Publication Details > Case Report Type > Unique/unexpected symptoms or presentations of a disease

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S Chew Sue Mei Wolfson Diabetes and Endocrine Clinic, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK

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N Pritchard Department of Renal Medicine, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK

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H Grayton Cambridge Genomics Laboratory, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK

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I Simonicova Cambridge Genomics Laboratory, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK

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S M Park Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK

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A I Adler Wolfson Diabetes and Endocrine Clinic, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK
University of Oxford Diabetes Trials Unit, Oxford, UK

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Summary

Kabuki syndrome is a genetic disorder characterised by distinctive facial features, developmental delays, and multisystem congenital anomalies. Endocrine complications such as premature thelarche and short stature are common, whereas disorders of glycaemic control are less frequent. We describe a 23-year-old white female referred to the diabetes clinic for hyperglycaemia during haemodialysis. She was subsequently diagnosed with Kabuki syndrome based on characteristic clinical features, confirmed by detecting a heterozygous pathogenic variant in KMT2D. She was known to have had multiple congenital anomalies at birth, including complex congenital heart disease and a single dysplastic ectopic kidney, and received a cadaveric transplanted kidney at the age of 13. She had hyperglycaemia consistent with post-transplant diabetes mellitus (DM) and was started on insulin. Examination at the time revealed truncal obesity. She developed acute graft rejection and graft failure 14 months post-transplant and she was started on haemodialysis. Her blood glucose levels normalised post-graft explant, but she was hyperglycaemic again during haemodialysis at the age of 23. Given her clinical phenotype, negative diabetes antibodies and normal pancreas on ultrasound, she was assumed to have type 2 DM and achieved good glycaemic control with gliclazide.

Learning points

  • Involve clinical genetics early in the investigative pathway of sick neonates born with multiple congenital anomalies to establish a diagnosis to direct medical care.

  • Consider the possibility of Kabuki syndrome (KS) in the differential diagnoses in any neonate with normal karyotyping or microarray analysis and with multiple congenital anomalies (especially cardiac, renal, or skeletal), dysmorphic facial features, transient neonatal hypoglycaemia and failure to thrive.

  • Consider the possibility of diabetes as an endocrine complication in KS patients who are obese or who have autoimmune disorders.

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Presoon Kuruvilla Department of Internal Medicine, Caritas Hospital, Kerala, India

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Angel John Department of Internal Medicine, Caritas Hospital, Kerala, India

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Ashith Murali Department of Internal Medicine, Caritas Hospital, Kerala, India

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Summary

Insulin autoantibody syndrome (IAS) or Hirata’s disease is a rare condition characterized by recurrent fasting hypoglycaemic and postprandial hyperglycaemic episodes. Insulin autoantibodies are diagnostic for the condition. Hirata’s disease has been seen to be associated with other autoimmune conditions. Vitiligo is a common depigmentation disorder whose exact cause is unknown but thought to have an autoimmune aetiology. Although autoimmunity plays a role in the pathogenesis of both the diseases, association between the two has not been reported till date. In our case, a 72-year-old Indian woman with vitiligo for the past 30 years presented with recurrent episodes of fasting hypoglycaemia. She was found to have very high levels of fasting insulin, C-peptide, and insulin antibody and was diagnosed with IAS. Thus, we conclude that the clinical spectrum of Hirata’s disease has to be taken as more heterogenous than previously assumed.

Learning points

  • Insulin autoantibody syndrome (IAS) or Hirata’s disease is a rare condition characterized by recurrent fasting hypoglycaemic and postprandial hyperglycaemic episodes in which insulin plays a major role.

  • Insulin autoantibodies are diagnostic for IAS. The endocrine insulin and its autoantibodies play a major role in the pathogenesis of the disease.

  • Vitiligo is a common depigmentation disorder whose exact cause is unknown but thought to have an autoimmune aetiology.

  • IAS and vitiligo are two diseases with autoimmune aetiology which has been seen to be associated with each other (the first case to be reported).

  • The clinical spectrum of Hirata’s disease has to be taken as more heterogenous than previously assumed.

  • On dealing with autoimmune diseases, we should also keep in mind about other diseases with autoimmune pathogenesis.

