OBJECTIVE Non-insulinoma pancreatogenous hypoglycemia syndrome (NIPHS) is one of the rare causes of endogenous hyperinsulinism. Its diagnosis is challenging and may require selective intraarterial calcium stimulation and concomitant hepatic vein sampling (SACVS). Impaired counterregulatory hormones' production in response to hypoglycemia has been previously described in patients with diabetes, ...

The medical records of six cases of nesidioblastosis were examined to determine the diagnostic approach, treatment, and neurologic sequelae. All six patients were male, and their ages at the onset of the disease ranged from one day to six months (mean 3.36 +/- 2.5 mo.). Initial clinical features were seizure, cyanosis, poor feeding, and apnea. Other subsequent symptoms were developmental delay,...

OBJECTIVE The aim of our study was to determine the central and peripheral autonomic nervous system profiles underlying anorexia nervosa (AN) syndrome, given that affected patients present with the opposite clinical profile to that seen in the hyperinsulinism syndrome. DESIGN We measured blood pressure and heart rate, as well as circulating neurotransmitters (noradrenaline, adrenaline, dopami...

BACKGROUND Mutation specific effects in monogenic disorders are rare. We describe atypical Fanconi syndrome caused by a specific heterozygous mutation in HNF4A. Heterozygous HNF4A mutations cause a beta cell phenotype of neonatal hyperinsulinism with macrosomia and young onset diabetes. Autosomal dominant idiopathic Fanconi syndrome (a renal proximal tubulopathy) is described but no genetic cau...

UNLABELLED Endogenic hyperinsulinism is mainly caused by neuroendocrine tumors (insulinomas) which autonomously secrete insulin. Because the symptoms are often aspecific, a considerably delay in diagnosis occurs. The treatment consists of operative removal of the tumor from the pancreas, preceded by pre-operative localization. In this article we describe our experience with surgical removal of ...

SUMMARY Poland syndrome (PS) is a rare congenital condition, affecting 1 in 30 000 live births worldwide, characterised by a unilateral absence of the sternal head of the pectoralis major and ipsilateral symbrachydactyly occasionally associated with abnormalities of musculoskeletal structures. A baby girl, born at 40 weeks' gestation with birth weight of 3.33 kg (-0.55 SDS) had typical phenotyp...

The hyperinsulinism/hyperammonemia (HI/HA) syndrome is a form of congenital hyperinsulinism in which affected children have recurrent symptomatic hypoglycemia together with asymptomatic, persistent elevations of plasma ammonium levels. We have shown that the disorder is caused by dominant mutations of the mitochondrial enzyme, glutamate dehydrogenase (GDH), that impair sensitivity to the allost...

We present the unique case of adult hyperinsulinism hyperammonemia syndrome (HI/HA). This condition is rarely seen in children and even more infrequently in adults. A 27-year-old female with HI/HA, generalized tonic-clonic seizures, staring spells, and gastroesophageal reflux disease presented with diffuse abdominal pain, hypoglycemia, confusion, and sweating. She reported a history of signific...

T ype 2 diabetes is a very common metabolic disease and its incidence is increasing rapidly worldwide [1]. Despite fi ve to six decades of extensive investigation, the basic physiologic defect responsible for type 2 diabetes mellitus (T2DM) is still not known. It is now well accepted that T2DM develops when the beta-cell is unable to supply the amount of insulin needed to maintain normal glucos...

Congenital hyperinsulinism (CHI) is a common cause of hypoglycemia in infants. We report three cases of CHI with differing clinical, biochemical, and molecular genetic spectra. One patient was unresponsive to medical treatment and died after subtotal pancreatectomy because of complications due to the surgery. Two patients have been followed successfully with medical treatment. Early diagnosis a...