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      Phaeochromocytoma presenting with polyuria: an uncommon presentation of a rare tumour

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          Summary

          Children rarely present with phaeochromocytoma. Their presentation differs from that of adults. The classic triad of sweating, headache and palpitation may not always present in children with phaeochromocytoma. In this study, we present a 6-year-old girl who came to us with polyuria and polydipsia for evaluation of suspected diabetes insipidus. She gave a clear history of increased sweating in the recent past. On clinical examination, she was noted to have high blood pressure. Subsequent investigations revealed a phaeochromocytoma. Her polyuria and hypertension resolved immediately after the surgery. We did not have the facilities to arrange for genetic tests; however, the patient and the family members are under follow-up for other associated conditions.

          Learning points

          • Polyuria and polydipsia are rare symptoms of phaeochromocytoma.

          • Complete physical examination prevented unnecessary investigations for polyuria and led to a correct diagnosis.

          • Classic features are not always necessary for diagnostic evaluation of rare diseases.

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          Most cited references12

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          Characteristics of pheochromocytoma in a 4- to 20-year-old population.

          Hypertension in children and adolescents has become a major health problem recently recognized, and in a significant number of patients it is due to an endocrine tumor. The aim of this study was to establish the characteristics of pheochromocytoma in a population of 58 patients between 4 and 20 years of age studied at our Center. They represented a 23% of the total population of 255 pheochromocytoma patients studied. In the younger group (under 20 years of age), there was a marked predominance of severe sustained hypertension (93%), only 7% presented paroxysmal hypertension and none of them was normotensive. The youngsters studied showed a higher incidence of bilateral adrenal pheochromocytoma (34%) and extra-adrenal pheochromocytoma (22%). Malignancy was found in 12% of these patients. In addition, the incidence of familial pheochromocytoma was elevated in these patients (39%). Surprisingly, in contrast with the adult population where the most frequent familial pheochromocytomas were multiple endocrine neoplasia (MEN) type 2A (15%), the younger population showed a higher predominance of von Hippel-Lindau (VHL) (28%) and lower incidence of MEN 2A, MEN 2B, neurofibromatosis (NF), and succinate dehydrogenase subunit B (SDHB). In the VHL group, only two patients belonging to one family, showed the R167W mutation, while the others showed novel mutations in conserved amino acids. It may be speculated that the high incidence of VHL in youngsters may account for the biochemical and clinical features they usually present.
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            Phaeochromocytoma in children.

            Phaeochromocytoma is a rare clinical entity in children. Contrary to traditional teaching, which suggested that 10% of phaeochromocytomas are "familial", a germline mutation has been identified in up to 59% (27/48) of apparently sporadic phaeochromocytomas presenting at 18 years or younger and in 70% of those presenting before 10 years of age. The inherited predisposition may be attributable to a germline mutation in the Von Hippel-Lindau gene, the genes encoding the subunits B and D of succinate dehydrogenase, the RET proto-oncogene predisposing to multiple endocrine neoplasia type 2, or the neurofibromatosis type 1 gene. Of these, the Von Hippel-Lindau gene is the most commonly mutated gene in children presenting with a phaeochromocytoma. Genetic counselling is recommended before gene testing and investigation of the wider family. This review provides guidance on the aetiology, investigation, management, histopathology, genetics and follow-up of children with a phaeochromocytoma.
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              Alpha blockade in preoperative preparation of patients with pheochromocytomas.

              Preoperative preparation in pheochromocytoma is usually performed by alpha-adrenergic blockers. We retrospectively reviewed the efficiency of phenoxybenzamine, prazosin, and doxazosin in preoperative preparation. Phenoxybenzamine was used for preoperative preparation of 21 pheochromocytoma patients, prazosin was used in 11 patients, and doxazosin was used in 17 patients. Intraoperative and early postoperative blood pressure records and postoperative volume replacement records were reviewed. Intraoperative hypertension occurred in 17 patients in the phenoxybenzamine group (81%), eight patients in the prazosin group (73%), and 14 patients in the doxazosin group (82%). There was no statistical difference among the groups (P > 0.05). There was also no significant difference between postoperative blood pressure measurements and the operative and postoperative volume replacements. We have found that there were no significant difference in the operative and postoperative blood pressure and plasma volume control among the three groups. We conclude that pheochromocytoma surgery is safe with any of these preoperative medications.

                Author and article information

                Journal
                Endocrinol Diabetes Metab Case Rep
                Endocrinol Diabetes Metab Case Rep
                edm
                EDM Case Reports
                Endocrinology, Diabetes & Metabolism Case Reports
                Bioscientifica Ltd (Bristol )
                2052-0573
                1 October 2014
                2014
                : 2014
                : 140060
                Affiliations
                [1 ]Lady Ridgeway Hospital , Colombo, Sri Lanka
                [2 ]General Hospital , Matara, Sri Lanka
                [3 ]Department of Paediatrics, Faculty of Medicine , University of Colombo, Colombo, Sri Lanka
                Author notes
                Correspondence should be addressed to N Atapattu Email: navodaa@ 123456gmail.com
                Article
                EDM140060
                10.1530/EDM-14-0060
                4197766
                27fa8391-a4cf-4a52-be50-59d3a54627f6
                © 2014 The authors

                This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported License.

                History
                : 8 September 2014
                : 19 September 2014
                Categories
                Unique/Unexpected Symptoms or Presentations of a Disease

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