Browse

You are looking at 1 - 10 of 30 items for :

  • Country of Treatment x
  • Unique/unexpected symptoms or presentations of a disease x
  • Related Disciplines x
Clear All
Yotsapon Thewjitcharoen Diabetes and Thyroid Center, Theptarin Hospital, Bangkok, Thailand

Search for other papers by Yotsapon Thewjitcharoen in
Google Scholar
PubMed
Close
,
Soontaree Nakasatien Diabetes and Thyroid Center, Theptarin Hospital, Bangkok, Thailand

Search for other papers by Soontaree Nakasatien in
Google Scholar
PubMed
Close
,
Tsz Fung Tsoi Department of Medicine and Therapeutics, Hong Kong Institute of Diabetes and Obesity and Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong SAR, China

Search for other papers by Tsz Fung Tsoi in
Google Scholar
PubMed
Close
,
Cadmon K P Lim Department of Medicine and Therapeutics, Hong Kong Institute of Diabetes and Obesity and Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong SAR, China

Search for other papers by Cadmon K P Lim in
Google Scholar
PubMed
Close
,
Thep Himathongkam Diabetes and Thyroid Center, Theptarin Hospital, Bangkok, Thailand

Search for other papers by Thep Himathongkam in
Google Scholar
PubMed
Close
, and
Juliana C N Chan Department of Medicine and Therapeutics, Hong Kong Institute of Diabetes and Obesity and Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong SAR, China
Asia Diabetes Foundation, Shatin, Hong Kong SAR, China

Search for other papers by Juliana C N Chan in
Google Scholar
PubMed
Close

Summary

Hepatocyte nuclear factor 1β (HNF1B) gene is located on chromosome 17q12. It is a transcription factor implicated in the early embryonic development of multiple organs. HNF1B-associated disease is a multi-system disorder with variable clinical phenotypes. There are increasing reports suggesting that the 17q12 deletion syndrome should be suspected in patients with maturity-onset diabetes of the young type 5 (MODY5) due to the deletion of HNF1B gene. In contrast to classical 17q12 syndrome in childhood with neurological disorders and autism, patients with HNF1B-MODY deletion rarely had neuropsychological disorders or learning disabilities. The diagnosis of 17q12 deletion syndrome highlighted the phenotypic heterogeneity of HNF1B-MODY patients. In this study, we report the clinical course of a Thai woman with young-onset diabetes mellitus and hypertriglyceridemia as a predominant feature due to HNF1B deletion as part of the 17q12 deletion syndrome. Our findings and others suggest that hypertriglyceridemia should be considered a syndromic feature of HNF1B-MODY. Our case also highlights the need to use sequencing with dosage analyses to detect point mutations and copy number variations to avoid missing a whole deletion of HNF1B.

Learning points

  • Maturity-onset diabetes of the young type 5 (MODY5) may be caused by heterozygous point mutations or whole gene deletion of HNF1B. Recent studies revealed that complete deletion of the HNF1B gene may be part of the 17q12 deletion syndrome with multi-system involvement.

  • The length of the deletion can contribute to the phenotypic variability in patients with HNF1B-MODY due to whole gene deletion.

  • Using next-generation sequencing alone to diagnose MODY could miss a whole gene deletion or copy number variations. Specialized detection methods such as microarray analysis or low-pass whole genome sequencing are required to accurately diagnose HNF1B-MODY as a component of the 17q12 deletion syndrome.

  • Molecular diagnosis is necessary to distinguish other acquired cystic kidney diseases in patients with type 2 diabetes which could phenocopy HNF1B-MODY.

  • Hypertriglyceridemia is a possible metabolic feature in patients with HNF1B-MODY due to 17q12 deletion syndrome.

