Abstract
Goldenhar syndrome (GS) results from an aberrant development of the 1st and 2nd 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.
Highlights
Goldenhar syndrome (GS), known as hemifacial microsomia, oculo-auriculo-vertebral anomaly, dysplasia or spectrum, results from an aberrant development of the 1st and 2nd branchial arches [1]
There is a wide range of clinical manifestations, the most common being microtia, hemifacial microsomia, pre-auricular skin tags, epibulbar dermoids, and vertebral malformations (Figure 1)
Case presentation 1 A 3-year-old female child with GS was referred to the Allergy and Immunology Clinic at Texas Children’s Hospital for evaluation of recurrent infections
Summary
Goldenhar syndrome (GS), known as hemifacial microsomia, oculo-auriculo-vertebral anomaly, dysplasia or spectrum, results from an aberrant development of the 1st and 2nd branchial arches [1]. Case presentation 1 A 3-year-old female child with GS was referred to the Allergy and Immunology Clinic at Texas Children’s Hospital for evaluation of recurrent infections. Immune evaluation included a complete blood count (CBC) with differential cell count, serum immunoglobulin levels and specific antibody concentrations (measured at 33 months of age, 15 months after vaccination with diphtheria, tetanus, and acellular pertussis vaccine, and pneumococcal 13-valent vaccine), lymphocyte phenotyping, and mitogen and antigen responses, the results of which were all within normal ranges (Tables 1, 2).
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