Familial focal congenital hyperinsulinism.

ABSTRACT:

Background

Congenital hyperinsulinism (CHI) is a cause of persistent hypoglycemia. Histologically, there are two subgroups, diffuse and focal. Focal CHI is a consequence of two independent events, inheritance of a paternal mutation in ABCC8/KCNJ11 and paternal uniparental isodisomy of chromosome 11p15 within the embryonic pancreas, leading to an imbalance in the expression of imprinted genes. The probability of both events occurring within siblings is rare.

Aim

We describe the first familial form of focal CHI in two siblings.

Patients and methods

The proband presented with medically unresponsive CHI. He underwent pancreatic venous sampling and Fluorine-18-L-dihydroxyphenylalanine positron emission tomography scan, which localized a 5-mm focal lesion in the isthmus of

SUBMITTER: Ismail D 

PROVIDER: S-EPMC3217340 | biostudies-literature | 2011 Jan

REPOSITORIES: biostudies-literature