Pheochromocytoma in a Twelve-Year-Old Girl with SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome

Abstract

A twelve-year-old girl presented with a history of several weeks of worsening headaches accompanied by flushing and diaphoresis. The discovery of markedly elevated blood pressure and tachycardia led the child's pediatrician to consider the diagnosis of a catecholamine-secreting tumor, and an abdominal CT scan confirmed the presence of a pheochromocytoma. The patient was found to have a mutation in the succinyl dehydrogenase B (SDHB) gene, which is causative for SDHB-related hereditary paraganglioma-pheochromocytoma syndrome. Herein, we describe her presentation and medical management and discuss the clinical implications of SDHB deficiency.

Figure 1

Radiologic imaging of the patient at presentation. (a, b, c) Computed tomography images showing a right-sided contrast-enhancing suprarenal mass (white arrows) displacing both the kidney and the liver. Note calcifications in the mass (arrow; image (c)), which is typical for pheochromocytoma. (d) MIBG nuclear scan showing uptake by the adrenal mass (arrow) and no evidence of other sites of disease.

Figure 2

Sympathetic blockade and vital signs. Clinical data showing heart rate, systolic blood pressure, and diastolic blood pressure from admission until the time of tumor resection. Also shown are anticatecholamine medications and their doses over time. Note the progressive decreases in hypertension and tachycardia over the patient's hospital course.

Figure 3

Pathologic images of resected tumor. (a, b) H & E-stained sections of the tumor showing tumor cells with abundant eosinophilic cytoplasm arranged in a nested and trabecular pattern and surrounded by fibrovascular stroma. (c) Chromogranin A staining demonstrating strong positivity of tumor cells. (d) Ki67 (MIB-1) immunostaining confirmed a high proliferation index (>10%) of the tumor cell population.