[Hydrocephalus and the Goldenhar syndrome]

Area of Science:

• Medical Genetics
• Pediatric Neurology
• Developmental Biology

Background:

• Goldenhar syndrome, also known as oculo-auriculo-vertebral spectrum, is a rare congenital disorder characterized by craniofacial abnormalities, vertebral defects, and sometimes limb malformations.
• The etiology of Goldenhar syndrome is complex and multifactorial, involving genetic and environmental influences during embryonic development.
• While various clinical manifestations are documented, neurological complications are less commonly reported and often focus on structural brain anomalies.

Observation:

• This report details two female infants diagnosed with Goldenhar syndrome.
• The first infant presented with aqueductal stenosis, a blockage in the cerebral aqueduct.
• The second infant experienced recurrent episodes of pain and strain related to the anterior fontanel, suggestive of increased intracranial pressure.

Findings:

• The observed cases describe previously undocumented neurological complications in Goldenhar syndrome.
• Specifically, aqueductal stenosis, hydrocephalus, and intracranial hypertension have not been previously associated with this syndrome.
• These findings highlight the potential for a broader range of neurological involvement in affected individuals.

Implications:

• The identification of aqueductal stenosis and potential intracranial hypertension broadens the diagnostic and management considerations for Goldenhar syndrome.
• Early recognition and monitoring for these neurological complications are crucial for timely intervention and improved outcomes in affected infants.
• Further research is warranted to elucidate the underlying mechanisms connecting Goldenhar syndrome to these specific neurological presentations.