Open access
Matthew J Verheyden Department of Diabetes, Metabolism and Endocrinology, Royal North Shore Hospital, St Leonards, New South Wales, Australia
Cancer Diagnosis and Pathology Group, Kolling Institute, Sydney, New South Wales, Australia
Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia

Search for other papers by Matthew J Verheyden in
Google Scholar
PubMed
Close
,
Natassia Rodrigo Department of Diabetes, Metabolism and Endocrinology, Royal North Shore Hospital, St Leonards, New South Wales, Australia
Cancer Diagnosis and Pathology Group, Kolling Institute, Sydney, New South Wales, Australia
Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia
Department of Diabetes and Endocrinology, Nepean Hospital, Kingswood, New South Wales, Australia

Search for other papers by Natassia Rodrigo in
Google Scholar
PubMed
Close
,
Anthony J Gill Cancer Diagnosis and Pathology Group, Kolling Institute, Sydney, New South Wales, Australia
Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia
NSW Health Pathology, Department of Anatomical Pathology, Royal North Shore Hospital, St Leonards, New South Wales, Australia

Search for other papers by Anthony J Gill in
Google Scholar
PubMed
Close
, and
Sarah J Glastras Department of Diabetes, Metabolism and Endocrinology, Royal North Shore Hospital, St Leonards, New South Wales, Australia
Cancer Diagnosis and Pathology Group, Kolling Institute, Sydney, New South Wales, Australia
Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia

Search for other papers by Sarah J Glastras in
Google Scholar
PubMed
Close

Summary

Necrobiosis lipoidica (NL) is a rare and chronic disease characterised by yellow-brown, atrophic, telangiectatic plaques usually located on the lower extremities, with pathological features of collagen necrobiosis and dermal inflammation. Most cases are seen in those with diabetes mellitus, particularly type 1 diabetes (T1DM), and many without diabetes have evidence of abnormal glucose tolerance or family history of autoimmune disease. In this study, we describe four patients with NL and T1DM. A common theme is late identification and delay in diagnosis. Hence, we discuss the clinical features, need for clinicopathological correlation, and the management and prognostic implications for this distinctive entity. While most remain relatively asymptomatic, others progress to debilitating disease with pruritus, dysesthesia, and pain. Pain is often intense in the presence of ulcerated plaques, a morbid complication of NL. Diagnosis requires the integration of both clinical and histopathological findings. NL has proven a challenging condition to treat, and despite the numerous therapeutic modalities available, there is no standard of care. Hence, in this study, we provide an overview of current management strategies available for NL.

Learning points

  • Necrobiosis lipoidica (NL) is classically seen in patients with type 1 diabetes.

  • Koebner phenomenon, defined as the appearance of new skin lesions on previously unaffected skin secondary to trauma, is a well-recognised feature in NL.

  • Background skin phototype contributes to variable yellow appearance of lesions in NL.

  • Diagnosis of NL requires careful clinicopathological correlation.

  • NL is a chronic disease often refractory to treatment leading to significant morbidity for the patient and a management conundrum for the multidisciplinary healthcare team.

  • No standard therapeutic regimen has been established for the management of NL.

Open access
George Brown Department of Hepatobiliary & Pancreatic Surgery, University Hospital Southampton, Southampton, UK

Search for other papers by George Brown in
Google Scholar
PubMed
Close
,
Anthony Mark Monaghan Department of Hepatobiliary & Pancreatic Surgery, University Hospital Southampton, Southampton, UK

Search for other papers by Anthony Mark Monaghan in
Google Scholar
PubMed
Close
,
Richard Fristedt Department of Hepatobiliary & Pancreatic Surgery, University Hospital Southampton, Southampton, UK

Search for other papers by Richard Fristedt in
Google Scholar
PubMed
Close
,
Emma Ramsey Department of Hepatobiliary & Pancreatic Surgery, University Hospital Southampton, Southampton, UK

Search for other papers by Emma Ramsey in
Google Scholar
PubMed
Close
,
Ma’en Al-Mrayat Department of Endocrinology, University Hospital Southampton, Southampton, UK

Search for other papers by Ma’en Al-Mrayat in
Google Scholar
PubMed
Close
,
Rushda Rajak Department of Cellular Pathology, University Hospital Southampton, Southampton, UK

Search for other papers by Rushda Rajak in
Google Scholar
PubMed
Close
,
Thomas Armstrong Department of Hepatobiliary & Pancreatic Surgery, University Hospital Southampton, Southampton, UK