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Randa Ghazal Asswad Department of Diabetes and Endocrinology, University Hospital Aintree, Liverpool University Hospitals NHS Foundation Trust, Liverpool, UK

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Muhammad Ilyas Khan Department of Diabetes and Endocrinology, University Hospital Aintree, Liverpool University Hospitals NHS Foundation Trust, Liverpool, UK

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Catherine Elizabeth Gilkes Department of Neurosurgery, The Walton Centre NHS Foundation Trust, Liverpool, UK

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Christina Daousi Department of Diabetes and Endocrinology, University Hospital Aintree, Liverpool University Hospitals NHS Foundation Trust, Liverpool, UK

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Sravan Kumar Thondam Department of Diabetes and Endocrinology, University Hospital Aintree, Liverpool University Hospitals NHS Foundation Trust, Liverpool, UK

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Summary

Functioning gonadotroph adenomas with clinical manifestations are extremely rare and the majority of these are FSH-secreting macroadenomas. Clinical symptoms are due to excess gonadotrophins and sex hormones, and these may be present for a long time before the diagnosis of pituitary adenoma is made. We present the case of a 37-year-old Caucasian male with clinical manifestations of an FSH-secreting pituitary macroadenoma. He had sexual dysfunction for a year followed by bilateral testicular pain and enlargement which was initially treated as suspected recurrent epididymitis, but his symptoms did not resolve. He presented a year later with headaches and bilateral superior temporal visual field defects. Brain imaging confirmed a pituitary macroadenoma with optic chiasm compression. Pituitary profile demonstrated an unusually high FSH with high normal LH and normal testosterone level. The patient successfully underwent transsphenoidal hypophysectomy and histology confirmed gonadotroph differentiation and immunoreactivity predominantly with FSH. Gonadotrophin levels and testosterone dropped significantly after surgery, and he was started on testosterone replacement. MR imaging, 2 years post surgery, showed no recurrence of pituitary adenoma. In conclusion, testicular enlargement and hypogonadal symptoms associated with low testosterone levels are recognised features in FSH-secreting pituitary adenomas. Our patient had hypogonadal symptoms but consistently high normal testosterone levels prior to surgery. The reason for low libido despite high testosterone is unclear. Our case highlights the need to suspect such rare underlying pituitary pathology when dealing with unusual combinations of hypogonadal symptoms, testicular enlargement with low or normal testosterone levels.

Learning points

  • Functioning pituitary adenomas that secrete excess follicle-stimulating hormone (FSH) are very rare and often present with symptoms related to pituitary mass effect.

  • Testicular enlargement alongside sexual dysfunction are commonly reported symptoms amongst male patients.

  • Pituitary profile results demonstrate a raised FSH level with either a low, normal, or even high testosterone level which may not always correlate to clinical symptoms.

  • Pituitary pathology should be considered in males presenting with unusual combinations of testicular enlargement and hypogonadal symptoms even with normal testosterone levels.

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Chi-Ta Hsieh Department of Internal Medicine, Tungs’ Taichung MetroHarbor Hospital, Taichung, Taiwan

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Jui-Ting Yu Division of Hematology and Medical Oncology, Department of Internal Medicine, Tungs’ Taichung MetroHarbor Hospital, Taichung, Taiwan

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Tang-Yi Tsao Department of Internal Medicine, Tungs’ Taichung MetroHarbor Hospital, Taichung, Taiwan
Department of Post-Baccalaureate Medicine, National Chung Hsing University, Taichung, Taiwan

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Yao Hsien Tseng Department of Internal Medicine, Tungs’ Taichung MetroHarbor Hospital, Taichung, Taiwan
Division of Endocrinology and Metabolism, Department of Internal Medicine, Tungs' Taichung MetroHarbor Hospital, Taichung, Taiwan
Department of Post-Baccalaureate Medicine, National Chung Hsing University, Taichung, Taiwan

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Summary

A 69-year-old woman presented with weight loss, fever, dizziness, exertional dyspnea, and drenching night sweats. Imaging showed a thyroid goiter at the left lobe that measured 5.6 × 3.4 × 3.5 cm in size. On computed tomography, she was found to have large adrenal masses. Core needle biopsy of the left thyroid mass revealed the presence of a mucosa-associated lymphoid tissue extranodal marginal zone B cell lymphoma. Non-Hodgkin’s lymphomas (NHL) typically develop in lymph nodes or other lymphatic tissues. There have been cases where the thyroid has been affected, and the secondary involvement of the adrenal gland is common. In reported cases, 7–59% of patients with NHL exhibited symptoms of thyroid dysfunction. Our patient presented no symptoms of thyroid dysfunction or Hashimoto’s thyroiditis. The patient had bilateral adrenal lymphomas that led to adrenal insufficiency. Immunochemotherapy provided a good response in this case, as seen by the rapid improvement in thyroid and adrenal mass on follow-up PET/CT.

