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

J 2003

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

LITZMAN, Jiří, Hana BUČKOVÁ, Jiří VENTRUBA, Alena HOLČÍKOVÁ, Pavel MIKYŠKA et. al.

Basic information

Original name

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

Name in Czech

Současný výskyt imunodeficitu, cutis laxa a Dandy-Walkerova syndromu

Authors

LITZMAN, Jiří (203 Czech Republic, guarantor), Hana BUČKOVÁ (203 Czech Republic), Jiří VENTRUBA (203 Czech Republic), Alena HOLČÍKOVÁ (203 Czech Republic), Pavel MIKYŠKA (203 Czech Republic) and Jindřich LOKAJ (203 Czech Republic)

Edition

Acta Paediatrica, 2003, 0803-5253

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30209 Paediatrics

Country of publisher

Sweden

Confidentiality degree

není předmětem státního či obchodního tajemství

Impact factor

Impact factor: 1.128

RIV identification code

RIV/00216224:14110/03:00024055

Organization unit

Faculty of Medicine

UT WoS

000184185200021

Keywords in English

Cutis laxa; Dandy-Walker syndrome; hypogammaglobulinemia; leukopenia; subclavian artery - abnormalities

Abstract

ORIG CZ

V originále

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 susceptibility to 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.

In Czech

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

Links

NI7138, research and development project

Name: Fc receptory na buňkách imunitního systému a klinické projevy u nemocných s primární imunodeficiencí

Investor: Ministry of Health of the CR, Fc receptors on immune cells and clinical manifestation in patients with primary immunodeficiency

Citovat

LITZMAN, Jiří, Hana BUČKOVÁ, Jiří VENTRUBA, Alena HOLČÍKOVÁ, Pavel MIKYŠKA and Jindřich LOKAJ. A concurrent occurrence of cutis laxa, Dandy-Walker syndrome and immunodeficiency in a girl. Acta Paediatrica. 2003, vol. 92, No 7, p. 861-864. ISSN 0803-5253.

@article{554908,
   author = {Litzman, Jiří and Bučková, Hana and Ventruba, Jiří and Holčíková, Alena and Mikyška, Pavel and Lokaj, Jindřich},
   article_number = {7},
   keywords = {Cutis laxa; Dandy-Walker syndrome; hypogammaglobulinemia; leukopenia; subclavian artery - abnormalities},
   language = {eng},
   issn = {0803-5253},
   journal = {Acta Paediatrica},
   note = {Cutis laxa, Dandy-Walker syndrome, hypogammaglobulinemia, leukopenia, subclavian artery - abnormalities},
   title = {A concurrent occurrence of cutis laxa, Dandy-Walker syndrome and immunodeficiency in a girl},
   volume = {92},
   year = {2003}
}

TY  - JOUR
ID  - 554908
AU  - Litzman, Jiří - Bučková, Hana - Ventruba, Jiří - Holčíková, Alena - Mikyška, Pavel - Lokaj, Jindřich
PY  - 2003
TI  - A concurrent occurrence of cutis laxa, Dandy-Walker syndrome and immunodeficiency in a girl
JF  - Acta Paediatrica
VL  - 92
IS  - 7
SP  - 861-864
EP  - 861-864
SN  - 08035253
N1  - Cutis laxa, Dandy-Walker syndrome, hypogammaglobulinemia, leukopenia, subclavian artery - abnormalities
KW  - Cutis laxa
KW  - Dandy-Walker syndrome
KW  - hypogammaglobulinemia
KW  - leukopenia
KW  - subclavian artery - abnormalities
N2  - 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 susceptibility to 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.
ER  -

LITZMAN, Jiří, Hana BUČKOVÁ, Jiří VENTRUBA, Alena HOLČÍKOVÁ, Pavel MIKYŠKA and Jindřich LOKAJ. A concurrent occurrence of cutis laxa, Dandy-Walker syndrome and immunodeficiency in a girl. \textit{Acta Paediatrica}. 2003, vol.~92, No~7, p.~861-864. ISSN~0803-5253.

Detailed Information on Publication Record