Search for other papers by Thomas Armstrong in
Google Scholar
PubMed
Close
, and
Arjun Takhar Department of Hepatobiliary & Pancreatic Surgery, University Hospital Southampton, Southampton, UK

Search for other papers by Arjun Takhar in
Google Scholar
PubMed
Close

Summary

Vasoactive intestinal peptide-secreting tumours (VIPomas) are an extremely rare form of functional pancreatic neuroendocrine tumour with an estimated annual incidence of 1 in 10 million. Associated tumour hypersecretion of other peptides, including pancreatic polypeptide (PPomas), may also be seen. These malignancies classically present with a defined triad of refractory diarrhoea, hypokalaemia and metabolic acidosis known as Verner–Morrison syndrome. Diagnosis is frequently delayed, and the majority of patients will have metastatic disease at presentation. Symptoms are usually well controlled with somatostatin analogue administration. Here we report a case of metastatic mixed VIPoma/PPoma-induced diarrhoea causing renal failure so severe that ultrafiltration was required to recover adequate renal function.

Learning points

  • Profuse, watery diarrhoea is a common presenting complaint with a multitude of aetiologies. This, combined with the rarity of these tumours, makes diagnosis difficult and frequently delayed. A functional neuroendocrine tumour should be suspected when diarrhoea is unusually extreme, prolonged and common causes have been promptly excluded.

  • These patients are likely to be profoundly unwell on presentation. They are extremely hypovolaemic with dangerous electrolyte and metabolic abnormalities. Aggressive initial rehydration and electrolyte replacement are imperative. A somatostatin analogue should be commenced as soon as the diagnosis is suspected.

  • This is an extreme example of Verner–Morrison syndrome. We are unaware of another case where renal failure secondary to diarrhoea and dehydration was so severe that renal replacement therapy was required to restore adequate renal function, further emphasising how critically unwell these patients can be.

  • Both the primary tumour and metastases showed a remarkably good and rapid response to somatostatin analogue administration. Cystic change and involution were noted on repeat imaging within days.

  • Prior to his illness, this patient was extremely high functioning with no medical history. His diagnosis was an enormous psychological shock, and the consideration and care for his psychological well-being were a crucial part of his overall management. It highlights the importance of a holistic approach to cancer care and the role of the clinical nurse specialist within the cancer multidisciplinary team.

Open access
Jenny S W Yun Department of Surgical Oncology, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia

Search for other papers by Jenny S W Yun in
Google Scholar
PubMed
Close
,
Chris McCormack Department of Surgical Oncology, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia

Search for other papers by Chris McCormack in
Google Scholar
PubMed
Close
,
Michelle Goh Department of Surgical Oncology, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia

Search for other papers by Michelle Goh in
Google Scholar
PubMed
Close
, and
Cherie Chiang Department of Internal Medicine, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia
University of Melbourne, Parkville, Victoria, Australia

Search for other papers by Cherie Chiang in
Google Scholar
PubMed
Close

Summary

Acanthosis nigricans (AN) is a common dermatosis associated with hyperinsulinemia and insulin resistance. However, AN has been rarely reported in patients with insulinoma, a state of persistent hyperinsulinemia. We present a case of metastatic insulinoma, in whom AN manifested after the first cycle of peptide receptor radionuclide therapy (PRRT). A 40-year-old man was diagnosed with metastatic insulinoma after 5 months of symptomatic hypoglycemia. Within 1 month post PRRT, the patient became euglycemic but developed a pigmented, pruritic rash which was confirmed on biopsy as AN. We discuss the rare manifestation of AN in subjects with insulinoma, the role of insulin in the pathogenesis of AN, malignant AN in non-insulin-secreting malignancies and association with other insulin-resistant endocrinopathies such as acromegaly.

Learning points

  • Acanthosis nigricans (AN) is a common dermatosis which is typically asymptomatic and associated with the hyperinsulinemic state.

  • Malignant AN can rapidly spread, cause pruritus and affect mucosa and the oral cavity.

  • AN is extremely rare in patients with insulinoma despite marked hyperinsulinemia.

  • Peptide receptor radionuclide therapy might have triggered TGF-α secretion in this subject which led to malignant AN.

  • Rapid spread or unusual distribution of pruritic AN warrants further investigation to exclude underlying malignancy.

