Goldenhar syndrome: a cause of secondary immunodeficiency?

Allergy, Asthma & Clinical Immunology

Serge De Golovine²  Shuya Wu¹  Jill V Hunter⁴  William T Shearer³ 

[1] Medical Education Department, Driscoll Children’s Hospital, Corpus Christi, TX, USA

[2] Texas Children’s Hospital, Houston, TX, USA

[3] Section of Allergy and Immunology, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA

[4] Department of Pediatric Radiology, Baylor College of Medicine, Houston, TX, USA

关键词: Immunodeficiency;    Meningitis;    Otitis;    Sinusitis;    Recurrent infections;    Oculo-auriculo-vertebral dysplasia;    Hemifacial microsomia;    Goldenhar syndrome;   

Others  :  792459
DOI  :  10.1186/1710-1492-8-10

 received in 2012-02-14, accepted in 2012-06-04,  发布年份 2012

【 摘 要 】

Goldenhar syndrome (GS) results from an aberrant development of the 1^st and 2^nd branchial arches. There is a wide range of clinical manifestations, the most common being microtia, hemifacial microsomia, epibulbar dermoids and vertebral malformations. We present two cases of GS and secondary immunodeficiency due to anatomical defects characteristic of this disorder. Case 1 (3-year-old female) averaged 6 episodes of sinusitis and otitis media per year. Case 2 (7-year-old female) also had recurrent otitis media, an episode of bacterial pneumonia, and 2 episodes of bacterial meningitis. Their immune evaluation included a complete blood count with differential, serum immunoglobulin levels and specific antibody concentrations, lymphocyte phenotyping, and mitogen and antigen responses, the results of which were all within normal ranges. Both children demonstrated major structural abnormalities of the inner and middle ear structures, retention of fluid in mastoid air cells, and chronic sinusitis by computed tomography. These two cases illustrate how a genetically-associated deviation of the middle ear cleft can cause recurrent infections and chronic inflammation of the middle ear and adjacent sinuses, even meninges, leading to a greatly reduced quality of life for the child and parents.

【 授权许可】

   
2012 De Golovine et al.; licensee BioMed Central Ltd.

【 图 表 】

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