Pheochromocytomas are tumours arising from chromaffin cells of the adrenal medulla. These tumours are rare in children and account for 0.5–2.0% of all causes of hypertension in children.1
The presentation of pheochromocytoma in children has some distinct differences from its presentation in adults. Children tend to have a higher incidence of bilateral lesions (20–30%) and extra-adrenal lesions (20%).
Diagnosis of pheochromocytoma is important because the hypertension is usually curable by eradication of the tumour.2
Childhood adrenal tumours presenting with hypertension show an atypical course and a variable presentation. Reversal of hypertension by surgery is crucial. Hypertension appears to be uniformly present and is sustained in 80–90% of affected children at the time of diagnosis. Occasionally, children with sustained hypertension also have paroxysmal episodes. Wide fluctuations in blood pressure are characteristic, and pronounced increases may be followed by hypotension and syncope. Confirmation of hypertension is needed within 48 h, because of the paroxysmal episodes. However, 20% of children will remain asymptomatic.1
Cerebral ischaemia is a rare manifestation of pheochromocytoma. Van et al
described two Taiwanese children with pheochromocytoma presenting as stroke with cerebral infarction and intracranial haemorrhage.2
Imaging techniques are important to detect adrenal tumours, and ultrasonography is a useful modality in localising the lesions in the majority of patients.3,4
Rakototiana et al
reported the case of a 6-year-old boy whose pheochromocytoma was revealed by cerebral ischaemia as a consequence of acute cardiac failure.5
In our case, the ischaemia was in the territory supplied by the left middle cerebral artery. It resulted from vasospasm secondary to the hypertension or directly due to the high concentrations of catecholamines. Indeed, our patient had transitional electric disorders on her ECG with total distension of the coronary artery; this may also explain the vasospasm which remains a serious and potentially lethal cardiovascular complication.
Biochemical presentation of excessive catecholamine production is an essential step in the diagnosis of pheochromocytoma. Traditional biochemical tests include measurements of urinary and plasma catecholamine, urinary metanephrines (normetanephrine and metanephrine), and urinary vanillylmandelic acid (VMA). Measurements of plasma-free metanephrines (normetanephrine and metanephrine) represent a more recently available test.6
Chronic catecholamine excess in pheochromocytoma is accompanied by an increase in inflammation markers. Subjects with pheochromocytoma show significantly higher concentrations of leucocytes and neutrophils with positive proteins of the acute phase response (CRP, fibrinogen), as occurred in our case.
Among the atypical forms of phaeochromocytoma, the isolated inflammatory form is rare and difficult to diagnose clinically.
Imaging techniques such as CT or MRI and functional ligands such as 123I-MIBG are used to localise biochemically proven tumours. After the use of appropriate preoperative treatment to block the effects of secreted catecholamine, laparoscopic tumour removal is the preferred procedure. If removal of pheochromocytoma is timely, the prognosis is excellent. However, the prognosis is poor in patients with metastases, which occur particularly in patients with large, extra-adrenal tumours.
In our case, the clinical diagnosis of pheochromocytoma was proven by highly elevated urinary catecholamine, and confirmed histologically after the operation. The successful removal of the tumour led to the almost complete recovery of the neurological deficiencies.
- It is of vital importance to be aware of this atypical presentation of pheochromocytoma.
- The diagnosis of pheochromocytoma should be suspected in patients with focal cerebral symptoms, particularly in the presence of intermittent hypertension or other paroxysmal symptoms suggestive of pheochromocytoma.