Open access
Adrian Po Zhu Li Department of Endocrinology ASO/EASO COM, King ’s College Hospital NHS Foundation Trust, Denmark Hill, London, UK

Search for other papers by Adrian Po Zhu Li in
Google Scholar
PubMed
Close
,
Sheela Sathyanarayan Department of Endocrinology ASO/EASO COM, King ’s College Hospital NHS Foundation Trust, Denmark Hill, London, UK

Search for other papers by Sheela Sathyanarayan in
Google Scholar
PubMed
Close
,
Salvador Diaz-Cano Departments of Cellular Pathology and Molecular Pathology, Queen Elizabeth Hospital, Birmingham, UK
Division of Cancer Studies, King’s College London, London, UK

Search for other papers by Salvador Diaz-Cano in
Google Scholar
PubMed
Close
,
Sobia Arshad Department of Endocrinology ASO/EASO COM, King ’s College Hospital NHS Foundation Trust, Denmark Hill, London, UK

Search for other papers by Sobia Arshad in
Google Scholar
PubMed
Close
,
Eftychia E Drakou Department of Clinical Oncology, Guy’s Cancer Centre – Guy’s and St Thomas’ NHS Foundation Trust, Great Maze Pond, London, UK

Search for other papers by Eftychia E Drakou in
Google Scholar
PubMed
Close
,
Royce P Vincent Department of Clinical Biochemistry, King’s College Hospital NHS Foundation Trust, Denmark Hill, London, UK
Faculty of Life Sciences and Medicine, School of Life Course Sciences, King’s College London, London, UK

Search for other papers by Royce P Vincent in
Google Scholar
PubMed
Close
,
Ashley B Grossman Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK
Barts and the London School of Medicine, Centre for Endocrinology, William Harvey Institute, London, UK
Neuroendocrine Tumour Unit, Royal Free Hospital, London, UK

Search for other papers by Ashley B Grossman in
Google Scholar
PubMed
Close
,
Simon J B Aylwin Department of Endocrinology ASO/EASO COM, King ’s College Hospital NHS Foundation Trust, Denmark Hill, London, UK

Search for other papers by Simon J B Aylwin in
Google Scholar
PubMed
Close
, and
Georgios K Dimitriadis Department of Endocrinology ASO/EASO COM, King ’s College Hospital NHS Foundation Trust, Denmark Hill, London, UK
Obesity, Type 2 Diabetes and Immunometabolism Research Group, Department of Diabetes, Faculty of Life Sciences, School of Life Course Sciences, King’s College London, London, UK
Division of Reproductive Health, Warwick Medical School, University of Warwick, Coventry, UK

Search for other papers by Georgios K Dimitriadis in
Google Scholar
PubMed
Close

Summary

A 49-year-old teacher presented to his general physician with lethargy and lower limb weakness. He had noticed polydipsia, polyuria, and had experienced weight loss, albeit with an increase in central adiposity. He had no concomitant illnesses and took no regular medications. He had hypercalcaemia (adjusted calcium: 3.34 mmol/L) with hyperparathyroidism (parathyroid hormone: 356 ng/L) and hypokalaemia (K: 2.7 mmol/L) and was admitted for i.v. potassium replacement. A contrast-enhanced CT chest/abdomen/pelvis scan revealed a well-encapsulated anterior mediastinal mass measuring 17 × 11 cm with central necrosis, compressing rather than invading adjacent structures. A neck ultrasound revealed a 2 cm right inferior parathyroid lesion. On review of CT imaging, the adrenals appeared normal, but a pancreatic lesion was noted adjacent to the uncinate process. His serum cortisol was 2612 nmol/L, and adrenocorticotrophic hormone was elevated at 67 ng/L, followed by inadequate cortisol suppression to 575 nmol/L from an overnight dexamethasone suppression test. His pituitary MRI was normal, with unremarkable remaining anterior pituitary biochemistry. His admission was further complicated by increased urine output to 10 L/24 h and despite three precipitating factors for the development of diabetes insipidus including hypercalcaemia, hypokalaemia, and hypercortisolaemia, due to academic interest, a water deprivation test was conducted. An 18flurodeoxyglucose-PET (FDG-PET) scan demonstrated high avidity of the mediastinal mass with additionally active bilateral superior mediastinal nodes. The pancreatic lesion was not FDG avid. On 68Ga DOTATE-PET scan, the mediastinal mass was moderately avid, and the 32 mm pancreatic uncinate process mass showed significant uptake. Genetic testing confirmed multiple endocrine neoplasia type 1.

