Insulinoma in childhood: clinical, radiological, molecular and histological aspects of nine patients

Padidela, Raja; Fiest, Miriam; Arya, Vivek; Smith, Virpi V.; Ashworth, Michael; Rampling, Dyanne; Newbould, Melanie; Batra, Gauri; James, Julie; Wright, Neville; Dunne, Mark J.; Clayton, Peter E.; Banerjee, Indraneel; Hussain, Khalid

doi:10.1530/eje-13-1008

Cited by 36 publications

(39 citation statements)

References 24 publications

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“…The most accepted modality of treatment for patient with insulinoma is surgical resection. In the absence of preoperative localization and failed intraoperative detection of an insulinoma, blind pancreatic resection is not recommended [4]. Preoperative tumor localization may require many imaging modalities for avoiding unsuccessful blind pancreatectomy.…”

Section: Discussionmentioning

confidence: 99%

Sporadic Insulinoma as a Rare Cause of Recurrent Hypoglycemia in Children

Saneifard

Tabari

Aghdam

et al. 2017

Case Reports in Pediatrics

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Insulinoma is a rare pancreatic tumor in children and adolescents. As a result of insulin hypersecretion, signs and symptoms are more commonly consequences of the pathophysiologic responses to hypoglycemia. According to rarity of this tumor in children and nonspecificity of clinical presentations, diagnosis of insulinoma in this group of patients is usually delayed. Early diagnosis is very important for preventing neurologic damage. In this case report, we present the case of a 10-year-old boy with signs and symptoms of hypoglycemia and final diagnosis of insulinoma.

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Section: Discussionmentioning

confidence: 99%

Sporadic Insulinoma as a Rare Cause of Recurrent Hypoglycemia in Children

Saneifard

Tabari

Aghdam

et al. 2017

Case Reports in Pediatrics

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“…W.H. Peranteau et al reported 50% (3/6), while R. Padidela et al reported 88% (7/8) correct localisation of the lesion with MRI (2). Octreotide scans have poor detection of insulinoma as they usually do not express enough somatostatin receptors (13).…”

Section: Discussionmentioning

confidence: 99%

“…Octreotide scans have poor detection of insulinoma as they usually do not express enough somatostatin receptors (13). 18F-DOPA is taken up by neuroendocrine cells and used to differentiate between focal and diffuse lesions in congenital hyperinsulinism; 18F-DOPA PET scan is inconsistent in localising insulinoma in children: 100% (3/3) in one series and 50% (2/4) in another (2, 3). Glucagon-like peptide 1 (GLP1) receptor imaging is a new and non-invasive modality, which has shown 100% successful localisation in a small study of six cases (14).…”

Section: Discussionmentioning

confidence: 99%

“…Children presenting with non-ketotic hypoglycaemia should be evaluated for hyperinsulinism, pituitary hormone deficiencies and fatty acid oxidation defects (1). Dysregulated insulin release prevents glycogenolysis, gluconeogenesis, lipolysis and ketogenesis; this leads to neuroglycopenia with an absence of alternative source of energy (ketone bodies) exposing the developing brain to hypoglycaemic injury (2). …”

Section: Introductionmentioning

confidence: 99%

“…Insulinoma is a very rare tumour, and its incidence in children is not estimated. There are only a few case reports in children, and only two case series of eight and nine patients (2, 3) are published in the literature (up to 2016). The incidence in adults is four cases per million per year with a median age of presentation in the late fifth and early sixth decade with a slight female predominance.…”

Section: Introductionmentioning

confidence: 99%

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Recurrent insulinoma in a 10-year-old boy with Down's syndrome

Ahmad

Almutawa

Abubacker

et al. 2017

Endocrinology, Diabetes &Amp; Metabolism Case Reports

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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.

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Unravelling the genetic causes of mosaic islet morphology in congenital hyperinsulinism

Houghton

Banerjee

Shaikh

et al. 2019

The Journal of Pathology CR

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Congenital hyperinsulinism (CHI) causes dysregulated insulin secretion which can lead to life‐threatening hypoglycaemia if not effectively managed. CHI can be sub‐classified into three distinct groups: diffuse, focal and mosaic pancreatic disease. Whilst the underlying causes of diffuse and focal disease have been widely characterised, the genetic basis of mosaic pancreatic disease is not known. To gain new insights into the underlying disease processes of mosaic‐CHI we studied the islet tissue histopathology derived from limited surgical resection from the tail of the pancreas in a patient with CHI. The underlying genetic aetiology was investigated using a combination of high depth next‐generation sequencing, microsatellite analysis and p57kip2 immunostaining. Histopathology of the pancreatic tissue confirmed the presence of a defined area associated with marked islet hypertrophy and a cytoarchitecture distinct from focal CHI but compatible with mosaic CHI localised to a discrete region within the pancreas. Analysis of DNA extracted from the lesion identified a de novo mosaic ABCC8 mutation and mosaic paternal uniparental disomy which were not present in leukocyte DNA or the surrounding unaffected pancreatic tissue. This study provides the first description of two independent disease‐causing somatic genetic events occurring within the pancreas of an individual with localised mosaic CHI. Our findings increase knowledge of the genetic causes of islet disease and provide further insights into the underlying developmental changes associated with β‐cell expansion in CHI.

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Insulinoma in childhood: clinical, radiological, molecular and histological aspects of nine patients

Cited by 36 publications

References 24 publications

Sporadic Insulinoma as a Rare Cause of Recurrent Hypoglycemia in Children

Sporadic Insulinoma as a Rare Cause of Recurrent Hypoglycemia in Children

Recurrent insulinoma in a 10-year-old boy with Down's syndrome

Unravelling the genetic causes of mosaic islet morphology in congenital hyperinsulinism

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