[Pitfalls in the diagnosis of congenital hyperinsulinism: a case report and review of the literature].
BACKGROUND
Congenital hyperinsulinism is the most common cause for recurrent hypoglycaemia in neonates and infants. Uncontrolled hypoglycaemia leads to seizures and long-term cerebral damage. Often, the diagnosis is delayed because of nonspecific symptoms and confusing laboratory results.


METHODS
We report a patient with hyperinsulinism who was initially wrongly diagnosed as having idiopathic cerebral convulsions and treated accordingly.


CONCLUSIONS
Diagnosis of congenital hyperinsulinism is based on a strong suspicion and a thorough family history. Normal random blood glucose or random insulin levels are not helpful in excluding this disease.
Fernandez Alvarez
J R
JR
Trevor Mann Baby Unit, Brighton and Sussex University Hospitals NHS Trust, Eastern Road, Brighton BN2 5BE, United Kingdom. joseramon.fernandez-alvarez@bsuh.nhs.uk
Rabe
H
H
Wilichowski
E
E
Pekrun
A
A
D003951:Diagnostic Errors; D003981:Diazoxide / Q000627:therapeutic use; D004292:Dominance, Cerebral / Q000502:physiology; D004828:Epilepsies, Partial / Q000175:diagnosis*; D005260:Female; D005969:Glutamate Dehydrogenase / Q000172:deficiency; D006801:Humans; D006946:Hyperinsulinism / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D007003:Hypoglycemia / Q000175:diagnosis* / Q000235:genetics*; D007223:Infant
D005969:Glutamate Dehydrogenase; D003981:Diazoxide