RESUMEN
Introduction: Hyperinsulinemic hypoglycaemia (HH) is characterised by unregulated insulin secretion, leading to persistent non-ketotic hypoglycaemia with a lack of alternate fuel that induces a severe risk for brain damage and neurodevelopmental abnormalities. Octreotide, a somatostatin analogue, has been effectively administered as subcutaneous injections or depot preparations in diazoxide-unresponsive HH. Methods: Children and infants with HH receiving short-acting octreotide injections were included. Anthropometric values, hypoglycaemic episodes, HbA1C, and side effects were noted from the records and were followed up for 12 months. Informed written consent was obtained from the parents before administration of a single dose of LAR (long-acting octreotide). Based on home-based glucose monitoring (HBGM), the dosage of LAR was modified, and short-acting octreotide was eventually withdrawn. The patients shared the injection's cost for cost-effectiveness. HH affects the quality of life (QoL) if not diagnosed and controlled adequately. A QoL questionnaire was given before starting LAR and after 6 months of receiving LAR, and the changes were noted accordingly. Results: Twenty-two patients were diagnosed with HH, of which 11 infants and children were included in the study. Mutations were identified in 7 (63.63%) children. Daily octreotide could be tapered and stopped with the addition of sirolimus in one patient with an increasing dose of LAR to maintain euglycaemia. The hypoglycaemic episodes decreased with increasing dose of LAR with a decrease in the severity. Eight (72.7%) patients showed an improved lifestyle on LAR quantified through a QoL questionnaire. Conclusion: LAR was found effective in reducing hypoglycaemic episodes with no adverse effects. The patient's parent's satisfaction was higher. Given its high cost, this trial achieved cost-effectiveness by sharing a single sitting of LAR injection.
RESUMEN
Wolcott-Rallison's syndrome (WRS) is a rare nonautoimmune autosomal recessive disorder characterized by neonatal diabetes mellitus, epiphyseal dysplasia, and growth retardation. This is the most common cause of diabetes mellitus in patients with consanguineous parents. WRS is distinguished from other types of neonatal or early-onset diabetes by clinical characteristics and genetic testing. Here, we report four cases of WRS from South India. All four children reported here were born to consanguineous parents and were diagnosed with neonatal diabetes and skeletal dysplasia. Case 1 is a 13-year-old girl with neonatal diabetes and skeletal dysplasia. Case 2 is a 6-month-old male infant who also has primary hypothyroidism. Case 3 was a girl who lived until the age of 4 years before succumbing to liver failure. Case 4 is an 8-month-old female infant born to a third-degree married couple who presented with neonatal diabetes and diabetic ketoacidosis. Genetic testing revealed that she had WRS, which helps us in the anticipation and early treatment of complications.