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Wann Jia Loh, Kesavan Sittampalam, Suan Cheng Tan, and Manju Chandran

-tender hepatomegaly, gynecomastia and bilateral xanthelasma ( Fig. 1 ). Both testes showed diminished testicular volumes. Initial routine laboratory investigations including haemoglobin and haematocrit were normal as was his renal function. There were no electrolyte

Open access

Betty Korljan Jelaska, Sanja Baršić Ostojić, Nina Berović, and Višnja Kokić

of life. Patients present with protuberant abdomen due to hepatomegaly, relatively thin extremities, hypoglycaemia, lactic acidosis, hyperlipidaemia and hyperuricaemia. Trivial events (a short delay in taking a meal or a lower intake of carbohydrates

Open access

G K Dimitriadis, K Gopalakrishnan, R Rao, D K Grammatopoulos, H S Randeva, M O Weickert, and N Murthy

Summary

We report the case of a 70-year-old previously healthy female who presented acutely to the Accident and Emergency department with left-sided vasomotor symptoms including reduced muscle tone, weakness upon walking and slurred speech. Physical examination confirmed hemiparesis with VIIth nerve palsy and profound hepatomegaly. A random glucose was low at 1.7 mmol/l, which upon correction resolved her symptoms. In hindsight, the patient recalled having had similar episodes periodically over the past 3 months to which she did not give much attention. While hospitalized, she continued having episodes of symptomatic hypoglycaemia during most nights, requiring treatment with i.v. dextrose and/or glucagon. Blood tests including insulin and C-peptide were invariably suppressed, in correlation with low glucose. A Synacthen stimulation test was normal (Cort (0′) 390 nmol/l, Cort (30′) 773 nmol/l). A computed tomography scan showed multiple lobulated masses in the abdomen, liver and pelvis. An ultrasound guided biopsy of one of the pelvic masses was performed. Immunohistochemistry supported the diagnosis of a gastrointestinal stromal tumour (GIST) positive for CD34 and CD117. A diagnosis of a non islet cell tumour hypoglycaemia (NICTH) secondary to an IGF2 secreting GIST was confirmed with further biochemical investigations (IGF2=96.5 nmol/l; IGF2:IGF1 ratio 18.9, ULN <10). Treatment with growth hormone resolved the patient's hypoglycaemic symptoms and subsequent targeted therapy with Imatinib was successful in controlling disease progression over an 8-year observation period.

Learning points

  • NICTH can be a rare complication of GISTs that may manifest with severe hypoglycaemia and neuroglucopenic symptoms.
  • NICTH can masquerade as other pathologies thus causing diagnostic confusion.
  • Histological confirmation of GIST induced NICTH and exclusion of other conditions causing hypoglycaemia is essential.
  • Mutational analysis of GISTs should be carried out in all cases as it guides treatment decision.
  • Tailored management of hypoglycaemia, in this case using growth hormone and targeted cyto-reductive therapy, minimizes the risk of possible life-threatening complications.

Open access

Carolina Shalini Singarayar, Foo Siew Hui, Nicholas Cheong, and Goay Swee En

. There was also a systolic murmur over the left sternal edge and a pulsatile hepatomegaly. There were no clinical findings to suggest an underlying connective tissue disease, chronic pulmonary or thromboembolic disorders. She was diagnosed with Graves

Open access

Saurabh Uppal, James Blackburn, Mohammed Didi, Rajeev Shukla, James Hayden, and Senthil Senniappan

. 1 ), hepatomegaly and single earlobe crease) post-delivery. Hypoglycaemia was noted at 2 h of life that persisted despite treatment with high dose intravenous glucose (12 mg/kg/min). Figure 1 Macroglossia. Investigation

Open access

Joanna Prokop, João Estorninho, Sara Marote, Teresa Sabino, Aida Botelho de Sousa, Eduardo Silva, and Ana Agapito

pulmonary auscultation and hepatomegaly. The testicular volume was normal, without palpable masses. No skin changes were noted, like hyperpigmentation of palmar lines, or extension surfaces of elbows or knees or mucosa hyperpigmentation. The neurological