Learning points

  • In young patients presenting with primary hyperparathyroidism, clinicians should be alerted to the possibility of other underlying endocrinopathies.

    In patients with multiple endocrine neoplasia type 1 (MEN-1) and ectopic adrenocorticotrophic hormone syndrome (EAS), clinicians should be alerted to the possibility of this originating from a neoplasm above or below the diaphragm.

  • Although relatively rare compared with sporadic cases, thymic carcinoids secondary to MEN-1 may also be associated with EAS.

  • Electrolyte derangement, in particular hypokalaemia and hypercalcaemia, can precipitate mild nephrogenic diabetes insipidus.

Open access
Wann Jia Loh Department of Endocrinology, Changi General Hospital, Singapore, Singapore

Search for other papers by Wann Jia Loh in
Google Scholar
PubMed
Close
,
Lily Mae Dacay Department of Endocrinology, Changi General Hospital, Singapore, Singapore

Search for other papers by Lily Mae Dacay in
Google Scholar
PubMed
Close
,
Clara Si Hua Tan Clinical Research Unit, Khoo Teck Puat Hospital, Singapore, Singapore

Search for other papers by Clara Si Hua Tan in
Google Scholar
PubMed
Close
,
Su Fen Ang Clinical Research Unit, Khoo Teck Puat Hospital, Singapore, Singapore

Search for other papers by Su Fen Ang in
Google Scholar
PubMed
Close
,
Fabian Yap Department of Paediatric Endocrinology, KK Women’s and Children’s Hospital, Singapore, Singapore

Search for other papers by Fabian Yap in
Google Scholar
PubMed
Close
,
Su Chi Lim Clinical Research Unit, Khoo Teck Puat Hospital, Singapore, Singapore
Diabetes Centre, Admiralty Medical Centre, Singapore, Singapore
Saw Swee Hock School of Public Health, National University Hospital, Singapore, Singapore

Search for other papers by Su Chi Lim in
Google Scholar
PubMed
Close
, and
Joan Khoo Department of Endocrinology, Changi General Hospital, Singapore, Singapore

Search for other papers by Joan Khoo in
Google Scholar
PubMed
Close

Summary

Activating mutation of glucokinase gene (GCK) causes resetting of insulin inhibition at a lower glucose threshold causing hyperinsulinaemic hypoglycaemia (GCK-HH). This is the first reported case who tolerated years of regular fasting during Ramadhan, presenting only with seizure and syncope now. We describe a case with GCK gene variant p.T65I diagnosed in a 51-year-old woman with hypoglycaemia unawareness even at glucose level of 1.6 mmol/L. Insulin and C-peptide levels during hypoglycaemia were suggestive of hyperinsulinism, but at a day after intravenous glucagon, hypoglycaemia occurred with low insulin and C-peptide levels, pointing against insulinoma as the underlying aetiology. Imaging studies of the pancreas and calcium arterial stimulation venous sampling were unremarkable. A review of old medical records revealed asymptomatic hypoglycaemia years ago. Genetic testing confirmed activating mutation of GCK. Hypoglycaemia was successfully controlled with a somatostatin analogue. This case highlights the importance of consideration of genetic causes of hypoglycaemia in adulthood, especially when imaging is uninformative.

Learning points

  • Consider genetic causes of endogenous hyperinsulinism hypoglycaemia in adulthood, especially when imaging is uninformative.

  • Late presentation of activating mutation of GCK can occur because of hypoglycaemia unawareness.

  • Long-acting somatostatin analogue may be useful for the treatment of activating mutation of GCK causing hypoglycaemia.

  • Depending on the glucose level when the blood was taken, and the threshold of glucose-stimulated insulin release (GSIR), the serum insulin and C-peptide levels may be raised (hyperinsulinaemic) or low (hypoinsulinaemic) in patients with activating mutation of GCK.

