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Open access

Ohoud Al Mohareb, Mussa H Al Malki, O Thomas Mueller, and Imad Brema

has five brothers and two sisters, some of whom had children, however, we were unable to screen the full family due to logistic and geographical reasons as they reside outside Saudi Arabia; however, we strongly advised family screening, especially for

Open access

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

Summary

An insulinoma is a rare tumour with an incidence of four cases per million per year in adults. The incidence in children is not established. There is limited literature available in children with insulinoma, and only one case is reported in association with Down’s syndrome in adults. Insulinoma diagnosis is frequently missed in adults as well as in children. The Whipple triad is the most striking feature although it has limited application in young children. Hypoglycaemia with elevated insulin, C-peptide and absent ketones is highly suggestive of hyperinsulinism. We present a case of 10-year-old boy with Down’s syndrome with recurrent insulinoma. He was initially misdiagnosed as having an adrenal insufficiency and developed cushingoid features and obesity secondary to hydrocortisone treatment and excessive sugar intake. The tumour was successfully localised in the head of the pancreas with an MRI and octreotide scan on first presentation. Medical treatment with diazoxide and octreotide could not achieve normal blood glucose levels. The insulinoma was laparoscopically enucleated and pathological examination confirmed a neuroendocrine tumour. Subsequently, he had complete resolution of symptoms. He had a recurrence after 2 years with frequent episodes of hypoglycaemia. The biochemical workup was suggestive of hyperinsulinism. MRI and PET scan confirmed the recurrence at the same site (head of the pancreas). He had an open laparotomy for insulinoma resection. The pathology was consistent with benign insulinoma, and subsequently, he had complete resolution of symptoms.

Learning points:

  • Insulinoma is a very rare tumour in children; it should be considered in the differential diagnosis of hypoglycaemia with absent ketones.
  • Refractory neurological symptoms like seizure, migraine, mood changes and regression of learning abilities should suggest evaluation for hypoglycaemia.
  • MRI with contrast and PET scan would localise the majority of pancreatic beta islet cell lesions.
  • Medical treatment with diazoxide, octreotide and the addition of corn starch in feeds is not curative but can be supportive to maintain normoglycemia until the surgical resection.
  • Surgical resection is the only curative treatment. The surgical procedure of choice (laparoscopic/open laparotomy) depends on local expertise, preoperative localisation, tumour size and number.
  • Surgical treatment results in complete resolution of symptoms, but all cases should be closely followed up to monitor for recurrence. The recurrence rate is four times higher in MEN1 cases.
Open access

Wael M Almistehi and Mussa H Almalki

, the patient became pregnant and was successfully treated with CAB throughout her pregnancy. Case report A 29-year-old Saudi female – married, and a mother of two children – presented with nasal obstruction, secondary amenorrhea, and visual

Open access

Aishah Ekhzaimy, Afshan Masood, Seham Alzahrani, Waleed Al-Ghamdi, Daad Alotaibi, and Muhammad Mujammami

Summary

Central diabetes insipidus (CDI) and several endocrine disorders previously classified as idiopathic are now considered to be of an autoimmune etiology. Dermatomyositis (DM), a rare autoimmune condition characterized by inflammatory myopathy and skin rashes, is also known to affect the gastrointestinal, pulmonary, and rarely the cardiac systems and the joints. The association of CDI and DM is extremely rare. After an extensive literature search and to the best of our knowledge this is the first reported case in literature, we report the case of a 36-year-old male with a history of CDI, who presented to the hospital’s endocrine outpatient clinic for evaluation of a 3-week history of progressive facial rash accompanied by weakness and aching of the muscles.

Learning points:

  • Accurate biochemical diagnosis should always be followed by etiological investigation.
  • This clinical entity usually constitutes a therapeutic challenge, often requiring a multidisciplinary approach for optimal outcome.
  • Dermatomyositis is an important differential diagnosis in patients presenting with proximal muscle weakness.
  • Associated autoimmune conditions should be considered while evaluating patients with dermatomyositis.
  • Dermatomyositis can relapse at any stage, even following a very long period of remission.
  • Maintenance immunosuppressive therapy should be carefully considered in these patients.
Open access

Ilan Rahmani Tzvi-Ran, Judith Olchowski, Merav Fraenkel, Asher Bashiri, and Leonid Barski

patients with Sheehan’s syndrome: a continuing disorder . European Journal of Endocrinology 2014 171 311 – 318 . ( https://doi.org/10.1530/EJE-14-0244 ) 10.1530/EJE-14-0244 24917653 3 Banzal S Ayoola EA Banzal S . Sheehan’s syndrome in Saudi