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Gomez-Lopez-Hernandez syndrome.
William Whetsell1, Gaurav Saigal, Savio Godinho
1University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Pediatric Radiology
|April 12, 2006
Summary
Gomez-Lopez-Hernandez syndrome, a rare condition, was identified in an 18-month-old boy. Imaging revealed rhombencephalosynapsis and an unusual azygous anterior cerebral artery, offering insights into this complex disorder.
Area of Science:
- Neuroscience
- Medical Genetics
- Pediatric Neurology
Background:
- Gomez-Lopez-Hernandez syndrome is a rare genetic disorder characterized by specific craniofacial and neurological anomalies.
- Understanding the spectrum of neuroimaging findings is crucial for accurate diagnosis and management.
Observation:
- This report details a case of Gomez-Lopez-Hernandez syndrome in an 18-month-old male child.
- The patient presented with characteristic clinical features requiring detailed neuroimaging evaluation.
Findings:
- Magnetic Resonance (MR) imaging revealed rhombencephalosynapsis, a malformation of the hindbrain, with a solitary dentate nucleus.
- MR angiography demonstrated the presence of an azygous anterior cerebral artery, an uncommon vascular variation.
Implications:
- These findings expand the known neuroimaging spectrum of Gomez-Lopez-Hernandez syndrome.
- The case highlights the importance of advanced imaging techniques in diagnosing rare pediatric neurological disorders and understanding their pathogenesis.