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Jai Madhok Department of Anesthesiology, Perioperative and Pain Medicine

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Amy Kloosterboer Department of Anesthesiology, Perioperative and Pain Medicine

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Chitra Venkatasubramanian Department of Neurology & Neurological Sciences, Stanford University Medical Center, Stanford, California, USA

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Frederick G Mihm Department of Anesthesiology, Perioperative and Pain Medicine

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Summary

We report the case of a 76-year-old male with a remote history of papillary thyroid cancer who developed severe paroxysmal headaches in the setting of episodic hypertension. Brain imaging revealed multiple lesions, initially of inconclusive etiology, but suspicious for metastatic foci. A search for the primary malignancy revealed an adrenal tumor, and biochemical testing confirmed the diagnosis of a norepinephrine-secreting pheochromocytoma. Serial imaging demonstrated multiple cerebral infarctions of varying ages, evidence of vessel narrowing and irregularities in the anterior and posterior circulations, and hypoperfusion in watershed areas. An exhaustive work-up for other etiologies of stroke including thromboembolic causes or vasculitis was unremarkable. There was resolution of symptoms, absence of new infarctions, and improvement in vessel caliber after adequate alpha-adrenergic receptor blockade for the management of pheochromocytoma. This clinicoradiologic constellation of findings suggested that the etiology of the multiple infarctions was reversible cerebral vasoconstriction syndrome (RCVS). Pheochromocytoma remains a poorly recognized cause of RCVS. Unexplained multifocal cerebral infarctions in the setting of severe hypertension should prompt the consideration of a vasoactive tumor as the driver of cerebrovascular dysfunction. A missed or delayed diagnosis has the potential for serious neurologic morbidity for an otherwise treatable condition.

Learning points:

  • The constellation of multifocal watershed cerebral infarctions of uncertain etiology in a patient with malignant hypertension should trigger the consideration of undiagnosed catecholamine secreting tumors, such as pheochromocytomas and paragangliomas.

  • Reversible cerebral vasoconstriction syndrome is a serious but reversible cerebrovascular manifestation of pheochromocytomas that may lead to strokes (ischemic and hemorrhagic), seizures, and cerebral edema.

  • Alpha-adrenergic receptor blockade can reverse cerebral vasoconstriction and prevent further cerebral ischemia and infarctions.

  • Early diagnosis of catecholamine secreting tumors has the potential for reducing neurologic morbidity and mortality in patients presenting with cerebrovascular complications.

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Aisha A Tepede Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Disease (NIDDK)

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James Welch Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Disease (NIDDK)

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Maya Lee Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Disease (NIDDK)

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Adel Mandl Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Disease (NIDDK)

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Sunita K Agarwal Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Disease (NIDDK)

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Naris Nilubol National Cancer Institute (NCI), National Institutes of Health, Bethesda, Maryland, USA

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Dhaval Patel National Cancer Institute (NCI), National Institutes of Health, Bethesda, Maryland, USA

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Craig Cochran Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Disease (NIDDK)

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William F Simonds Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Disease (NIDDK)

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Lee S Weinstein Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Disease (NIDDK)

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Abhishek Jha Eunice Kennedy Shriver National Institute of Child Health and Development (NICHD), National Institutes of Health, Bethesda, Maryland, USA

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Corina Millo Clinical Center PET Department (CC PET), National Institutes of Health, Bethesda, Maryland, USA

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Karel Pacak Eunice Kennedy Shriver National Institute of Child Health and Development (NICHD), National Institutes of Health, Bethesda, Maryland, USA

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Jenny E Blau Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Disease (NIDDK)

