Goldenhar syndrome

Clinical History

A 14-year-old boy with multiple cranio-facial and vertebral anomalies and known arrested hydrocephalus presented with a 2-3 week history of daily occipital headaches. There were no features to suggest raised intracranial pressure. Neurological examination and fundoscopy were unremarkable.

Imaging Findings

Non-contrast CT identified gross dilatation of the lateral and third ventricles with a small calibre fourth ventricle, unchanged from a previous examination.
The skull base was demonstrated to be grossly abnormal with findings of basilar invagination and platybasia resulting in stenosis of the foramen magnum.
The right mandibular condyle was noted to be hypoplastic.
No cause was identified to explain the patient's current symptoms.

Review of previous spinal imaging demonstrated C4 hemivertebra and fusion of the C6, C7 and T1 vertebral bodies. Sacral agenesis and dysplastic vertebrae within lumbar spine were also noted.

The patient was unable to undergo further evaluation with MR due to the presence of non-MR safe surgical metalwork within a reconstructed right ear.

Discussion

First described by Dr. Maurice Goldenhar in 1952 [1], Goldenhar syndrome, also known as oculoauricular dysplasia, is a complex congenital condition characterised by a spectrum of craniofacial anomalies which may occur alongside vertebral and occasionally extra-skeletal abnormalities. As yet no cause has been identified with the majority of cases occurring sporadically.

The cardinal features include unilateral auricular mal-development or complete aplasia which may be associated with pre-auricular skin tags and/or hearing loss [2, 3]. Ipsilateral hemifacial microsomia is common, with the mouth on the affected side being drawn towards the ear, and cleft palate may co-exist [2, 3]. Ocular manifestations may include peri-ocular dermoid cysts, unilateral micropthalmia or anopthalmia in severe cases [2, 3]. Vertebral segmentation anomalies, with or without scoliosis, represent the commonest spinal manifestations [4]. Congenital cardiorespiratory, urogenital or neurological malformations occur in a smaller subset of patients. Imaging may involve plain radiographs, echocardiography, renal tract ultrasound or MRI as appropriate.

A routine antenatal ultrasound examination may reveal abnormal amniotic fluid volume or detect some of the rarer complications affecting the aforementioned body systems [5]. Following birth the diagnosis may be suspected on clinical grounds in conjunction with abnormal auditory tests. The diagnosis is confirmed with thin-slice CT and 3-D data reformation of the abnormal craniofacial configuration.

Patients with Goldenhar syndrome have a normal life expectancy with morbidity related to the degree of craniofacial abnormalities. Treatment focuses on optimisation of hearing and vision with reconstructive surgery of the ear and jaw in selected cases [6]. Craniofacial CT with 3-D reconstructions are useful in guiding surgical planning and assessing post-operative intervention.

Goldenhar syndrome is a non-lethal congenital condition encompassing a spectrum of craniofacial anomalies which may be associated with vertebral and extra-skeletal abnormalities.

Differential Diagnosis List

Final Diagnosis

Goldenhar syndrome

URL:	https://eurorad.org/case/12264
DOI:	10.1594/EURORAD/CASE.12264
ISSN:	1563-4086