Browse

You are looking at 1 - 10 of 24 items

Jai Madhok Department of Anesthesiology, Perioperative and Pain Medicine

Search for other papers by Jai Madhok in
Google Scholar
PubMed
Close
,
Amy Kloosterboer Department of Anesthesiology, Perioperative and Pain Medicine

Search for other papers by Amy Kloosterboer in
Google Scholar
PubMed
Close
,
Chitra Venkatasubramanian Department of Neurology & Neurological Sciences, Stanford University Medical Center, Stanford, California, USA

Search for other papers by Chitra Venkatasubramanian in
Google Scholar
PubMed
Close
, and
Frederick G Mihm Department of Anesthesiology, Perioperative and Pain Medicine

Search for other papers by Frederick G Mihm in
Google Scholar
PubMed
Close

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.

Open access
Shamaila Zaman Hammersmith Hospital, Imperial College Healthcare NHS Trust, London, UK

Search for other papers by Shamaila Zaman in
Google Scholar
PubMed
Close
,
Bijal Patel Hammersmith Hospital, Imperial College Healthcare NHS Trust, London, UK

Search for other papers by Bijal Patel in
Google Scholar
PubMed
Close
,
Paul Glynne The Physicians’ Clinic, London, UK

Search for other papers by Paul Glynne in
Google Scholar
PubMed
Close
,
Mark Vanderpump The Physicians’ Clinic, London, UK

Search for other papers by Mark Vanderpump in
Google Scholar
PubMed
Close
,
Ali Alsafi Hammersmith Hospital, Imperial College Healthcare NHS Trust, London, UK

Search for other papers by Ali Alsafi in
Google Scholar
PubMed
Close
,
Sairah Khan Hammersmith Hospital, Imperial College Healthcare NHS Trust, London, UK

Search for other papers by Sairah Khan in
Google Scholar
PubMed
Close
,
Rashpal Flora Hammersmith Hospital, Imperial College Healthcare NHS Trust, London, UK

Search for other papers by Rashpal Flora in
Google Scholar
PubMed
Close
,
Fausto Palazzo Hammersmith Hospital, Imperial College Healthcare NHS Trust, London, UK

Search for other papers by Fausto Palazzo in
Google Scholar
PubMed
Close
, and
Florian Wernig Hammersmith Hospital, Imperial College Healthcare NHS Trust, London, UK

Search for other papers by Florian Wernig in
Google Scholar
PubMed
Close

Summary

Ectopic adrenocorticotropic hormone (ACTH) production is an uncommon cause of Cushing’s syndrome and, rarely, the source can be a phaeochromocytoma. A 55-year-old man presented following an episode of presumed gastroenteritis with vomiting and general malaise. Further episodes of diarrhoea, joint pains and palpitations followed. On examination, he was hypertensive with no clinical features to suggest hypercortisolaemia. He was subsequently found to have raised plasma normetanephrines of 3.98 nmol/L (NR <0.71) and metanephrines of 0.69 nmol/L (NR <0.36). An adrenal CT showed a 3.8 cm right adrenal nodule, which was not MIBG-avid but was clinically and biochemically consistent with a phaeochromocytoma. He was started on alpha blockade and referred for right adrenalectomy. Four weeks later, on the day of admission for adrenalectomy, profound hypokalaemia was noted (serum potassium 2.0 mmol/L) with non-specific ST-segment ECG changes. He was also diagnosed with new-onset diabetes mellitus (capillary blood glucose of 28 mmol/L). He reported to have gained weight and his skin had become darker over the course of the last 4 weeks. Given these findings, he underwent overnight dexamethasone suppression testing, which showed a non-suppressed serum cortisol of 1099 nmol/L. Baseline serum ACTH was 273 ng/L. A preliminary diagnosis of ectopic ACTH secretion from the known right-sided phaeochromocytoma was made and he was started on metyrapone and insulin. Surgery was postponed for 4 weeks. Following uncomplicated laparoscopic adrenalectomy, the patient recovered with full resolution of symptoms.

