PubMed · 5058812
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F Wolff. 1972-03-16. Diazoxide misunderstood.. https://doi.org/10.1056/nejm197203162861128
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Hyperinsulinism-hyperammonemia syndrome is characterized by recurrent and symptomatic hypoglycemias in childhood, secondary to hyperinsulinism associated with mild and asymptomatic hyperammonemia. This syndrome is caused by dominantly expressed mutations of the glutamate dehydrogenase gene (10q23.3). These mutations modify control of enzyme activity and represent the second cause of congenital hyperinsulinism of known genetic etiology. Moreover, this syndrome is the first genetic disorder due to an increase of function in an enzyme of intermediary metabolism to have been identified. We present the case of a 16-month-old boy with symptomatic recurrent hypoglycemias from the end of the first year of life, caused by a de novo mutation in exon 7 (G979A) of the GDH gene, with excellent outcome after diazoxide treatment.
An 18-month-old boy developed seizures at 3 months of age. He developed normally and, his EEG and brain CT revealed no abnormal findings. The blood sugar level was normal at that time, thus he was diagnosed as having benign infantile convulsion. At 7 months of age seizures reappeared, and hypoglycaemia associated with hyperinsulinism was observed during the seizures. With conservative therapy his blood sugar level was well controlled and he had no further seizures. Hypoglycaemic seizures are sometimes misdiagnosed as epilepsy. We have to pay attention to hyperinsulinemic hypoglycaemia when we see seizures with normal EEG even in infants.
Congenital hyperinsulinism (CI) is the most important cause of hypoglycaemia in early infancy. The inappropriate oversecretion of insulin is responsible for profound hypoglycaemias which require aggressive treatment to prevent severe and irreversible brain damage. Hypoglycaemia have a neonatal or infancy onset. Medical treatment with diazoxide is first used to treat CI, but patients who are medically resistant (mostly of neonatal-onset) require pancreatectomy. CI is a heterogeneous disorder with two histopathological lesions, diffuse and focal which are clinically indistinguishable. Only diazoxide-sensitive neonates should be orientated to transient hyperinsulinism or hyperinsulinism-hyperammonemia syndrome. Focal CI is characterized by a sporadic somatic islet-cell hyperplasia. Diffuse CI corresponds to a functional abnormality of insulin secretion in the whole pancreas and involves several genes with different transmissions. The knowledge of both focal and diffuse lesions is very important. Focal lesions are effectively treated by limited pancreatic resection while diffuse lesions which are unresponsive to drug or dietary treatment require extensive pancreatectomy with high risk of diabetes mellitus.