Female patient, 29 years old, from Calama.
His history included retinal thrombosis of the left eye 2 months prior to the current condition and a mother operated on for pheochromocytoma at 26 years of age.
A 10-year history of paroxysmal crises of headache, nausea, sweating, episodes associated with severe hypertension.
She had been treated with beta blockers and angiotensin converting enzyme inhibitors for 6 years.
Due to an increase in seizure frequency, the patient was hospitalized, with emphasis on physical examination: blood pressure 158/111 mmHg, pulse 93 per minute, normal cardiopulmonary examination, abdomen blunt, depressible, without palpable masses.
Blood creatinine 0.75 mg/dL, calcemia 10.3 mg/dL, calcium lactate 7.514 mg/dL, TSH 0.45 uUI/mL (0.4-4.0), plasmatic T0.816 pg/dL (0.91-16 pg/dL), plasma creatinine
The measurements of these hormones were performed under treatment with amikacin, which has minimal influence on the renin-angiotensin-aldosterone axis and does not affect the measurement of urinary metanephrines2,3.
Thyroid ultrasound showed bilateral thyroid nodules of colloid aspect, the largest in the right lobe of 10 mm. Computed tomography (CT) of the abdomen and renal angio-CT angiography left renal vena cava of 3 cm:
Eye fundus and magnetic resonance imaging (MRI) of the brain and neck ruled out the presence of retinal hemangiomas and cerebral hemangioblastomas.
Based on the absence of clinical elements suggestive of neurofibromatosis type 1 (NF1), multiple endocrine neoplasia type 2 (MEN 2) and von Hippel-Lindau disease (FHL mass), the presence of a hereditary extrarenal syndrome.
The genetic study of the patient, carried out in the laboratory of Prof. Hartmut P.H. Neumannp (unitity of daughter 56 Freiburg, Germany) showed a mutation of the SDCTdel Exhydrogenase gene (DSHBY 300).
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Surgery was performed, resecting 3 retroperitoneal masses corresponding in location and size with abdominal CT.
The histological study reported paragangliomas.
Urinary normetanephrines were normalized and magnetic resonance imaging of the head, neck, abdomen and pelvis, as well as CT scan of the chest were normal.