Learning points:

  • Phaeochromocytomas are a rare source of ectopic ACTH secretion. A high clinical index of suspicion is therefore required to make the diagnosis.

  • Ectopic ACTH secretion from a phaeochromocytoma can rapidly progress to severe Cushing’s syndrome, thus complicating tumour removal.

  • Removal of the primary tumour often leads to full recovery.

  • The limited literature suggests that the presence of ectopic Cushing’s syndrome does not appear to have any long-term prognostic implications.

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

Search for other papers by Aisha A Tepede in
Google Scholar
PubMed
Close
,
James Welch Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Disease (NIDDK)

Search for other papers by James Welch in
Google Scholar
PubMed
Close
,
Maya Lee Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Disease (NIDDK)

Search for other papers by Maya Lee in
Google Scholar
PubMed
Close
,
Adel Mandl Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Disease (NIDDK)

Search for other papers by Adel Mandl in
Google Scholar
PubMed
Close
,
Sunita K Agarwal Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Disease (NIDDK)

Search for other papers by Sunita K Agarwal in
Google Scholar
PubMed
Close
,
Naris Nilubol National Cancer Institute (NCI), National Institutes of Health, Bethesda, Maryland, USA

Search for other papers by Naris Nilubol in
Google Scholar
PubMed
Close
,
Dhaval Patel National Cancer Institute (NCI), National Institutes of Health, Bethesda, Maryland, USA

Search for other papers by Dhaval Patel in
Google Scholar
PubMed
Close
,
Craig Cochran Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Disease (NIDDK)

Search for other papers by Craig Cochran in
Google Scholar
PubMed
Close
,
William F Simonds Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Disease (NIDDK)

Search for other papers by William F Simonds in
Google Scholar
PubMed
Close
,
Lee S Weinstein Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Disease (NIDDK)

Search for other papers by Lee S Weinstein in
Google Scholar
PubMed
Close
,
Abhishek Jha Eunice Kennedy Shriver National Institute of Child Health and Development (NICHD), National Institutes of Health, Bethesda, Maryland, USA

Search for other papers by Abhishek Jha in
Google Scholar
PubMed
Close
,
Corina Millo Clinical Center PET Department (CC PET), National Institutes of Health, Bethesda, Maryland, USA

Search for other papers by Corina Millo in
Google Scholar
PubMed
Close
,
Karel Pacak Eunice Kennedy Shriver National Institute of Child Health and Development (NICHD), National Institutes of Health, Bethesda, Maryland, USA

Search for other papers by Karel Pacak in
Google Scholar
PubMed
Close
, and
Jenny E Blau Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Disease (NIDDK)

Search for other papers by Jenny E Blau in
Google Scholar
PubMed
Close

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.

Open access
Alessandro Rossini Endocrinology and Diabetes Unit, ASST Papa Giovanni XXIII, Bergamo, Italy

Search for other papers by Alessandro Rossini in
Google Scholar
PubMed
Close
,
Francesca Perticone Endocrine Unit, Department of Internal Medicine

Search for other papers by Francesca Perticone in
Google Scholar
PubMed
Close
,
Laura Frosio Endocrine Unit, Department of Internal Medicine

Search for other papers by Laura Frosio in
Google Scholar
PubMed
Close
,
Marco Schiavo Lena Department of Pathology, San Raffaele Hospital, Milan, Italy

Search for other papers by Marco Schiavo Lena in
Google Scholar
PubMed
Close
, and
Roberto Lanzi Endocrine Unit, Department of Internal Medicine

Search for other papers by Roberto Lanzi in
Google Scholar
PubMed
Close

Summary

ACTH-secreting pheochromocytoma is a very rare cause of Cushing’s syndrome, with a high morbidity and mortality risk due to both cortisol and catecholamines excess. We report the case of a 45-year-old female patient with a 3 cm, high-density, left adrenal mass, diagnosed as an ACTH-secreting pheochromocytoma. The biochemical sensitivity of the tumor to somatostatin analogues was tested by a 100 μg s.c. octreotide administration, which led to an ACTH and cortisol reduction of 50 and 25% respectively. In addition to alpha and beta blockers, preoperative approach to laparoscopic adrenalectomy included octreotide, a somatostatin analogue, together with ketoconazole, in order to achieve an adequate pre-surgical control of cortisol release. Histopathological assessment confirmed an ACTH-secreting pheochromocytoma expressing type 2 and 5 somatostatin receptors (SSTR-2 and -5).

