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D Cappellani, C Sardella, M C Campopiano, A Falorni, P Marchetti, and E Macchia

in Japan, but case reports or case series are increasingly being published outside this country and in non-Asian populations. Striking evidences link this syndrome to previous exposure to some medications ( 3 ), including methimazole, glutathione or

Open access

Nina Dauth, Victoria T Mücke, Marcus M Mücke, Christian M Lange, Martin Welker, Stefan Zeuzem, and Klaus Badenhoop

cirrhosis with portal hypertension and splenomegaly. A transcutaneous liver biopsy revealed no evidence for a nutritive toxic liver damage and other common hepatopathies. Hepatic parenchymal copper concentration revealed a high hepatic copper content of 1338

Open access

Alicia R Jones, Alan McNeil, Christopher Yates, Bala Krishnamurthy, and Peter S Hamblin

tumor (GCT); however, other features of GCT on MRI are not specific ( 2 ). Figure 1 MRI brain. (A) Pre- and (B) post-contrast sagittal MRI brain at diagnosis showing thickened, bulbous enhancement of the pituitary stalk which measures 6.2 × 6.0 × 6

Open access

Cliona Small, Aoife M Egan, El Muntasir Elhadi, Michael W O’Reilly, Aine Cunningham, and Francis M Finucane

) ( 3 , 4 ), though some do ( 5 , 6 ). Heterogeneity exists in the approach to diagnosing KPD. Some authorities emphasise adiposity and ethnicity ( 7 ), whereas others consider beta-cell function and markers of beta-cell autoimmunity in assessing the

Open access

H Joshi, M Hikmat, A P Devadass, S O Oyibo, and S V Sagi

hypopituitarism. We present a patient with IgG4-related hypophysitis resulting in anterior hypopituitarism. Case presentation A 39-year-old man of Asian origin, presented with a 4-week history of frontal headache and recent onset double vision. He was

Open access

Nami Mohammadian Khonsari, Benyamin Hakak-Zargar, Tessa Voth, and Shahab Noorian

airtight, moisturizing ointment. Other treatments should be specific to the management of symptoms, such as orthopedic treatment for curvature of the spine. Discussion What makes this case worth studying was the unusual disparity in the severity of

Open access

Ellada Sotiridou, Henrike Hoermann, Sommayya Aftab, Antonia Dastamani, Eva Thimm, Louise Doodson, Spyros Batzios, Sebastian Kummer, and Pratik Shah

Summary

Tyrosinaemia type 1 (TT1) is a rare inherited disorder of amino acid metabolism typically presenting with liver failure and renal tubular dysfunction. We describe three individuals with TT1 and transient hyperinsulinaemic hypoglycaemia (HH). Two siblings with TT1 and acute liver dysfunction were diagnosed with hyperinsulinaemic hypoglycaemia in the neonatal period. Both siblings were successfully treated with diazoxide/chlorthiazide and treatment was gradually weaned and stopped after 8 and 6 months of age respectively. The third patient presented with a neonatal liver failure with mild cholestasis, coagulopathy, fundus haemorrhages, vitamin A and E deficiency and hyperinsulinaemic hypoglycaemia. He maintained euglycaemia on high dose diazoxide (5–12 mg/kg/day) but developed pulmonary hypertension at 12 weeks of age. After discontinuation of diazoxide, he continued maintaining his blood glucose (BG) within the normal range. Although histological abnormalities of the pancreas including beta-cell hyperplasia are well documented, the exact mechanism of excessive insulin secretion in TT1 is not well understood. It may be related to the accumulation of toxic metabolites in the target organs including pancreas. Therefore, in patients with TT1 and persistent hypoglycaemia beyond the recovery of the acute liver failure, it is important to exclude hyperinsulinism which is usually transient and can be successfully treated with diazoxide and chlorothiazide. Further studies are required to determine which factors contribute to excessive insulin secretion in patients with TT1.

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Open access

Daphne Yau, Maria Salomon-Estebanez, Amish Chinoy, John Grainger, Ross J Craigie, Raja Padidela, Mars Skae, Mark J Dunne, Philip G Murray, and Indraneel Banerjee

thrombi identified in the inferior vena cava, common iliac and right common femoral veins on ultrasound scanning. Treatment with low-molecular-weight heparin was commenced on advice from haematology specialists. Other complications included several

Open access

Jin Hui Ho, Ana Vetriana Abd Wahab, Yin Khet Fung, and Serena Sert Kim Khoo

). Rotterdam criteria have been used as diagnostic criteria for PCOS in adults which include (i) oligo- or anovulation, (ii) clinical and/or biochemical signs of hyperandrogenism, (iii) polycystic ovaries and exclusion of other aetiologies such as congenital

Open access

Noman Ahmad, Abdulmonem Mohammed Almutawa, Mohamed Ziyad Abubacker, Hossam Ahmed Elzeftawy, and Osama Abdullah Bawazir

Other investigations showed a normal insulin-like growth factor, HbA1c 4.0%, karyotype 47XY+21 and absence of MEN1 gene mutation. A diagnosis of an insulinoma is confirmed by the presence of elevated insulin and C-peptide associated with non