LEOPARD Syndrome Workup

Updated: Apr 12, 2021
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: William D James, MD  more...
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Workup

Laboratory Studies

In some patients with endocrine abnormalities, low levels of follicle-stimulating hormone, luteinizing hormone, and thyrotropin and elevated levels of 17-hydroxy and 17-ketosteroids have been revealed.

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Imaging Studies

CT scanning or MRI of the head may reveal brain atrophy.

Skeletal radiography is indicated for detection of skeletal malformations or for bone age assessment.

Echocardiography should be done for visualization of structural heart abnormalities (eg, pulmonary valve stenosis, obstructive cardiomyopathy, myxomas).

Assessment of the genitourinary system may require abdominal ultrasonography or urographic examination.

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Other Tests

Perform electrocardiography to exclude conduction abnormalities, which are reported in about one third of the patients. The most common electrocardiographic changes are left axis deviation, prolonged PR intervals, and right bundle branch block. Due to possible arrhythmia, ECG is especially mandatory before all planned surgical interventions.

Due to possible arrhythmia, ECG is mandatory before all planned surgical interventions.

EEG is recommended for patients with seizures.

Sensorineural deafness may be detected by audiography or auditory evoked potentials.

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Histologic Findings

Biopsy of a lentigo reveals an increased number of melanocytes per unit skin area and prominent rete ridges. Electron microscopic examination reveals large accumulations of melanosomes within the Langerhans cells and giant melanosomes. The latter were reported both in normal and pigmented skin in patients with the LEOPARD syndrome; they are also found in patients with neurofibromatosis and nevus spilus.

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