Learning points:

  • ACTH-secreting pheochromocytomas represent a rare and severe condition, characterized by high morbidity and mortality risk.

  • Surgical removal of the adrenal mass is the gold standard treatment, but adequate medical therapy is required preoperatively to improve the surgical outcome and to avoid major complications.

  • Somatostatin analogs, in addition to other medications, may represent a useful therapeutic option for the presurgical management of selected patients.

  • In this sense, the octreotide challenge test is a useful tool to predict favorable therapeutic response to the treatment.

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

Search for other papers by Eka Melson in
Google Scholar
PubMed
Close
,
Sidra Amir University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK

Search for other papers by Sidra Amir in
Google Scholar
PubMed
Close
,
Lisa Shepherd Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK
University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK

Search for other papers by Lisa Shepherd in
Google Scholar
PubMed
Close
,
Samina Kauser University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK

Search for other papers by Samina Kauser in
Google Scholar
PubMed
Close
,
Bethan Freestone University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK

Search for other papers by Bethan Freestone in
Google Scholar
PubMed
Close
, and
Punith Kempegowda University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK

Search for other papers by Punith Kempegowda in
Google Scholar
PubMed
Close

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.

Open access
Haruyuki Ohsugi Department of Urology and Andrology, Kansai Medical University, Hirakata, Japan

Search for other papers by Haruyuki Ohsugi in
Google Scholar
PubMed
Close
,
Nae Takizawa Department of Urology and Andrology, Kansai Medical University, Hirakata, Japan

Search for other papers by Nae Takizawa in
Google Scholar
PubMed
Close
,
Hidefumi Kinoshita Department of Urology and Andrology, Kansai Medical University, Hirakata, Japan

Search for other papers by Hidefumi Kinoshita in
Google Scholar
PubMed
Close
, and
Tadashi Matsuda Department of Urology and Andrology, Kansai Medical University, Hirakata, Japan

Search for other papers by Tadashi Matsuda in
Google Scholar
PubMed
Close

Summary

A 21-year-old woman was referred to our hospital to treat bilateral pheochromocytomas (PCCs) after a diagnosis of multiple endocrine neoplasia type 2A (MEN2A). We performed bilateral laparoscopic adrenalectomy. One year after the operation, urinary fractionated metanephrines in 24-h urine increased. MRI showed a 30 mm tumor on the interaortocaval region and 123I-MIBG concentrated in this area. We excised the tumor and performed para-aortic lymphadenectomy. Histopathologic examination confirmed a PCC arising from ectopic adrenal tissue. Urinary fractionated metanephrines in 24-h urine declined to basal levels immediately after the operation. We detected no recurrence of paraganglioma or PCC for 5 years after the treatment.

Learning points:

  • Most ectopic adrenal tissue is associated with no symptoms and contains only the adrenal cortex.

  • Adrenocortical tumors sometimes arise from ectopic adrenal tissues similarly to in the normal adrenal gland.

  • PCC arising from ectopic adrenal tissue occurs infrequently.

  • MEN2-related PCC is accompanied by adrenal medullary hyperplasia, which might be part of tumorigenesis.

Open access
Valeria de Miguel Departments of Endocrinology, Metabolism and Nuclear Medicine

Search for other papers by Valeria de Miguel in
Google Scholar
PubMed
Close
,
Andrea Paissan Departments of Endocrinology, Metabolism and Nuclear Medicine

Search for other papers by Andrea Paissan in
Google Scholar
PubMed
Close
,
Patricio García Marchiñena Departments of Urology, Metabolism and Nuclear Medicine

Search for other papers by Patricio García Marchiñena in
Google Scholar
PubMed
Close
,
Alberto Jurado Departments of Urology, Metabolism and Nuclear Medicine

