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2003

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Acta Paediatrica

ISSN

0803-5253

e-ISSN

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Volume of the periodical

92

Issue of the periodical within the volume

7

Country of publishing house

SE - SWEDEN

Number of pages

4

Pages from-to

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UT code for WoS article

000184185200021

EID of the result in the Scopus database

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