Learning points

  • Thyroid lymphoma requires a high index of suspicion for diagnosis in patients with a rapidly growing thyroid tumor, even in the absence of chronic inflammatory thyroid disease.

  • Depending on the extent of involvement, adrenal lymphoma may rapidly cause adrenal insufficiency.

  • In the setting of acute illness, appropriate levels of plasma cortisol are often unclear, necessitating early initiation of glucocorticoid therapy based on clinical suspicion, especially when features like bilateral adrenal masses and elevated ACTH levels are present.

  • Treatment modalities include chemotherapy and radiation therapy for localized lesions, together with hormone replacement for organ dysfunction.

  • The origin of the tumor influences the clinical outcome of patients with lymphoma simultaneously involving the thyroid and adrenal glands.

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Gaayathri Krishnan Endocrinology Unit, Department of Internal Medicine, Queen Elizabeth Hospital, Kota Kinabalu, Sabah, Malaysia

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Nur Hidayah Mohd Makhatar Endocrinology Unit, Department of Internal Medicine, Queen Elizabeth Hospital, Kota Kinabalu, Sabah, Malaysia

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Tee Hwee Ching Endocrinology Unit, Department of Internal Medicine, Queen Elizabeth Hospital, Kota Kinabalu, Sabah, Malaysia

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Serena Khoo Endocrinology Unit, Department of Internal Medicine, Queen Elizabeth Hospital, Kota Kinabalu, Sabah, Malaysia

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Summary

Pituitary tuberculoma is extremely rare and may pose as a diagnostic challenge especially when encountered as an isolated lesion without other systemic manifestation of tuberculosis. A 21-year-old female was admitted for diabetic ketoacidosis. On the third day of admission following the resolution of diabetic ketoacidosis she developed a sudden onset of headache and blurring of vision suggestive of pituitary apoplexy. An urgent MRI brain revealed a large sellar mass with erosion into the sphenoid sinus and intracranial vasculitis. Transphenoidal surgery was done for tumour debulking which allowed histopathological examination of the sellar mass. Immunohistochemical examination of the sellar mass was positive for Gene Xpert MTB/Rif suggesting a tuberculoma. Anti-tuberculous therapy was commenced with full recovery of pituitary hormonal profile seen 7 months post-treatment. In regions with a high incidence of tuberculosis, a tuberculoma should be a considered in a diagnostic evaluation of a sellar lesion.

Learning points

  • In an endemic area of tuberculosis, tuberculoma should be considered as a differential diagnosis when evaluating sellar lesions.

  • Pituitary tuberculoma can present with pituitary apoplexy-like symptoms.

  • Prompt diagnosis and treatment may lead to recovery of pituitary function.

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Vahab Fatourechi Division of Endocrinology, Diabetes, Metabolism, and Nutrition, Mayo Clinic, Rochester, Minnesota, USA

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Amy A Swanson Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA

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Robert A Lee Department of Radiology, Mayo Clinic, Rochester, Minnesota, USA

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Summary

We report the case of a male patient with papillary thyroid cancer, familial thoracic aortic aneurysm and dissection, and a variation in the MYH11 gene. Because of considerable tumor bulk in the neck that was not resectable, the patient underwent partial resection at age 14 years. Since then, the patient has received only suppressive thyroid hormone therapy. He is now 71 years old, which is 57 years after the initial resection. The patient received care at our institution from July 2009 to August 2019, during which we documented the stability of multiple calcified masses in the neck. Follow-up examinations at another institution from September 2019 to April 2023 also confirmed the stability of the masses. The underlying cause of this unusually long indolent course of the disease is unclear. Whether extensive tumor calcifications or the MYH11 sequence variation contributed to the disease course is also uncertain.