Search for other papers by Alberto Jurado in
Google Scholar
PubMed
Close
,
Mariana Isola Pathology, Buenos Aires, Argentina

Search for other papers by Mariana Isola in
Google Scholar
PubMed
Close
,
José Alfie Hypertension Unit of Hospital Italiano de Buenos Aires, Buenos Aires, Argentina

Search for other papers by José Alfie in
Google Scholar
PubMed
Close
, and
Patricia Fainstein-Day Departments of Endocrinology, Metabolism and Nuclear Medicine

Search for other papers by Patricia Fainstein-Day in
Google Scholar
PubMed
Close

Summary

We present the case of a 25-year-old male with a history of neurofibromatosis type 1 and bilateral pheochromocytoma 4 years after kidney transplantation that was successfully treated with simultaneous bilateral posterior retroperitoneoscopic adrenalectomy.

Learning points:

  • Hypertensive patients with NF1 should always be screened for pheochromocytoma.

  • Pheochromocytoma is rarely associated with transplantation, but it must be ruled out in patients with genetic susceptibility.

  • Posterior retroperitoneoscopic adrenalectomy (PRA) allows more direct access to the adrenal glands, especially in patients with previous abdominal surgeries.

Open access
Vasileios Chortis Institute of Metabolism and Systems Research, University of Birmingham
Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK
Departments of Endocrinology, University Hospital Birmingham NHS Foundation Trust, Birmingham, UK

Search for other papers by Vasileios Chortis in
Google Scholar
PubMed
Close
,
Christine J H May Departments of Endocrinology, University Hospital Birmingham NHS Foundation Trust, Birmingham, UK

Search for other papers by Christine J H May in
Google Scholar
PubMed
Close
,
Kassiani Skordilis Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK
Departments of Cellular Pathology, University Hospital Birmingham NHS Foundation Trust, Birmingham, UK

Search for other papers by Kassiani Skordilis in
Google Scholar
PubMed
Close
,
John Ayuk Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK
Departments of Endocrinology, University Hospital Birmingham NHS Foundation Trust, Birmingham, UK

Search for other papers by John Ayuk in
Google Scholar
PubMed
Close
,
Wiebke Arlt Institute of Metabolism and Systems Research, University of Birmingham
Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK
Departments of Endocrinology, University Hospital Birmingham NHS Foundation Trust, Birmingham, UK

Search for other papers by Wiebke Arlt in
Google Scholar
PubMed
Close
, and
Rachel K Crowley St. Vincent’s University Hospital and University College Dublin, Dublin, Ireland

Search for other papers by Rachel K Crowley in
Google Scholar
PubMed
Close

Summary

Context

Adrenal incidentalomas (AI) represent an increasingly common problem in modern endocrine practice. The diagnostic approach to AIs can be challenging and occasionally reveals surprising features. Here we describe two rare cases of complex adrenal lesions consisting of phaeochromocytomas with synchronous metastases from extra-adrenal primaries.

Case descriptions

Patient 1 – a 65-year-old gentleman with a newly diagnosed malignant melanoma was found to harbour an adrenal lesion with suspicious radiographic characteristics. Percutaneous adrenal biopsy was consistent with adrenocortical adenoma. After excision of the skin melanoma and regional lymphatic metastases, he was followed up without imaging. Three years later, he presented with abdominal discomfort and enlargement of his adrenal lesion, associated with high plasma metanephrines. Adrenalectomy revealed a mixed tumour consisting of a large phaeochromocytoma with an embedded melanoma metastasis in its core. Patient 2 – a 63-year-old lady with a history of NF-1-related phaeochromocytoma 20 years ago and previous breast cancer presented with a new adrenal lesion on the contralateral side. Plasma normetanephrine was markedly elevated. Elective adrenalectomy revealed an adrenal tumour consisting of chromaffin cells intermixed with breast carcinoma cells.

Conclusions

Adrenal incidentalomas require careful evaluation to exclude metastatic disease, especially in the context of a history of previous malignancy. Adrenal biopsy provides limited and potentially misleading information. Phaeochromocytomas are highly vascularised tumours that may function as a sieve, extracting and retaining irregularly shaped cancer cells, thereby yielding adrenal masses with intriguing dual pathology.

