Objective: To present a patient with malignant paraganglioma and intestinal fistula accompanying severe anemia by SDHB gene mutation.
Methods: A 29-year-old female with intestinal fistula and severe anemia was admitted again to PUMC Hospital in November 2016.
Results: The patient was admitted to PUMC Hospital with paroxysmal headache, palpitation and profuse sweating in 2012, and the abdominal CT scan showed a lobulated mass(3.7×3.3cm) with obscure boundary located close to the tail of pancreas. Measurement of the urinary catecholamine showed NE 318.86μg/24h(normal:16.69-40.65μg/24h)，E 2.57μg/24h，DA 241.71μg/24h. 131I-MIBG image was shown as the negative but Octrotide receptor image was shown as strong positive for this mass. She was diagnosed suffer from paraganglioma. She has hypertension with Bp 188/110mmHg. After taken phenoxybenzamine therapy and the 5.0×4.0cm size of tumor was removed by laparoscopic surgery in 2013. The immunohistochemical staining shown CgA(+), Syn(+), S-100(+) and Ki-67(index 1%) in her tumor sample. Her blood pressure and urinary catecholamine level return to normal as Bp120/80, NE 28.80→14.99μg/24h，DA236.16→197.06μg/24h，E 2.88→2.14μg/24h after surgery. She presented with melena and iron-deficiency anemia(Hgb70-80g/l) at 24 weeks of pregnancy in June, 2016. CT scan showed a lobulated mass tail of pancreas with obscure boundary to intestinal tract (7.3×8.0cm), MIBG scan and octreotide scan positive. Enteroclysis revealed fistula formed between the mass and duodenal jejunal region. She had a mutation in SDHB gene.
Conclusions: Maignant paraganglioma is very rare disease and hard to treat. Gene testing and long-time follow-up is very important for the pheochromocytoma and paraganglioma patients.
Fig 1 The abdominal CT scan of the patient