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.

Základní údaje

Originální název

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

Název česky

Současný výskyt imunodeficitu, cutis laxa a Dandy-Walkerova syndromu

Autoři

LITZMAN, Jiří (203 Česká republika, garant), Hana BUČKOVÁ (203 Česká republika), Jiří VENTRUBA (203 Česká republika), Alena HOLČÍKOVÁ (203 Česká republika), Pavel MIKYŠKA (203 Česká republika) a Jindřich LOKAJ (203 Česká republika)

Vydání

Acta Paediatrica, 2003, 0803-5253

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30209 Paediatrics

Stát vydavatele

Švédsko

Utajení

není předmětem státního či obchodního tajemství

Impakt faktor

Impact factor: 1.128

Kód RIV

RIV/00216224:14110/03:00024055

Organizační jednotka

Lékařská fakulta

UT WoS

000184185200021

Klíčová slova anglicky

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

Štítky

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

Změněno: 2. 4. 2010 08:14, prof. MUDr. Jiří Litzman, CSc.

Anotace

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.

Česky

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

Návaznosti

NI7138, projekt VaV

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

Investor: Ministerstvo zdravotnictví ČR, Fc receptory na buňkách imunitního systému a klinické projevy u nemocných s primární imunodeficiencí

Citovat

LITZMAN, Jiří, Hana BUČKOVÁ, Jiří VENTRUBA, Alena HOLČÍKOVÁ, Pavel MIKYŠKA a Jindřich LOKAJ. A concurrent occurrence of cutis laxa, Dandy-Walker syndrome and immunodeficiency in a girl. Acta Paediatrica. 2003, roč. 92, č. 7, s. 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 a Jindřich LOKAJ. A concurrent occurrence of cutis laxa, Dandy-Walker syndrome and immunodeficiency in a girl. \textit{Acta Paediatrica}. 2003, roč.~92, č.~7, s.~861-864. ISSN~0803-5253.

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