Early diagnosis of focal congenital hyperinsulinism: A fluorine-18-labeled l-dihydroxyphenylalanine positron emission tomography/computed tomography study

Abstract

Congenital hyperinsulinism (CHI) is responsible for hyperinsulinemic hypoglycemia which needs aggressive treatment in order to prevent neurological damages. Recent advances in genetics have linked CHI to mutations in many different genes that play a key role in regulating insulin secretion from pancreatic ß-cells. Furthermore, histopathological lesions, diffuse and focal, have been associated with these different genetic alterations. This short manuscript describes how the advent of fluorine-18-labeled L-dihydroxyphenylalanine-positron emission tomography/computed tomography ( 18 F-DOPA-PET/CT) scanning has changed the management of patients with CHI. 18 F-DOPA PET/CT imaging differentiates focal from diffuse disease and is 100% accurate in localizing the focal lesion. In these patients, the lesion can be surgically removed allowing complete resolution of clinical alterations. We report a case in which clinical experience together with rapid genetic analysis and imaging with 18 F-DOPA-PET/CT, were able to guide the correct clinical management of this condition. We confirm that advances in molecular genetics, imaging methods ( 18 F-DOPA PET-CT), medical therapy, and surgical approach have completely changed the management and improved the outcome of these children.

Congenital Hyperinsulinaemic Hypoglycaemia—A Review and Case Presentation

“…Histologically, CHI is divided into limited and diffuse forms, the differentiation of which is important in planning surgical treatment [ 6 , 27 , 30 , 39 , 55 ]. It is important to distinguish between the limited and diffuse forms, as in the former case surgical removal of the lesion offers the possibility of complete cure for the patient [ 6 , 29 , 55 ]. Its forms are rarely hereditary and are usually located in the tail and body, but can also be found in any other part of the pancreas.…”

“…If the location is not reached, a pancreatic tail resection for further histologic evaluation is recommended [ 60 , 61 ]. Treatment consists of the excision of the focal lesion [ 6 , 39 , 55 ]. Laparoscopic removal is the method of choice when the lesion is located in the body or tail.…”

“…Pharmacological treatment is usually insufficient and subtotal pancreatectomy (involving nearly 95–98% of the pancreas) is required for the normalization of glycaemia. Laparoscopy is currently the preferred method [ 6 , 27 , 39 , 55 , 62 ]. Unfortunately, this form of treatment has unsatisfactory results in most cases [ 6 ].…”

“…Their severity is significantly higher in patients with a more severe course of CHI, as determined by maximum doses of diazoxide and early symptoms at <7 days of age [ 66 ]. Neurodevelopmental problems may include sucking and swallowing disorders [ 63 ], speech, language, motor and vision delay, seizures, infantile spasms, lower limb weakness, learning problems during the school years, higher risk of epilepsy in later childhood, and cerebral palsy [ 28 , 55 , 65 ]. These problems result from hypoketotic neuroglycopenia, which causes damage to the central nervous system.…”