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Summary

Pheochromocytoma (PHEO) in multiple endocrine neoplasia type 1 (MEN1) is extremely rare. The incidence is reported as less than 2%. We report a case of a 76-year-old male with familial MEN1 who was found to have unilateral PHEO. Although the patient was normotensive and asymptomatic, routine screening imaging with CT demonstrated bilateral adrenal masses. The left adrenal mass grew from 2.5 to 3.9 cm over 4 years with attenuation values of 9 Hounsfield units (HU) pre-contrast and 15 HU post-contrast washout. Laboratory evaluation demonstrated an adrenergic biochemical phenotype. Both 18F-fluorodeoxyglucose (18F-FDG) PET/CT and 123I-metaiodobenzylguanidine (123I-mIBG) scintigraphy demonstrated bilateral adrenal uptake. In contrast, 18F-fluorodihydroxyphenylalanine (18F-FDOPA) PET/CT demonstrated unilateral left adrenal uptake (28.7 standardized uptake value (SUV)) and physiologic right adrenal uptake. The patient underwent an uneventful left adrenalectomy with pathology consistent for PHEO. Post-operatively, he had biochemical normalization. A review of the literature suggests that adrenal tumors >2 cm may be at higher risk for pheochromocytoma in patients with MEN1. Despite a lack of symptoms related to catecholamine excess, enlarging adrenal nodules should be biochemically screened for PHEO. 18F-FDOPA PET/CT may be beneficial for localization in these patients.

Learning points:

  • 18F-FDOPA PET/CT is a beneficial imaging modality for identifying pheochromocytoma in MEN1 patients.

  • Adrenal adenomas should undergo routine biochemical workup for PHEO in MEN1 and can have serious peri-operative complications if not recognized, given that MEN1 patients undergo frequent surgical interventions.

  • MEN1 is implicated in the tumorigenesis of PHEO in this patient.

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Eka Melson Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK
University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK

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Sidra Amir University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK

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Lisa Shepherd Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK
University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK

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Samina Kauser University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK

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Bethan Freestone University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK

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Punith Kempegowda University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK

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Summary

Although pheochromocytoma classically presents with headaches, palpitations and paroxysmal hypertension, atypical presentations such as cardiomyopathy, stroke and subarachnoid haemorrhage have been infrequently documented. We present in this case report, an uncommon presentation of pheochromocytoma with myocardial infarction with normal coronary arteries (MINOCA). A 79-year-old woman presented with central crushing chest pain radiating to left arm associated with headache, palpitations, sweating and difficulty in breathing. For 2 years, she experienced brief episodes of headache, tinnitus, dizziness, palpitations, and sweating that spontaneously resolved. Clinical examination was unremarkable except for high blood pressure (210/105 mmHg). Her electrocardiogram showed T wave inversions from V1 to V6 and elevated troponins (774 ng/L at baseline and 932 ng/L 3 h from baseline (normal <16 ng/L) in keeping with a diagnosis of non-ST elevated myocardial infarction. Coronary angiography showed normal coronary arteries. Patient was hence treated as myocardial infarction with normal coronaries (MINOCA). Despite appropriate treatment for MINOCA, she continued to experience episodic headaches, palpitations, dizziness and erratic blood pressures (particularly severe hypertension shortly after beta-blocker administration). Further investigations revealed raised urine noradrenaline of 4724 nmol/24 h (<554 nmol/24 h) and urine adrenaline of 92863 nmol/24 h (<77 nmol/24 h). Computerised tomography demonstrated a well-defined rounded mass in right adrenal gland morphological of pheochromocytoma. She underwent laparoscopic right adrenalectomy with histology confirming pheochromocytoma. This case highlights the importance of thorough investigation for the underlying cause for MINOCA. In patients with unexplained erratic blood pressure control, pheochromocytoma should be considered as a differential diagnosis.

Learning points:

  • Pheochromocytoma is rare tumour that often presents with non-specific symptoms.

  • It is important to investigate underlying cause of MINOCA.

  • Thorough history is the key to diagnosis.

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Natasha Shrikrishnapalasuriyar Department of Diabetes and Endocrinology, Royal Glamorgan Hospital, Llantrisant, UK

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Mirena Noyvirt Department of Diabetes and Endocrinology, Royal Glamorgan Hospital, Llantrisant, UK

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Philip Evans Department of Diabetes and Endocrinology, Royal Glamorgan Hospital, Llantrisant, UK

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Bethan Gibson Department of Intensive Care, Royal Glamorgan Hospital, Llantrisant, UK

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Elin Foden Department of Intensive Care, Royal Glamorgan Hospital, Llantrisant, UK

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Atul Kalhan Department of Diabetes and Endocrinology, Royal Glamorgan Hospital, Llantrisant, UK