Learning points

  • Papillary thyroid cancer with neck metastases may, in some cases, be stable and remain asymptomatic for decades.

  • If locoregional stability of papillary thyroid cancer is documented for many years, observation may be preferable to extensive neck surgery in selected cases.

  • This is the first report of an MYH11 gene alteration and thoracic aortic aneurysm in a patient with papillary thyroid cancer with indolent neck metastases.

  • Future studies of MYH11 gene alterations in thyroid carcinoma are needed.

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Yu Arai Department of Family & General Medicine, Tokyo-Kita Medical Center, Japan

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Satoru Okada Department of Family & General Medicine, Tokyo-Kita Medical Center, Japan

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Taiju Miyagami Department of General Medicine, Faculty of Medicine, Juntendo University, Tokyo, Japan

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Narumi Sue Department of Family & General Medicine, Tokyo-Kita Medical Center, Japan

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Chisato Kainaga Department of Family & General Medicine, Tokyo-Kita Medical Center, Japan

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Summary

Myxoedema coma is a severe form of hypothyroidism with multiple organ dysfunction, characterised by an altered state of consciousness and hypothermia. Intravenous thyroid hormone replacement therapy is the preferred treatment for myxoedema. The mortality rate associated with this disease is high, and early detection and intervention are essential. Supraglottal myxoedema is a rare form of periglottic oedema and can be fatal. A previously healthy 66-year-old man presented with impaired consciousness, hypothermia, and nonpitting oedema. Blood tests revealed the presence of hypothyroidism and respiratory acidosis. He was intubated for type 2 respiratory failure; however, severe laryngeal oedema made the procedure difficult to perform. Oral thyroid hormone therapy was initiated under the diagnosis of myxoedema coma. Tracheostomy was performed because of prolonged type 2 respiratory failure and laryngeal oedema. Three weeks after admission, the patient was weaned off the ventilator. Approximately a week later, laryngeal oedema improved, and the tracheostomy tube was removed. The patient was discharged and remained stable for 3 months. This case report describes a patient with comatose myxoedema and supraglottic oedema who was successfully treated with oral medication alone. This case shows that supraglottic oedema should be considered even in the absence of wheezing or other signs of upper airway obstruction.

Learning points

  • Myxoedema coma is a differential diagnosis of respiratory acidosis.

  • In myxoedematous coma, the possibility of difficult intubation due to supraglottic oedema should be considered.

  • Tracheostomy should be considered for supraglottic myxoedema, which often results in prolonged ventilator use.

  • Supraglottic myxoedema can be treated with oral medications.

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John J Orrego Department of Endocrinology and Metabolism, Kaiser Foundation Health Plan of Colorado, Denver, Colorado, USA

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Joseph A Chorny Department of Pathology, Kaiser Foundation Health Plan of Colorado, Denver, Colorado, USA

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Summary

Unlike medullary thyroid carcinomas, follicular cell-derived thyroid malignancies have rarely been associated with paraneoplastic endocrine syndromes. An ultrarare case of a middle-aged man with heavily treated broadly metastatic radioactive iodine-refractory widely invasive Hürthle cell carcinoma (HCC) of the thyroid with two synchronous paraneoplastic endocrine syndromes, T3 thyrotoxicosis and hypercalcemia of malignancy, is discussed here. The levothyroxine-induced T3 thyrotoxicosis was a gradual process that became more noticeable as the tumor burden, refractory to different modalities of therapy, expanded. The 1,25-dihydroxyvitamin-D-mediated hypercalcemia, on the other hand, developed in a manner of weeks, as it usually happens. It is important to emphasize that in patients with metastatic Hürthle cell and follicular carcinomas of the thyroid, on TSH suppressive therapy, the unexplained and progressive decline in FT4 and rise in FT3 levels, resulting in an elevated FT4/FT3 ratio, could be an indication of augmented type 1 (D1) and/or type 2 (D2) deiodinase expression in tumoral tissue, causing an increased conversion from the prohormone T4 into the active metabolite T3 via outer ring deiodination.

Learning points

  • Albeit extremely rare, some patients with thyroid cancer can present with more than one concomitant paraneoplastic syndrome.

  • Although medullary thyroid carcinoma is the thyroid malignancy that is usually associated with paraneoplastic endocrine syndromes, follicular cell-derived thyroid cancers have been rarely described as being the culprit.