  • Glucagon may be useful to hasten the process of unmasking the low insulin level during hypoglycaemia below the GSIR level of which insulin released is suppressed.

Open access
Kieran Palmer King’s College Hospital National Health Service Foundation Trust, London, UK

Search for other papers by Kieran Palmer in
Google Scholar
PubMed
Close
,
Scott Weerasuriya King’s College Hospital National Health Service Foundation Trust, London, UK

Search for other papers by Scott Weerasuriya in
Google Scholar
PubMed
Close
,
Benjamin Whitelaw King’s College Hospital National Health Service Foundation Trust, London, UK

Search for other papers by Benjamin Whitelaw in
Google Scholar
PubMed
Close
, and
Rajaventhan Srirajaskanthan King’s College Hospital National Health Service Foundation Trust, London, UK

Search for other papers by Rajaventhan Srirajaskanthan in
Google Scholar
PubMed
Close

Summary

We report a rare case of posterior reversible encephalopathy syndrome (PRES), precipitated by ectopic Cushing’s syndrome, in a patient with a metastatic pancreatic neuroendocrine tumour. A 55-year-old female presented as a hypertensive emergency with seizures and severe biochemical disturbance, including alkalosis, hypokalaemia and hyperglycaemia. MRI showed vasogenic oedema in the parieto-occipital region, consistent with a diagnosis of PRES. She had a significantly raised serum cortisol (>6000 nmol/L) which did not suppress with dexamethasone. Plasma adrenocorticotropic hormone (ACTH) concentrations were neither suppressed nor raised but were consistently within the normal reference range. The unexpected finding of a normal ACTH may be explained by either tumour secretion of unmeasured ACTH-related peptides, immunoassay antibody interference or episodic ACTH secretion. PRES is usually reversible with prompt and appropriate treatment. Hypercortisolism associated PRES is rare and may be associated with a worse outcome.

Learning points

  • PRES secondary to ectopic Cushing’s syndrome is very rare.

  • PRES in this context may indicate a worse prognosis.

  • In ectopic Cushing’s syndrome, if the serum ACTH level is normal, consider testing for ACTH-related peptides or interfering antibodies.

  • Further research is required to establish the best treatment approach and to improve patients’ outcomes.

Open access
Seong Keat Cheah Endocrinology, Addenbrookes Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, Cambridgeshire, UK

Search for other papers by Seong Keat Cheah in
Google Scholar
PubMed
Close
,
Chad Ramese Bisambar Endocrinology, Addenbrookes Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, Cambridgeshire, UK

Search for other papers by Chad Ramese Bisambar in
Google Scholar
PubMed
Close
,
Deborah Pitfield Endocrinology, Addenbrookes Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, Cambridgeshire, UK

Search for other papers by Deborah Pitfield in
Google Scholar
PubMed
Close
,
Olivier Giger Pathology, Addenbrookes Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, Cambridgeshire, UK

Search for other papers by Olivier Giger in
Google Scholar
PubMed
Close
,
Rogier ten Hoopen Pathology, Addenbrookes Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, Cambridgeshire, UK

Search for other papers by Rogier ten Hoopen in
Google Scholar
PubMed
Close
,
Jose-Ezequiel Martin Medical Genetics, Addenbrookes Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, Cambridgeshire, UK

Search for other papers by Jose-Ezequiel Martin in
Google Scholar
PubMed
Close
,
Graeme R Clark Medical Genetics, Addenbrookes Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, Cambridgeshire, UK

Search for other papers by Graeme R Clark in
Google Scholar
PubMed
Close
,
Soo-Mi Park Medical Genetics, Addenbrookes Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, Cambridgeshire, UK

Search for other papers by Soo-Mi Park in
Google Scholar
PubMed
Close
,
Craig Parkinson Endocrinology, East Suffolk and North Essex NHS Foundation Trust, Colchester, Essex, UK

Search for other papers by Craig Parkinson in
Google Scholar
PubMed
Close
,
Benjamin G Challis Endocrinology, Addenbrookes Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, Cambridgeshire, UK

