第十七屆 眼、耳、脊椎發育異常徵候群孩童之早期療育及追蹤：個案報告

眼、耳、脊椎發育異常徵候群孩童之早期療育及追蹤：個案報告
Early Intervention and Follow-up of Children with Goldenhar syndrome: a Case Report

林映汝、李念白、鄞怡珊、陳怡君*
Ying-Ju Lin, Nien-Pai Lee, Yi-Shan Yin, I-Chun Chen

東元綜合醫院復健科
Department of Physical Medicine and Rehabilitation, Ton-Yen General Hospital

Background and Purpose: Goldenhar syndrome (also known as Oculo-Auriculo-Vertebral (OAV) syndrome) is a rare congenital defect characterized by unilateral deformity of the external ear, small ipsilateral half of the face, and vertebral anomalies. It affects between 1/3500 to 1/26000 live births, with a male:female ratio of 3:2. Goldenhar syndrome is typically sporadic, and the cause of Goldenhar syndrome is largely unknown. It is thought to be multifactorial, but there may be a genetic component, which would account for certain familial patterns. It has been proposed that Goldenhar syndrome may result from diminished unilateral embryonic vascular supply to the first and second branchial arches when primary blood supply changes from the stapedial artery to the external carotid artery. Facial anomalies are characteristic of the syndrome and include a range of unilateral facial abnormalities, including cleft lip/palate, ear deformities, and ocular abnormalities. Coloboma of the upper eyelid and epibulbar dermoids are frequent. Vertebral anomalies, especially of the cervical and upper thoracic regions, are common, and hydrosyrigomyelia may occur as well. Cardiac defects include tetralogy of Fallot, double-outlet right ventricle, ventricular septal defect, and total anomalous pulmonary venous return. Microphthalmia is often associated with mental retardation and neurodevelopmental delay.

Methods: This case is a two-year and eleven -month old boy, who was born in Ton-Yen General Hospital in August 2013. The birth was full term with 37 weeks of gestational age, and the birth body weight was 2825 grams. The mother of this child received regular prenatal examinations, including high-level ultrasounds that revealed no abnormalities. The mother did not have gestational diabetic or hypertension history. However, when the infant was born, respiratory distress and significant facial asymmetry (right hemifacial microsomia, bilateral preauricular tags, right external auditory canal atresia, and macrostomia) were noted. Under the diagnosis of Goldenhar syndrome, consultations with the associated departments were carried out. Atrial septal defect (ASD), right ptosis, hypospadias, and right hearing impairment with 60dB were found. When he was 7 months old in March 2014, this case was brought to our department for assessment and early intervention due to high risk of developmental delay (DD). Regular follow-ups were conducted for reassessment in 2015 and 2016.

Results: An early intervention program was executed: physical therapy (PT) for basic posture and motor facilitation from April 2014 to March 2015, muscle strengthening and balance training since April 2016, occupational therapy (OT) for hand function and eye-hand coordination training from January to May 2015, sensory integration, social skill, and dexterity training since March 2016, speech therapy (ST) for auditory comprehension and spontaneous verbal expression training since May 2016. The result of assessment showed motor DD and speech borderline DD in 2014, speech DD in 2015, and motor and speech borderline DD in 2016. Although the outcome of functional progression measured by developmental quotients was stationary, the total score of parents’ perception of improvement in caring skill revealed satisfied.

Conclusion: Goldenhar syndrome is a rare congenital defect with high risk of DD, and early intervention is essential and effective.

Keywords: Goldenhar syndrome, developmental delay, early intervention