Leopard syndrome other imaging findings
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mohamed Moubarak, M.D. [2]
Overview
Different imaging studies like X-rays, CT scanning, and Echocardiography have been used to detect abnormalities of LEOPARD syndrome.
Imaging Studies
- CT scanning or MRI - Brain atrophy may be revealed
- Skeletal radiography - Detection of skeletal malformation and bone age assessment.
- Echocardiography - Indicated for visualization of structural heart abnormalities, hypertrophic obstructive cardiomyopathy.[1]
- Electrocardiography - Excludes conduction abnormalities like axis deviation, prolonged PR intervals, and right bundle branch block, ST-segment abnormalities, and T-wave inversion.[1]
- Ultrasonography or Urographic examination - For assessment of the genitourinary system.
- Audiography or Auditory evoked potentials - For detection of sensorineural deafness.
References
- ↑ 1.0 1.1 Kim J, Kim MR, Kim HJ, Lee KA, Lee MG (2011). "LEOPARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD". Ann Dermatol. 23 (2): 232–5. doi:10.5021/ad.2011.23.2.232. PMC 3130872. PMID 21747628.