Search for other papers by Benjamin G Challis in
Google Scholar
PubMed
Close
, and
Ruth T Casey Endocrinology, Addenbrookes Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, Cambridgeshire, UK
Medical Genetics, Addenbrookes Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, Cambridgeshire, UK

Search for other papers by Ruth T Casey in
Google Scholar
PubMed
Close

Summary

A 38-year-old female was identified as carrying a heterozygous pathogenic MEN1 variant (c.1304delG) through predictive genetic testing, following a diagnosis of familial hyperparathyroidism. Routine screening for parathyroid and pituitary disease was negative. However, cross-sectional imaging by CT revealed a 41 mm pancreatic tail mass. Biopsy via endoscopic ultrasound confirmed the lesion to be a well-differentiated (grade 1) pancreatic neuroendocrine tumour (pNET) with MIB1<1%. Biochemically, hyperinsulinaemic hypoglycaemia was confirmed following an overnight fast, which was subsequently managed by diet alone prior to definitive surgery. Pre-operative work-up with octreotide SPECT CT demonstrated avid tracer uptake in the pancreatic lesion and, unexpectedly, a focal area of uptake in the left breast. Further investigation, and subsequent mastectomy, confirmed ductal carcinoma in situ pT2 (23 mm) grade 1, N0 (ER positive; HER2 negative). Following mastectomy, our patient underwent a successful distal pancreatectomy to resect the pNET. Loss of heterozygosity (LOH) at the MEN1 locus was found in both the breast tumour and pNET, thereby in keeping with a 'two-hit' hypothesis of oncogenesis, a suggestive but non-definitive clue for causation. To obtain further support for a causative relationship between MEN1 and breast cancer, we undertook a detailed review of the published literature which overall supports the notion that breast cancer is a MEN1-related malignancy that presents at a younger age and histologically, is typically of ductal subtype. Currently, clinical guidance regarding breast cancer surveillance in MEN1 does not exist and further research is required to establish a clinical and cost-effective surveillance strategy).

Learning points

  • We describe a case of pNET and breast cancer diagnosed at a young age of 38 years in a patient who is heterozygous for a pathogenic MEN1 variant. Loss of the wild-type allele was seen in both breast tissue and pNET specimen.

  • Breast cancer may be an under-recognised MEN1-associated malignancy that presents at a younger age than in the general population with a relative risk of 2–3.

  • Further research is required to determine the cost-effectiveness of breast cancer surveillance approach at a younger age in MEN1 patients relative to the general population .

Open access
Antonella Corcillo Department of Diabetes and Endocrinology, Guy’s and St Thomas’ NHS Foundation trust, London, UK and School of Cardiovascular Medicine and Sciences, King’s College London UK

Search for other papers by Antonella Corcillo in
Google Scholar
PubMed
Close
,
Zoe Kleinaki European University Cyprus, School of Medicine, Nicosia, Cyprus

Search for other papers by Zoe Kleinaki in
Google Scholar
PubMed
Close
,
Stella Kapnisi European University Cyprus, School of Medicine, Nicosia, Cyprus

Search for other papers by Stella Kapnisi in
Google Scholar
PubMed
Close
,
Nikolaos Fountoulakis Department of Diabetes and Endocrinology, Guy’s and St Thomas’ NHS Foundation trust, London, UK and School of Cardiovascular Medicine and Sciences, King’s College London UK

Search for other papers by Nikolaos Fountoulakis in
Google Scholar
PubMed
Close
,
Giuseppe Maltese Department of Diabetes and Endocrinology, Guy’s and St Thomas’ NHS Foundation trust, London, UK and School of Cardiovascular Medicine and Sciences, King’s College London UK

Search for other papers by Giuseppe Maltese in
Google Scholar
PubMed
Close
,
Stephen M Thomas Department of Diabetes and Endocrinology, Guy’s and St Thomas’ NHS Foundation trust, London, UK and School of Cardiovascular Medicine and Sciences, King’s College London UK

Search for other papers by Stephen M Thomas in
Google Scholar
PubMed
Close
, and
Janaka Karalliedde Department of Diabetes and Endocrinology, Guy’s and St Thomas’ NHS Foundation trust, London, UK and School of Cardiovascular Medicine and Sciences, King’s College London UK

