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Alvarez, J R F, Rabe, H, Wilichowski, E and Pekrun, A (2006) Pitfalls in the diagnosis of congenital hyperinsulinism: a case report and review of the literature. Klinische Padiatrie, 218 (4). pp. 233-236. ISSN 0300-8630
Full text not available from this repository.Abstract
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.
Patient:
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.
| Item Type: | Article |
|---|---|
| Keywords: | Diagnostic Errors, Diazoxide, Dominance, Cerebral, Epilepsies, Partial, Female, Glutamate Dehydrogenase, Humans, Hyperinsulinism, Hypoglycemia, Infant |
| Schools and Departments: | Brighton and Sussex Medical School > Clinical and Experimental Medicine |
| SWORD Depositor: | Mx Elements Account |
| Depositing User: | Mx Elements Account |
| Date Deposited: | 30 Sep 2022 13:41 |
| Last Modified: | 30 Sep 2022 13:41 |
| URI: | http://sro.sussex.ac.uk/id/eprint/108220 |