| Autor: |
Vandendaele C; Master complémentaire en Pédiatrie, ULiège, Belgique., Kaschten S; Master complémentaire en Pédiatrie, ULiège, Belgique., Parent AS; Service de Pédiatrie, CHU Liège, Belgique., Fudvoye J; Service de Pédiatrie, CHU Liège, Belgique. |
| Jazyk: |
francouzština |
| Zdroj: |
Revue medicale de Liege [Rev Med Liege] 2024 Mar; Vol. 79 (3), pp. 168-174. |
| Abstrakt: |
Congenital hyperinsulinism is the most common cause of recurrent hypoglycemia in newborns and children. Early diagnosis and rapid management are essential to avoid hypoglycaemic brain injury and later neurological complications. Management of those patients involves biological evaluation, molecular genetics, imaging techniques and surgical advances. We report the case of a newborn with recurrent hypoglycemia due to congenital hyperinsulinism (CHI) caused by a new variant in the ABCC8 gene. Fluorine 18-L-3,4 Dihydroxyphenylalanine Positron Emission Tomography (18F-DOPA PET/CT scan) reported a focal lesion at the isthmus of the pancreas which has been removed by laparoscopic surgery with a complete recovery for the patient. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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