Open access

Sarah W Y Poon, Karen K Y Leung, and Joanna Y L Tung

Summary

Severe hypertriglyceridemia is an endocrine emergency and is associated with acute pancreatitis and hyperviscosity syndrome. We describe an infant with lipoprotein lipase deficiency with severe hypertriglyceridemia who presented with acute pancreatitis. She was managed acutely with fasting and intravenous insulin infusion, followed by low-fat diet with no pharmacological agent. Subsequent follow-up until the age of 5 years showed satisfactory lipid profile and she has normal growth and development.

Learning points:

  • Hypertriglyceridemia-induced acute pancreatitis has significant morbidity and mortality, and prompt treatment is imperative.
  • When no secondary causes are readily identified, genetic evaluation should be pursued in hypertriglyceridemia in children.
  • Intravenous insulin is a safe and effective acute treatment for hypertriglyceridemia in children, even in infants.
  • Long-term management with dietary modifications alone could be effective for primary hypertriglyceridemia due to lipoprotein lipase deficiency, at least in early childhood phase.
Open access

Benjamin G Challis, Nicolai J Wewer Albrechtsen, Vishakha Bansiya, Keith Burling, Peter Barker, Bolette Hartmann, Fiona Gribble, Stephen O'Rahilly, Jens J Holst, and Helen L Simpson

Summary

Pancreatic neuroendocrine tumours (pNETs) secreting proglucagon are associated with phenotypic heterogeneity. Here, we describe two patients with pNETs and varied clinical phenotypes due to differential processing and secretion of proglucagon-derived peptides (PGDPs). Case 1, a 57-year-old woman presented with necrolytic migratory erythema, anorexia, constipation and hyperinsulinaemic hypoglycaemia. She was found to have a grade 1 pNET, small bowel mucosal thickening and hyperglucagonaemia. Somatostatin analogue (SSA) therapy improved appetite, abolished hypoglycaemia and improved the rash. Case 2, a 48-year-old male presented with diabetes mellitus, diarrhoea, weight loss, nausea, vomiting and perineal rash due to a grade 1 metastatic pNET and hyperglucagonaemia. In both cases, plasma levels of all measured PGDPs were elevated and attenuated following SSA therapy. In case 1, there was increased production of intact glucagon-like peptide 1 (GLP-1) and GLP-2, similar to that of the enteroendocrine L cell. In case 2, pancreatic glucagon was elevated due to a pancreatic α-cell-like proglucagon processing profile. In summary, we describe two patients with pNETs and heterogeneous clinical phenotypes due to differential processing and secretion of PGDPs. This is the first description of a patient with symptomatic hyperinsulinaemic hypoglycaemia and marked gastrointestinal dysfunction due to, in part, a proglucagon-expressing pNET.

Learning points

  • PGDPs exhibit a diverse range of biological activities including critical roles in glucose and amino acid metabolism, energy homeostasis and gastrointestinal physiology.
  • The clinical manifestations of proglucagon-expressing tumours may exhibit marked phenotypic variation due to the biochemical heterogeneity of their secreted peptide repertoire.
  • Specific and precise biochemical assessment of individuals with proglucagon-expressing tumours may provide opportunities for improved diagnosis and clinical management.

Open access

María Clemente, Alejandro Vargas, Gema Ariceta, Rosa Martínez, Ariadna Campos, and Diego Yeste

to thrive and mild hepatomegaly (3 cm below the costal margin). Laboratory tests showed high serum transaminase levels (AST 80–90 IU/L, ALT 40–50 IU/L and GGT 60–100 IU/L). Laboratory tests for hepatotropic viruses and autoimmunity were negative

Open access

Takashi Matsuo and Yoshihiko Ushiroda

: diffuse pancreatic enlargement ( Fig. 1 ), with no fatty liver or hepatomegaly; Blood drawn under fasting and continuous infusion of nutrition solution (356kcal/day) confirmed an increased inflammatory response and elevated exocrine pancreatic enzymes