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

• Published in: Acta Paediatrica Vol. 92; no. 7; pp. 861 - 864
• Main Authors: Litzman, J, Bučková, H, Ventruba, J, Holčíková, A, Mikyška, P, Lokaj, J
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.07.2003; Blackwell
• Subjects: Adolescent; Agammaglobulinemia - complications; Agammaglobulinemia - diagnosis; Agammaglobulinemia - genetics; Biological and medical sciences; Brain - abnormalities; Chromosome aberrations; Chromosomes, Human, X - genetics; Cutis laxa; Cutis Laxa - complications; Cutis Laxa - diagnosis; Cutis Laxa - genetics; Dandy-Walker syndrome; Dandy-Walker Syndrome - complications; Dandy-Walker Syndrome - diagnosis; Dandy-Walker Syndrome - genetics; Female; Humans; hypogammaglobulinaemia; leucopenia; Leukopenia - complications; Leukopenia - diagnosis; Leukopenia - genetics; Magnetic Resonance Imaging; Medical genetics; Medical sciences; Point Mutation - genetics; Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis; Subclavian Artery - abnormalities; Human; Immunopathology; Skin disease; Nervous system diseases; Dandy-Walker syndrome; Elastic tissue disease; subclavian artery abnormalities; Dandy Walker malformation; Congenital disease; Immune deficiency; Cerebral disorder; Case study; Association; Malformation; Systemic disease; Central nervous system disease; Adolescent; leucopenia; Cutis laxa; hypogammaglobulinaemia
• ISSN: 0803-5253; 1651-2227
• DOI: 10.1111/j.1651-2227.2003.tb02549.x

We report on a 17‐y‐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 leucopenia 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 shown on a CT scan but with the exception of macrocrania, no typical signs or symptoms were observed at the age of 17. Loose hyperextensible skin with pendulous skinfolds 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. Conclusion: The combination of the rare disorders cutis laxa, Dandy‐Walker syndrome and immunodeficiency is reported here for the first time.