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Published on: January 27, 2015
Internal jugular phlebectasia in Menkes disease
David J Price1, Thyyar Ravindranath, Stephen G Kaler
1New York Medical College, Valhalla, NY, USA.
Summary
Pediatric neck masses may indicate genetic connective tissue disorders like Menkes disease. This study highlights internal jugular phlebectasia as a rare, benign manifestation in infants with this copper transport disorder.
Area of Science:
- Medical Genetics
- Pediatric Pathology
- Vascular Biology
Background:
- Pediatric neck masses warrant investigation for underlying genetic connective tissue disorders.
- Menkes disease is an inherited copper transport disorder impacting connective tissue integrity.
- Early diagnosis and treatment of Menkes disease have improved patient outcomes.
Observation:
- Three infants with Menkes disease presented with large, unilateral neck masses between 7 and 17 months of age.
- Imaging studies identified these masses as internal jugular phlebectasia.
- The phlebectasias enlarged with crying or exertion and remained clinically benign.
Findings:
- Internal jugular phlebectasia is a rare venous manifestation in Menkes disease, distinct from commonly reported arterial findings.
- Reduced tensile strength in the carotid sheath, potentially due to low lysyl oxidase activity, may predispose to phlebectasia.
- This suggests a link between copper metabolism, connective tissue strength, and vascular abnormalities.
Implications:
- Recognition of internal jugular phlebectasia as a clinical sign can aid in diagnosing Menkes disease in infants.
- Identifying novel stigmata improves understanding and management of Menkes disease.
- This finding contributes to the broader knowledge of genetic disorders affecting connective tissue and vascular structures.
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