Date Published: July 2, 2012
Publisher: BioMed Central
Author(s): Serge De Golovine, Shuya Wu, Jill V Hunter, William T Shearer.
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.
Goldenhar syndrome (GS), also known as hemifacial microsomia, oculo-auriculo-vertebral anomaly, dysplasia or spectrum, 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, pre-auricular skin tags, epibulbar dermoids, and vertebral malformations (Figure 1). Other skeletal abnormalities and ocular, cardiac and renal anomalies have been described [2-4]. This condition has a prevalence ranging from 1:3500 to 1:7000 live births with a male to female ratio of 3:2 [2,5]. To our knowledge, there have been no case reports of GS in association with immune deficiencies.
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. According to the mother, the patient’s infections were diagnosed at different private clinics by either pediatric or ear, nose, and throat physicians with an average of 6 bouts of sinusitis and otitis media per year all requiring antibiotics. The presence of otitis media and sinusitis was diagnosed on the basis of fever, ear pain, and fetid greenish discharge from the nostrils of the child. During the disease free intervals, the patient had clear nasal discharge.
A 7-year-old female child who was known to have GS and bilateral sensorineural hearing loss was referred to the Allergy and Immunology Clinic at Texas Children’s Hospital for evaluation of recurrent infections. She had an episode of bacterial meningitis 2 months before presentation. At that time she was initially taken to an outside hospital due to a 1 day history of vomiting, fever of 38.9° C, and lethargy. With the suspicion of bacterial meningitis, she was empirically treated with vancomycin, ceftriaxone, and decadron 3 hours before a lumbar puncture revealed purulent cerebral spinal fluid (CSF). CSF analysis was consistent with bacterial meningitis, showing a cloudy fluid with 2,815 white blood cells/mL (WBC) including 84% segmented cells 9% lymphocytes, 7% monocytes, 15 red blood cells/μL (RBC), a glucose of less than 5 mg/dL, and a protein of 505 mg/dL. Analysis of the CSF proved negative for pneumococcal and meningococcal antigens, the CSF gram stain did not reveal organisms, and the culture remained negative. A CT scan of the head was also performed and was reported as normal.
In summary, these two case presentations illustrate how a genetic deviation of the middle ear cleft can cause recurrent infections of the middle ear and adjacent sinuses, even meninges, leading to a greatly reduced quality of life for the child and parents. The lack of proper drainage of the middle ear and sinuses are most likely the cause of repetitive infections despite normal immune responses. Surgery and trauma that produce anatomical dislocations are well accepted causes of secondary immunodeficiency leading into acute and chronic infection due to the interruption of normal flow of body secretions. Similar in principle, we believe, is the lack of upper respiratory secretion clearance in these children with Goldenhar syndrome.
Consent to publish photographs, scan images, and medical information were given by the parents on behalf of their children.
GS, Goldenhar Syndrome.
The authors declare that they have no competing interests.
SDG and SW gathered clinical information and wrote the manuscript; JVH reviewed the CT scans of the middle ear left and adjacent sinuses; and WTS supervised the activities of SDG and SW and assisted with writing and revising the manuscript. All authors read and approved the final manuscript.
Dr. Serge DeGolovine is senior resident in the allergy and immunology training program at Baylor College of Medicine in Houston, TX, USA; Dr. Shuya Wu is senior resident in the pediatric training program at Driscoll Children’s Hospital in Corpus Christi, TX, USA; Dr. Jill V. Hunter is professor of pediatric radiology at Baylor College of Medicine, Houston, TX, USA; and Dr. William T. Shearer is professor of pediatrics and immunology and director of the allergy and immunology training program at Baylor College of Medicine, Houston, TX, USA.