Beta cells are unique cells in the pancreas that produce, store and release insulin. Here, we are reporting two contrasting cases, involving these beta cells, where at one end of the spectrum there is decrease insulin production, while on the other hand there is excessive insulin production.Methods
Case 1: A 14 day old term male child, large for gestational age (birth weight- 4.5 kg) presented with recurrent hypoglycaemia. On examination, the child was lethargic and hypoglycemic. The child was started on intravenous fluids. With the urine ketones being negative a critical sample was drawn at the time of hypoglycemia (RBS- 30 mg), which revealed insulin levels of 19.70 uIU/ml, cortisol levels of 11.08 ug/dl hGH levels of 12.90. With inappropriately high insulin and insulin (uIU/ml): glucose (mg/dl) ratio of 0.6 the child was diagnosed with persistent hyperinsulinemic hypoglycemia of infancy (PHIH). DOTA NOC PET CT scan showed mild diffuse DOTA NOC uptake in the pancreas more in the tail region of the pancreas ?nesidioblastosis. The child was started on diazoxide, and near total pancreatectomy was done later.Methods
Case 2: A 5 month old female child was brought with complaints of multiple episodes of multi-focal tonic clonic seizures for the last 1 day. On routine investigations, patient had persistent hyperglycemia. Other investigations including CSF examination, liver and kidney function tests, skull ultrasound and serum electrolytes were within normal limit. Her C-peptide levels were inappropriately low (<0.30 ng/mL). Blood samples were sent to Royal Devon and Exeter NHS foundation trust, Exeter, UK, for genetic testing. She was found to be homozygous for a novel EIF2AK3 missense mutation, p.R1064Q (c.3191G>A), in exon 17. This mutation has never been reported before, but it affects a highly conserved nucleotide and in silico evidence suggest that it is likely to be pathogenic. This result is consistent with a diagnosis of Wolcott Rallison syndrome. Both the parents were found to be heterozygous.Results
Two absolutely contrasting cases of beta cell disorders are being described.Conclusions
Beta cells plays an important role in glucose metabolism in the body, and their defects may produce contrasting clinical conditions.