Cardiac conduction abnormalities and congenital immunodeficiency in a child with Kabuki syndrome: case report.

TitleCardiac conduction abnormalities and congenital immunodeficiency in a child with Kabuki syndrome: case report.
Publication TypeJournal Article
Year of Publication2005
AuthorsShah M, Bogucki B, Mavers M, deMello DE, Knutsen A
JournalBMC medical genetics
Volume6
Pagination28
Date Published2005 Jul 25
Abstract

BACKGROUND: Since it's recognition in 1981, a more complete phenotypei of Kabuki syndrome is becoming evident as additional cases are identified. Congenitali heart defects and a number of viscerali abnormalities have been added to the typical dysmorphic features originally described. CASE REPORT: In this report we describe the clinical course of a child diagnosed with Kabuki syndrome based on characteristic clinical, radiological and morphologic features who died of a cardiac arrhythmiai at 11-months of age. This infant, however, had abnormal pulmonaryi architecture and alterations in his cardiac conduction system resulting in episodes of bradycardia and asystole. This child also had an immunological phenotype consistent with common variable immunodeficiency. His clinical course consisted of numerous hospitalizations for recurrent bacterial infections and congenital hypogammaglobulinemiai characterized by low serumi IgG and IgA but normal IgM levels, and decreased antibody levels to immunizations. T-, B- and NK lymphocyte subpopulations and T-cell function studies were normal. CONCLUSION: This child may represent a more severe phenotype of Kabuki syndrome. Recurrent infections in a child should prompt a thorough immunological evaluation. Additionally, electrophysiology testing may be indicated if cardiopulmonary events occur which are not explained by anatomic defects.

Alternate JournalBMC Med. Genet.
Citation Key16042804