Head and Neck MRI Findings in CHARGE Syndrome

Area of Science:

• Medical Imaging
• Genetics and Genomics
• Pediatric Medicine

Background:

• CHARGE syndrome is a complex genetic disorder characterized by multiple congenital anomalies.
• Imaging plays a crucial role in diagnosing CHARGE syndrome and planning interventions like cochlear implantation.

Purpose of the Study:

• To evaluate the utility of Magnetic Resonance (MR) imaging in identifying structural abnormalities in patients with CHARGE syndrome.
• To document common and novel imaging findings in the head and central nervous system.

Main Methods:

• Retrospective review of MR imaging scans from 10 patients diagnosed with CHARGE syndrome.
• Comprehensive evaluation of structural abnormalities across the auditory, olfactory, facial, skull base, and central nervous systems.

Main Results:

• Frequent findings included semicircular canal dysplasias and olfactory sulci hypoplasia.
• Less common anomalies observed were cleft lip/palate and coloboma.
• Novel findings reported: J-shaped sella, dorsal clivus angulation, and absent/atrophic parotid glands.

Conclusions:

• MR imaging is highly effective for diagnosing and managing CHARGE syndrome.
• The study identified previously undescribed imaging features associated with CHARGE syndrome, enhancing diagnostic capabilities.