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Congenital defects of bile acid synthesis are rare disorders that cause progressive liver dysfunction. Prolonged neonatal hyperinsulism (PNH) is a separate entity that leads to persistent hypoglycemia secondary to stress. We present a 4-month-old infant who presented with liver failure secondary to a bile acid synthesis defect. The patient’s liver failure resolved with oral cholic acid therapy. This patient also developed PNH, which slowly resolved over time. This case illustrates a possible relationship between cholestatic liver failure and PNH. This relationship may help define specific stressors that increase the likelihood of developing PNH.

Exendin[9-39] is a glucagon-like peptide-1 receptor (GLP-R) antagonist and a potential therapeutic drug for treatment of congenital hyperinsulism by lowering insulin concentration in plasma. A specific and sensitive LC-MS/MS method was validated for quantification of Exendin[9-39] in human plasma. Exendin[9-39] and the stable isopically labeled internal standard eluted at 9.2 min and were analyzed by single reaction monitoring (SRM) of the transitions m/z 842.9 → 991.8 and 848.2→ 998.8, respectively. The calibration curve was linear in the range 15–1260 ng/mL with a limit of detection of 1.3 ng/mL. The CVs of the standards were 2.7–13.1% within-run and 3.1–13.2% between-run. The matrix effect was >100% and the SPE recovery was 98.4±12.9 percent. In absence of protease inhibitors, short-term stability at room temperature was only one hour. Accordingly, samples were kept on ice and sample processing was kept below one hour. Human plasma samples from a clinical pilot study in which Exendin [9-39] was administered intravenously were analyzed and concentrations up to 600 ng/mL were reported Plasma samples from the study were stored at −80°C with internal standard and successfully reanalyzed after twelve months.

Although PET imaging has been available for more than two decades, its use has greatly increased lately due to the advent of PET/CT, readily available sources of commercially supplied FDG, and mobile scanners. These features have enabled PET scanning to expand beyond select major university medical centers, with on-site cyclotron facilities to smaller institutions including free- standing children's hospitals. In these settings, imaging is generally limited to FDG, which suffices for most applications, with the majority of studies performed for tumor imaging. FDGI is being used for evaluation of many tumors in children, with its use in lymphoma being the most established. In lymphoma, it has proven quite useful in determining whether active tumor is present in residual masses following treatment, which may otherwise contain only residual fibrous tissue. For brain tumors, FDGI has some relation to tumor grade, although its more important role is distinguishing recurrent or residual tumor from the effects of treatment, particularly radiation necrosis. For neurological evaluation, interictal FDGI is helpful in localizing potential seizure foci for subsequent subdural EEG monitoring. Because of the relatively long uptake time of FDG, true ictal studies cannot be performed with FDG, and these remain within the domain of SPECT imaging of tracers such as Tc-99m HMPAO. Examinations utilizing radiopharmaceuticals other than FDG are significantly more limited in their availability and are limited to PET centers with on-site cyclotrons. However, these additional agents open the door to many additional studies, including more specific tumor-imaging agents of certain tumors such as neuroblastoma. Another neurotransmitter, F-18-fluoro-L-dopa, is of benefit outside of the central nervous system for evaluating infantile hyperinsulism. The use of PET/CT in children is increasing quickly, particularly FDGI imaging of tumors. It is expected that over the next few years, its role will become increasingly better defined.

Hypertrichosis in a newborn girl infant of a diabetic mother with congenital hypothyroidism is reported. Both neonatal hyperinsulism and increased testosterone levels were documented. The hypertrichosis resolved after 3 months' of thyroxine replacement treatment. The possible causal association between hypothyroidism, and hypertrichosis has not been previously reported in neonatal period. Thyroid function should be evaluated in all newborn babies with hypertrichosis or abnormal distribution of body hair.

Persistent neonatal hyperinsulinism is the most common cause of refractory hypoglycemia during the first year of life. Inadequate insulin secretion is associated to mutations of four different genes, that can be diagnosed to orient patient management. We report two patients: a female newborn that presented a hypoglycemia of 16 mg/dl two hours after birth, was subjected to a subtotal pancreatectomy that did not correct hypoglycemia, requiring a total pancreatectomy. Pathological study of the pancreas showed a focal adenomatous hyperplasia. At the present time, she is three years of age and maintains euglycemia with fractionated feeding. A male newborn that had seizures at 28 hours of life and a hypoglycemia of 15 mg/dl was detected. He was also subjected to a subtotal pancreatectomy, that did not correct hypoglycemia and had to be extended to a total pancreatectomy. At the present time, he is 3 years and 11 months of age and has a normal psychomotor development (Rev Méd Chile 2004; 132: 995-1000)

It is estimated that as many as 25% of children and 30% of adults in the United States are obese. Clinicians need little reminding of the intractable nature of this disorder and the need for more effective and long-lasting therapies, Obesity in childhood may lay the foundation of the degenerative cardiovascular diseases that may or may not be grossly evident until adulthood. Obese children manifest many of the same disturbances (eg, hyperinsulism, hyperlipidemia, and hypertension) as obese adults. Tracking studies of obesity, hypertension, and serum lipid values from childhood to adulthood have indicated that these variables track well, ie, that the obese, hypertensive, hyperlipidemic child is likely to remain obese, hypertensive, and hyperlipidemic throughout many years. The observation that hyperlipidemia, obesity, and other factors associated with an increased risk of subsequent cardiovascular disease that are noted in childhood tend to persist into adulthood emphasizes the importance of screening in selected children to identify those at risk for subsequent morbidity. Pediatricians should recognize obesity as a significant disease entity with both immediate and long-term consequences. DIAGNOSTIC CRITERIA FOR OBESITY IN CHILDREN Obesity is a maladaptive increase in the amount of energy stored as fat. "Optimal" body fat stores for a given individual depend upon factors such as age, intercurrent health, genotype, and environment.

Acute hypoglycemic episodes complicating an acute attack of gastro-enteritis subsided readily with improvement of the underlying disease. In the absence of an organic cause for hypoglycemic attacks, it is suggested that functional hyperinsulism may exist in a subclinical form to become manifest during a period of mental stress and organic inability to take food.