Diagnosis at dusk: malignant hypertension and phaeochromocytoma in a 6-year-old girl.
Phaeochromocytoma is a rare catecholamine-secreting tumour that may arise at any age, but is particularly unusual in childhood. The case of a 6-year-old girl who presented with a prolonged history of general malaise, headaches and abdominal pain is reported. On examination, she was noted to have malignant hypertension. Subsequent imaging of the abdomen demonstrated a left adrenal mass, with the diagnosis of phaeochromocytoma being confirmed by serial raised urinary metanephrines. Sympathetic blockade was established prior to definitive surgical treatment, resulting in complete resolution of the patient's symptoms and hypertension. Genetic screening of the family has since identified a previously undocumented missense mutation in the patient's VHL gene. The case raises the importance of routine measurement of blood pressure in all paediatric patients regardless of age, presentation or other factors.
Corcoran
John
J
Department of Paediatrics, John Radcliffe Hospital, Oxford, UK.
Bird
Chris
C
Side
Lucy
L
Lakhoo
Kokila
K
Ryan
Fiona
F
D000310:Adrenal Gland Neoplasms / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D004635:Emergency Medicine / Q000379:methods; D005260:Female; D006801:Humans; D006974:Hypertension, Malignant / Q000175:diagnosis* / Q000209:etiology* / Q000628:therapy; D020125:Mutation, Missense; D010673:Pheochromocytoma / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D016896:Treatment Outcome; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics
D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human