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A 54-year-old woman was admitted to hospital with a presumed allergic reaction to a single dose of amoxicillin given for a suspected upper respiratory tract infection. She complained of chest tightness although there was no wheeze or stridor. On examination, she was pyrexial, tachycardic, hypertensive and had a diffuse mottled rash on her lower limbs. Her initial investigations showed raised inflammatory markers. She was treated in the intensive care for a presumed anaphylactic reaction with an underlying sepsis. Further investigations including CT head and CSF examination were unremarkable; however, a CT abdomen showed a 10 cm heterogeneous right adrenal mass. Based on review by the endocrine team, a diagnosis of pheochromocytoma crisis was made, which was subsequently confirmed on 24-h urinary metanephrine measurement. An emergency adrenalectomy was considered although she was deemed unfit for surgery. Despite intensive medical management, her conditioned deteriorated and she died secondary to multi-organ failure induced by pheochromocytoma crisis.

Learning points:

  • Pheochromocytoma have relatively higher prevalence in autopsy series (0.05–1%) suggestive of a diagnosis, which is often missed.

  • Pheochromocytoma crisis is an endocrine emergency characterized by hemodynamic instability induced by surge of catecholamines often precipitated by trauma and medications (β blockers, general anesthetic agents, ephedrine and steroids).

  • Pheochromocytoma crisis can mimic acute coronary syndrome, cardiogenic or septic shock.

  • Livedo reticularis can be a rare although significant cutaneous marker of underlying pheochromocytoma crisis.

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Catherine Alguire Division of Endocrinology, Department of Medicine and Research Center (CRCHUM), Centre hospitalier de l’Université de Montréal, Montreal, Québec, Canada

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Jessica Chbat Division of Endocrinology, Department of Medicine and Research Center (CRCHUM), Centre hospitalier de l’Université de Montréal, Montreal, Québec, Canada

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Isabelle Forest Department of Psychiatry, Centre hospitalier Pierre-Le Gardeur, Terrebonne, Québec, Canada

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Ariane Godbout Division of Endocrinology, Department of Medicine and Research Center (CRCHUM), Centre hospitalier de l’Université de Montréal, Montreal, Québec, Canada

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Isabelle Bourdeau Division of Endocrinology, Department of Medicine and Research Center (CRCHUM), Centre hospitalier de l’Université de Montréal, Montreal, Québec, Canada

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Summary

Pheochromocytoma is a rare tumor of the adrenal gland. It often presents with the classic triad of headache, palpitations and generalized sweating. Although not described as a typical symptom of pheochromocytoma, anxiety is the fourth most common symptom reported by patients suffering of pheochromocytoma. We report the case of a 64 year old man who had severe anxiety and panic disorder as presenting symptoms of pheochromocytoma. After 13 years of psychiatric follow-up, the patient was diagnosed with malignant pheochromocytoma. After surgical resection of his pheochromocytoma and his hepatic metastases, the major panic attacks completely disappeared, the anxiety symptoms improved significantly and the psychiatric medications were stopped except for a very low maintenance dose of venlafaxine. We found in our cohort of 160 patients with pheochromocytoma 2 others cases of apparently benign tumors with severe anxiety that resolved after pheochromocytoma resection. These cases highlight that pheochromocytoma should be included in the differential diagnosis of refractory anxiety disorder.

Learning points:

  • Anxiety and panic disorder may be the main presenting symptoms of pheochromocytoma.

  • The diagnosis of pheochromocytoma should be excluded in cases of long-term panic disorder refractory to medications since the anxiety may be secondary to a catecholamine-secreting tumor.

  • Surgical treatment of pheochromocytoma leads to significant improvement of anxiety disorders.

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Cheuk-Lik Wong Department of Medicine and Geriatrics, Caritas Medical Centre, Shamshuipo, Kowloon, Hong Kong SAR

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Chun-Kit Fok Department of Medicine and Geriatrics, Caritas Medical Centre, Shamshuipo, Kowloon, Hong Kong SAR

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Vicki Ho-Kee Tam Department of Medicine and Geriatrics, Caritas Medical Centre, Shamshuipo, Kowloon, Hong Kong SAR

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Summary

We report a case of elderly Chinese lady with neurofibromatosis type-1 presenting with longstanding palpitation, paroxysmal hypertension and osteoporosis. Biochemical testing showed mild hypercalcaemia with non-suppressed parathyroid hormone level suggestive of primary hyperparathyroidism, and mildly elevated urinary fractionated normetanephrine and plasma-free normetanephrine pointing to a catecholamine-secreting pheochromocytoma/paraganglioma. Further scintigraphic investigation revealed evidence of a solitary parathyroid adenoma causing primary hyperparathyroidism and a left pheochromocytoma. Resection of the parathyroid adenoma and pheochromocytoma resulted in normalization of biochemical abnormalities and hypertension. The rare concurrence of primary hyperparathyroidism and pheochromocytoma in neurofibromatosis type-1 is discussed.