Learning points:

  • Adrenal incidentalomas require careful evaluation focused on exclusion of underlying hormone excess and malignant pathology.

  • Adrenal biopsy can be misleading and should only be considered in select cases.

  • Phaeochromocytomas harbouring intratumoural metastases from other, extra-adrenal primary malignancies represent rare pathological entities that highlight the complexities that can be presented by adrenal tumours.

Open access
Aoife Garrahy Department of Diabetes and Endocrinology, Mater Misericordiae University Hospital, Dublin 7, Ireland

Search for other papers by Aoife Garrahy in
Google Scholar
PubMed
Close
,
Matilde Bettina Mijares Zamuner Department of Diabetes and Endocrinology, Mater Misericordiae University Hospital, Dublin 7, Ireland

Search for other papers by Matilde Bettina Mijares Zamuner in
Google Scholar
PubMed
Close
, and
Maria M Byrne Department of Diabetes and Endocrinology, Mater Misericordiae University Hospital, Dublin 7, Ireland

Search for other papers by Maria M Byrne in
Google Scholar
PubMed
Close

Summary

Coexistence of autoimmune diabetes and maturity-onset diabetes of the young (MODY) is rare. We report the first case of coexisting latent autoimmune diabetes of adulthood (LADA) and glucokinase (GCK) MODY. A 32-year-old woman was treated with insulin for gestational diabetes at age 32 years; post-partum, her fasting blood glucose was 6.0 mmol/L and 2-h glucose was 11.8 mmol/L following an oral glucose tolerance test, and she was maintained on diet alone. Five years later, a diagnosis of LADA was made when she presented with fasting blood glucose of 20.3 mmol/L and HbA1C 125 mmol/mol (13.6%). GCK-MODY was identified 14 years later when genetic testing was prompted by identification of a mutation in her cousin. Despite multiple daily insulin injections her glycaemic control remained above target and her clinical course has been complicated by multiple episodes of hypoglycaemia with unawareness. Although rare, coexistence of latent autoimmune diabetes of adulthood and monogenic diabetes should be considered if there is a strong clinical suspicion, for example, family history. Hypoglycaemic unawareness developed secondary to frequent episodes of hypoglycaemia using standard glycaemic targets for LADA. This case highlights the importance of setting fasting glucose targets within the expected range for GCK-MODY in subjects with coexisting LADA.

Learning points:

  • We report the first case of coexisting latent autoimmune diabetes of adulthood (LADA) and GCK-MODY.

  • It has been suggested that mutations in GCK may lead to altered counter-regulation and recognition of hypoglycaemia at higher blood glucose levels than patients without such mutation. However, in our case, hypoglycaemic unawareness developed secondary to frequent episodes of hypoglycaemia using standard glycaemic targets for LADA.

  • This case highlights the importance of setting fasting glucose targets within the expected range for GCK-MODY in subjects with coexisting LADA to avoid hypoglycaemia.

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

Search for other papers by Natasha Shrikrishnapalasuriyar in
Google Scholar
PubMed
Close
,
Mirena Noyvirt Department of Diabetes and Endocrinology, Royal Glamorgan Hospital, Llantrisant, UK

Search for other papers by Mirena Noyvirt in
Google Scholar
PubMed
Close
,
Philip Evans Department of Diabetes and Endocrinology, Royal Glamorgan Hospital, Llantrisant, UK

Search for other papers by Philip Evans in
Google Scholar
PubMed
Close
,
Bethan Gibson Department of Intensive Care, Royal Glamorgan Hospital, Llantrisant, UK

Search for other papers by Bethan Gibson in
Google Scholar
PubMed
Close
,
Elin Foden Department of Intensive Care, Royal Glamorgan Hospital, Llantrisant, UK

Search for other papers by Elin Foden in
Google Scholar
PubMed
Close
, and
Atul Kalhan Department of Diabetes and Endocrinology, Royal Glamorgan Hospital, Llantrisant, UK

Search for other papers by Atul Kalhan in
Google Scholar
PubMed
Close

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.

Open access