Search for other papers by Janaka Karalliedde in
Google Scholar
PubMed
Close

Summary

A 26-year-old Caucasian female with no past medical history or family history of auto-immune disease presented to the emergency department with new onset painless left foot drop. A panel of blood tests revealed blood glucose of 49.9 mmol/L and raised blood ketone levels. The patient was referred to the diabetes team who made a clinical diagnosis of type 1 diabetes (T1DM) and insulin treatment was initiated. Elevated levels of diabetes auto-antibodies were subsequently detected. Nerve conduction studies demonstrated a left common peroneal nerve lesion with conduction block at the fibular head. After 2 weeks of insulin treatment, a significant improvement of her foot drop was observed and after 8 weeks she was walking normally. The most probable cause of her foot drop was acute diabetic mononeuropathy. To our knowledge, there are no similar cases in adult patients reported in the literature. Our case highlights the importance of physicians being aware of atypical presentation of new onset T1DM.

Learning points:

  • There is an increasing incidence of T1DM with more than half of patients presenting after the age of 20.

  • Diabetic peripheral neuropathy can present both acutely and as a mononeuropathy.

  • Although rare, clinicians should be aware of mononeuropathy as a presenting symptom of T1DM to avoid delay in the treatment initiation.

  • This case highlights an unusual presentation of T1DM and illustrates the importance of the early diagnosis and management of T1DM.

Open access
Anthony Ramos-Yataco National University of San Marcos, Nasca, Perú
Ricardo Cruzado Rivarola Hospital, Nasca, Perú

Search for other papers by Anthony Ramos-Yataco in
Google Scholar
PubMed
Close
,
Kelly Meza Division of Pediatric Nephrology, Department of Pediatrics, Weill Cornell Medicine, New York, USA

Search for other papers by Kelly Meza in
Google Scholar
PubMed
Close
,
Reyna Cecilia Farfán-García Ricardo Cruzado Rivarola Hospital, Nasca, Perú

Search for other papers by Reyna Cecilia Farfán-García in
Google Scholar
PubMed
Close
,
Solange Ortega-Rojas Ricardo Cruzado Rivarola Hospital, Nasca, Perú

Search for other papers by Solange Ortega-Rojas in
Google Scholar
PubMed
Close
,
Isaac Salinas-Mamani Ricardo Cruzado Rivarola Hospital, Nasca, Perú

Search for other papers by Isaac Salinas-Mamani in
Google Scholar
PubMed
Close
,
Ivonne Silva-Arrieta Ontaneda Ricardo Cruzado Rivarola Hospital, Nasca, Perú

Search for other papers by Ivonne Silva-Arrieta Ontaneda in
Google Scholar
PubMed
Close
, and
Ricardo Correa University of Arizona College of Medicine Phoenix and Phoenix VAMC, Phoenix, Arizona, USA

Search for other papers by Ricardo Correa in
Google Scholar
PubMed
Close

Summary

The first case of the novel coronavirus infection (COVID-19) in Peru was reported on March 6, 2020. As of September 7, 2020, about 700 000 cases of COVID-19 resulting in 29,976 deaths have been confirmed by the Ministry of Health. Among COVID-19 patients with co-morbidities, type 2 diabetes mellitus (T2DM) has been recognized as a risk factor for severe disease. Patients with T2DM may experience diabetic ketoacidosis (DKA) and hyperosmolar hyperglycemic (HHS) if infected with the coronavirus 2 (SARS-CoV-2). Regular blood analysis including arterial blood gas is essential in monitoring the care of patients with T2DM infected with COVID-19. We report five cases of DKA in patients with underlying T2DM that presented with severe COVID-19 infection.

Learning points:

  • COVID-19 may cause acute metabolic dysregulations in patients with T2DM.

  • It is important to monitor basic metabolic panel (BMP) and arterial blood gases (ABGs) in patients with COVID-19 since metabolic complications can develop unexpectedly.

  • Patients with T2DM develop an inflammatory syndrome characterized by severe insulin resistance and B cell dysfunction that can lead to DKA.

Open access