Learning points:

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R T Casey Departments of Endocrinology and Diabetes

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B G Challis Departments of Endocrinology and Diabetes

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D Pitfield Departments of Endocrinology and Diabetes

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R M Mahroof Departments of Anaesthetics

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N Jamieson Departments of Hepatobiliary and Pancreatic Surgery

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C J Bhagra Departments of Cardiology, Cambridge University NHS Foundation Trust, Cambridge, UK

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A Vuylsteke Critical Care Unit

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S J Pettit Advanced Heart Failure Unit, Papworth Hospital NHS Foundation Trust, Cambridge, UK

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K C Chatterjee Departments of Endocrinology and Diabetes

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Summary

A phaeochromocytoma (PC) is a rare, catecholamine-secreting neuroendocrine tumour arising from the adrenal medulla. Presenting symptoms of this rare tumour are highly variable but life-threatening multiorgan dysfunction can occur secondary to catecholamine-induced hypertension or hypotension and subsequent cardiovascular collapse. High levels of circulating catecholamines can induce an acute stress cardiomyopathy, also known as Takotsubo cardiomyopathy. Recent studies have focused on early diagnosis and estimation of the prevalence of acute stress cardiomyopathy in patients with PC, but very little is reported about management of these complex cases. Here, we report the case of a 38-year-old lady who presented with an acute Takotsubo or stress cardiomyopathy and catecholamine crisis, caused by an occult left-sided 5 cm PC. The initial presenting crisis manifested with symptoms of severe headache and abdominal pain, triggered by a respiratory tract infection. On admission to hospital, the patient rapidly deteriorated, developing respiratory failure, cardiogenic shock and subsequent cardiovascular collapse due to further exacerbation of the catecholamine crisis caused by a combination of opiates and intravenous corticosteroid. An echocardiogram revealed left ventricular apical hypokinesia and ballooning, with an estimated left ventricular ejection fraction of 10–15%. Herein, we outline the early stabilisation period, preoperative optimisation and intraoperative management, providing anecdotal guidance for the management of this rare life-threatening complication of PC.

Learning points:

  • A diagnosis of phaeochromocytoma should be considered in patients presenting with acute cardiomyopathy or cardiogenic shock without a clear ischaemic or valvular aetiology.

  • Catecholamine crisis is a life-threatening medical emergency that requires cross-disciplinary expertise and management to ensure the best clinical outcome.

  • After initial resuscitation, treatment of acute catecholamine-induced stress cardiomyopathy requires careful introduction of alpha-blockade followed by beta-blockade if necessary to manage β-receptor-mediated tachycardia.

  • Prolonged α-adrenergic receptor stimulation by high levels of circulating catecholamines precipitates arterial vasoconstriction and intravascular volume contraction, which can further exacerbate hypotension. Invasive pressure monitoring can aid management of intravascular volume in these complex patients.

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Kohei Saitoh Departments of Diabetes and Endocrinology

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Takako Yonemoto Departments of Diabetes and Endocrinology
Medical Genetics, Shizuoka General Hospital, Shizuoka, Japan

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Takeshi Usui Medical Genetics, Shizuoka General Hospital, Shizuoka, Japan

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Kazuhiro Takekoshi Division of Sports Science, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan

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Makoto Suzuki Departments of Pathology

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Yoshiharu Nakashima Departments of Urology, Shizuoka General Hospital, Shizuoka, Japan

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Koji Yoshimura Departments of Urology, Shizuoka General Hospital, Shizuoka, Japan

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Rieko Kosugi Departments of Diabetes and Endocrinology

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Tatsuo Ogawa Departments of Diabetes and Endocrinology

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Tatsuhide Inoue Departments of Diabetes and Endocrinology

