Severe Hypertension in a 14-Year-Old Boy

Inas H. Thomas, MD


May 31, 2017

Once it has been determined biochemically that a patient has a catecholamine-producing tumor, imaging studies are needed to localize the tumor. Either CT or MRI is appropriate to initially screen the abdomen and pelvis to localize the tumor. If it is not present in the adrenal gland, further imaging of the chest, neck, and brain is warranted.[1] Further scanning with 123I-labeled metaiodobenzylguanidine scan can localize the tumor and also identify whether it has metastasized.[1,7] An example is shown in Figure 3.

Figure 3.

The other choices listed above are not consistent with this patient's presentation. Although meningitis should be considered in an individual with a severe headache, this child is not febrile and does not have nuchal rigidity. Some of his symptoms, such as headache, diarrhea, and inattention, could be due to hyperthyroidism, but his thyroid function test results are normal.

Patients with Addison disease typically present with hypotension and hyperpigmentation. Electrolyte disturbances are present in Addison disease because aldosterone function is usually affected. The patient's cortisol level at this time of the day is not decreased, which makes Addison disease unlikely.

Rarely, primary aldosteronism or renin-secreting adrenocortical adenomas may produce marked or accelerated hypertension and headache. Often in these settings, plasma potassium is low (hypocalcemia). Hypokalemia may be seen in patients with pheochromocytoma, pancreatic islet tumors, and clear renal cell carcinoma and renal cysts.[1] Current recommendations include screening for pheochromocytomas in children as early as age 2 years if the family history is positive for von Hippel-Lindau (VHL) syndrome.[8]

Multiple endocrine neoplasia (MEN) should be considered, but only in individuals with type 2. Individuals with MEN type 1 are not at risk for pheochromocytoma.[9] MEN 2A is an autosomal dominant disorder that includes medullary thyroid carcinoma (in 100% of individuals), pheochromocytoma (in 50%), and hyperparathyroidism (in 20%-30%).[1] Individuals with MEN 2B do not have hyperparathyroidism but have specific physical findings, such as mucosal ganglioneuromas and a marfanoid appearance. In both MEN 2A and 2B, pheochromocytomas are usually benign and may present bilaterally.[2,9]

Neurofibromatosis is an autosomal dominant disorder characterized by several physical findings, such as more than six café-au-lait macules, more than two cutaneous/subcutaneous neurofibromas, inguinal or axillary freckling, and more than two Lisch nodules.[2] Pheochromocytomas are relatively rare in individuals with neurofibromatosis, although they are more likely to be malignant.[2] Because the patient in this case has no dysmorphic features, including birthmarks, this diagnosis is unlikely.

Sudden death due to a pheochromocytoma has been documented in Turner syndrome, but this is uncommon.[10]

Familial PGL syndromes are associated with PGLs; however, pheochromocytomas can also occur. PGL1, PGL3, and PGL4 arise from germline mutations in the subunit of the mitochondrial complex II succinate dehydrogenase enzyme gene. Most tumors are found in the head and neck, although patients with PGL4 may have paragangliomas in the abdomen.[2]


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