Congenital vascular malformations in scintigraphic evaluation

Area of Science:

• Vascular Malformations
• Medical Imaging
• Genetics

Background:

• Congenital vascular malformations are non-neoplastic lesions resulting from abnormal vascular development.
• These lesions exhibit normal cellular turnover and do not involve spontaneous regression.
• Familial occurrence suggests a potential genetic component in their etiology.

Observation:

• A 17-year-old female with Parkes Weber syndrome presented with progressive vascular anomalies in limbs, chest wall, and spleen.
• A 12-year-old female had a vascular lesion on her right lower limb, affecting the calcaneus and talus.
• Phleboscintigraphy confirmed normal venous outflow in both patients, despite visible malformations.

Findings:

• Whole-body scintigraphy revealed extensive vascular malformations in both sisters.
• Specific locations included the right limbs, chest wall, spleen, and left foot (medial cuneiform, navicular, talus).
• The imaging identified lesions in the right calcaneus and above the right talocrural joint.

Implications:

• Periodic follow-up is crucial for patients with undiagnosed vascular malformations to detect serious complications.
• Scintigraphic methods are valuable for diagnosing and monitoring the progression of congenital vascular malformations.
• Early detection and monitoring can guide treatment strategies and improve patient outcomes.