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Summary

Pheochromocytomas (PCCs) and paragangliomas (PGLs) are rare tumours with a heterogeneous genetic background. Up to 40% of apparently sporadic PCC/PGL cases carry 1 of the 12 gene germline mutations conferring genetic susceptibility to PCC/PGL. Although the precise mechanisms are unclear, TMEM127 is one of the rare responsible genes for PCC/PGL. Here we report the case of a patient with familial PCC having a novel TMEM127 variant (c.119C > T, p.S40F). In silico prediction analysis to evaluate the functional significance of this variant suggested that it is a disease-causing variant. A PCC on the left side was considered to be the dominant lesion, and unilateral adrenalectomy was performed. The histopathologic findings were consistent with benign PCC. A loss of heterogeneity of the TMEM127 variant was detected in the surgically removed tumour.

Learning points:

  • c.119C > T (p.S40F) is a novel TMEM127 variant that can cause pheochromocytoma.

  • The tumour showed loss of heterozygosity of this TMEM127 variant.

  • The clinical phenotype of this mutation is putative bilateral pheochromocytoma in the 4th decade.

  • Unilateral adrenalectomy may be performed as the initial surgery in such cases.

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Annika Sjoeholm Department of Women's and Children's Health, University of Otago, Dunedin School of Medicine, PO Box 56, Dunedin 9054, New Zealand

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Cassandra Li Department of Women's and Children's Health, University of Otago, Dunedin School of Medicine, PO Box 56, Dunedin 9054, New Zealand

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Chaey Leem Department of Women's and Children's Health, University of Otago, Dunedin School of Medicine, PO Box 56, Dunedin 9054, New Zealand

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Aiden Lee Department of Women's and Children's Health, University of Otago, Dunedin School of Medicine, PO Box 56, Dunedin 9054, New Zealand

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Maria P Stack Paediatric Nephrology, Starship Children's Hospital, Auckland, New Zealand

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Paul L Hofman Liggins Institute, University of Auckland, Auckland, New Zealand

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Benjamin J Wheeler Department of Women's and Children's Health, University of Otago, Dunedin School of Medicine, PO Box 56, Dunedin 9054, New Zealand
Paediatric Endocrinology, Southern District Health Board, Dunedin, New Zealand

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Summary

Phaeochromocytomas are a rare clinical entity, with dual hormone-secreting lesions particularly uncommon, seen in <1%. ACTH is the most common hormone co-produced, and is potentially lethal if not diagnosed. We present the case of a previously well 10-year-old boy, who presented acutely with a hypertensive crisis and was found to have a unilateral, non-syndromic phaeochromocytoma. Medical stabilization of his hypertension was challenging, and took 3 weeks to achieve, before proceeding to unilateral adrenalectomy. Post-operatively the child experienced severe fatigue and was subsequently confirmed to have adrenal insufficiency. He improved markedly with hydrocortisone replacement therapy, which is ongoing 6 months post-operatively. In retrospect this likely represents unrecognized, sub-clinical ACTH-dependent Cushing's syndrome secondary to an ACTH/or precursor dual-hormone secreting phaeochromocytoma. At follow-up, his hypertension had resolved, there was no biochemical evidence of recurrence of the phaeochromocytoma, and genetic analysis was indicative of a sporadic lesion.

Learning points

  • Dual hormone secreting phaeochromocytomas with ACTH/or a precursor may cause secondary adrenal insufficiency following surgical removal.

  • The concurrent features of Cushing's syndrome can be mild and easily overlooked presenting diagnostic and management pitfalls.

  • As concomitant syndromes of hormone excess are rare in phaeochromocytomas; the diagnosis requires a high index of suspicion.

  • Serial/diurnal cortisol levels, ACTH measurement +/− low dose dexamethasone suppression (when clinically stable, appropriate adrenergic blockade in place, and well supervised), can all be considered as needed.

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N Atapattu Lady Ridgeway Hospital, Colombo, Sri Lanka

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K A C P Imalke General Hospital, Matara, Sri Lanka

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M Madarasinghe General Hospital, Matara, Sri Lanka

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A Lamahewage General Hospital, Matara, Sri Lanka

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K S H de Silva Lady Ridgeway Hospital, Colombo, Sri Lanka
Department of Paediatrics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka

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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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