AI Article Synopsis

  • Hyperinsulinaemic hypoglycaemia (HH) is a common cause of persistent low blood sugar in infants, often triggered by congenital hyperinsulinism (CHI) which presents mostly in early infancy with a variety of symptoms, including poor feeding and seizures.
  • Diagnosis of CHI involves low plasma glucose levels paired with detectable insulin and C-peptide, and advanced imaging like (18)F-DOPA PET is used to determine the specific type of HH.
  • Treatment primarily involves diazoxide, but some patients may not respond and alternative medications or surgical options may be necessary.

Article Abstract

Hyperinsulinaemic hypoglycaemia (HH) is the most common cause of persistent hypoglycaemia in infants and children with incidence estimated at 1 per 50,000 live births. Congenital hyperinsulinism (CHI) is symptomatic mostly in early infancy and the neonatal period. Symptoms range from ones that are unspecific, such as poor feeding, lethargy, irritability, apnoea and hypothermia, to more serious symptoms, such as seizures and coma. During clinical examination, newborns present cardiomyopathy and hepatomegaly. The diagnosis of CHI is based on plasma glucose levels <54 mg/dL with detectable serum insulin and C-peptide, accompanied by suppressed or low serum ketone bodies and free fatty acids. The gold standard in determining the form of HH is fluorine-18-dihydroxyphenyloalanine PET ((18)F-DOPA PET). The first-line treatment of CHI is diazoxide, although patients with homozygous or compound heterozygous recessive mutations responsible for diffuse forms of CHI remain resistant to this therapy. The second-line drug is the somatostatin analogue octreotide. Other therapeutic options include lanreotide, glucagon, acarbose, sirolimus and everolimus. Surgery is required in cases unresponsive to pharmacological treatment. Focal lesionectomy or near-total pancreatectomy is performed in focal and diffuse forms of CHI, respectively. To prove how difficult the diagnosis and management of CHI is, we present a case of a patient admitted to our hospital.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9604599PMC
http://dx.doi.org/10.3390/jcm11206020DOI Listing

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