  • In patients with metastatic Hürthle cell and follicular thyroid carcinomas, the unexplained and progressive decline in FT4 and rise in FT3 levels could be an indication of augmented type 1 (D1) and/or type 2 (D2) deiodinase expression in tumoral tissue, causing an increased conversion from T4 into T3 leading to T3 thyrotoxicosis.

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Debby Christiana Soemitha Department of Internal Medicine, Faculty of Medicine, Universitas Gadjah Mada, Yogyakarta, Indonesia

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Deshinta Putri Mulya Division of Allergy and Immunology, Department of Internal Medicine, Faculty of Medicine, Universitas Gadjah Mada, Yogyakarta, Indonesia

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Hemi Sinorita Division of Endocrinology, Metabolism and Diabetes, Department of Internal Medicine, Faculty of Medicine, Universitas Gadjah Mada, Yogyakarta, Indonesia

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Summary

Diabetes foot ulcer (DFU) is a common long-term complication of diabetes. Intractable chronic wounds to standard care of diabetic foot raise the question of whether other factors intervene in disease development. We report a case of a 54-year-old male patient who came to Sardjito General Hospital with leg pain and previous history of multiple debridement and amputation for DFU referred from a remote hospital yet no improvement was evident in the surrounding lesion following treatment. Consequently, a histopathological examination was carried out proving the presence of other aetiologic factors, vasculitis and panniculitis existing in the lesion. In this case, we report a rare type of causative factor of foot ulcers among diabetic patients. Vasculitis suspected for polyarteritis nodosa accompanied by panniculitis is considered in this patient. The treatment of choice is corticosteroids or immunosuppressants based on the clinical condition, contrary to usual wound care in DFU. Based on the evidence, clinicians need to consider other causes than only macrovascular complications in a diabetic patient with DFU that is intractable to standard wound care. In this patient, vasculitis may be considered in forming diabetic foot ulcers alongside macrovascular complications.

Learning points

  • A thorough examination is essential to rule out other processes in intractable DFU patients.

  • Prompt management based on proper diagnosis is crucial to prevent peripheral arterial disease complications.

  • Vasculitis and macrovascular complication are inseparable processes forming DFU in this patient.

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Salman Zahoor Bhat Division of Endocrinology, Department of Medicine, Diabetes and Metabolism, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

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Amir H Hamrahian Division of Endocrinology, Department of Medicine, Diabetes and Metabolism, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

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Yubo Wu Division of Urologic Pathology, Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, USA

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Misop Han Department of Urology, The Johns Hopkins University School of Medicine, Baltimore, USA

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Roberto Salvatori Division of Endocrinology, Department of Medicine, Diabetes and Metabolism, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

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Summary

Pheochromocytomas are rare adrenal tumors characterized by excessive catecholamine secretion. Symptoms and signs associated with pheochromocytomas are usually intermittent and chronic but can rarely develop into life-threatening crises. We describe a case of acute severe congestive heart failure in a previously healthy female, who recovered rapidly (4 days after admission) with acute medical therapy. The etiology on evaluation was a spontaneous bleed in a previously undiagnosed pheochromocytoma, resulting in a pheochromocytoma crisis and transient stress cardiomyopathy, followed by quick recovery of cardiac function. Our aim is to describe pheochromocytoma as a rare cause of stress cardiomyopathy. We discuss the evaluation of pheochromocytoma during critical illness and triggers/treatment strategies for pheochromocytoma crises.

Learning points

  • Hemorrhage in a pheochromocytoma can result in a pheochromocytoma crisis, with sudden release of excess catecholamines resulting in multisystem organ dysfunction and high mortality.

  • Acute decompensated heart failure can be a rare presentation of pheochromocytoma, in a patient with no cardiac risk factors.

  • Measurement of metanephrines in acutely stressful clinical situations can have considerable overlap with the biochemical picture of pheochromocytoma. Early imaging studies may help with the differential diagnosis.

  • Pheochromocytoma should be ruled out before performing an adrenal biopsy.

  • Emergent adrenalectomy in pheochromocytoma crisis results in high mortality. Medical management of the acute crisis followed by elective adrenalectomy after alpha-blockade results in better outcomes.

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