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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 (18F-DOPA-PET/CT) scanning has changed the management of patients with CHI. 18F-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 18F-DOPA-PET/CT, were able to guide the correct clinical management of this condition. We confirm that advances in molecular genetics, imaging methods (18F-DOPA PET-CT), medical therapy, and surgical approach have completely changed the management and improved the outcome of these children. [ABSTRACT FROM AUTHOR]

The aim of this review is to investigate whether changes in olfactory bulb volume relate to changes in specific olfactory functions. We studied currently available peer-reviewed articles on the volume of the human olfactory bulb that also included a psychophysical measure of olfactory function. In the present review, we observed a very clear and consistent correlation between general olfactory function and olfactory bulb (OB) volume. We were not able to find a clear relationship between a specific smell component and OB volume, even when analyzing pathologic conditions separately. In some cases, changes were observed for different subtests, but these changes did not significantly correlate with OB volume or had only a borderline correlation. In other cases, we found contradictory data. Several factors may contribute to the difficulties in finding correlations with the different components of smell: (1) the OB volume may be influenced by information from olfactory receptor neurons (bottom-up effect), information from central nervous system (top-down effect) and by direct damage; (2) most pathologic conditions affect more than one area of the olfactory pathway; (3) small sample sizes of hyposmic subjects were used. We believe that it is necessary to do further studies with larger numbers of subjects to answer the currently investigated question. [ABSTRACT FROM AUTHOR]