Which are the symptoms?
The onset of the disease almost always occurs in the neonatal period, sometimes during the first year of life, rarely in the older child. Inappropriate insulin secretion is responsible for severe, sometimes uncontrollable, hypoglycemia. Hypoglycemia seizures are a typical mode of presentation in the neonatal period, other symptoms may be hypotonia, lethargy, apneas, tremors, tachycardia, irritability . In later periods, asthenia, cold sweats, palpitations, pallor, tremors, hunger, sensory disturbances are more frequent. The diagnostic confirmation requires an inpatient evaluation and is based on well-defined criteria including the finding of hypoglycemia in the presence of dosable values of insulin and absence of ketones in blood and urine and reduced values of free fatty acids.
How is it diagnosed?
Diagnostic imaging (Fluoro Dopa PET-CT), which is indicated in forms unresponsive to medical therapy, allows to differentiate between diffuse and focal forms. Genetic analysis in some cases identifies the genetic mutation responsible and can provide useful information on clinical and histological features, response to therapy and prognosis.
How is it treated?
Emergency therapy is based on correction of hypoglycemia by administration of intravenous glucose solution. Long-term therapy is based on drugs that reduce insulin secretion (diazoxide, sandostatin, slow-release sandostatin) in association with a diet often supplemented with maltodextrins or complex sugars. The therapy aims to prevent brain damage and promote normal psychomotor development of the child, maintaining the best possible quality of life. In forms unresponsive to medical therapy, it is necessary to resort to surgical therapy.