Tracer Accumulation in Relation to Venous Thrombus on ¹⁸F-DOPA PET/CT in a Case of Persistent Hyperinsulinemic Hypoglycemia of Infancy / 대한핵의학회잡지

¹⁸F-DOPA PET/CT is commonly done in patients with persistent hyperinsulinemic hypoglycemia of infancy (PHHI) to look for any focal lesion in the pancreas.We present the findings in a 20-day-old neonate with PHHI who underwent ¹⁸F-DOPA PET/CT. The scan showed diffuse uptake in the pancreas with no focal lesion, physiologic excretion into the genito-urinary system, and interestingly tracer accumulation was seen in the inferior vena cava and ilio-femoral veins which is a non-physiological site for tracer accumulation. The uptake corresponded to a large venous thrombus which was confirmed by a venous Doppler.

Nesidioblastosis: hipoglucemia hiperinsulinémica persistente en la infancia / Nesidioblastosis: persistent hyperinsulinemic hypoglycemia in the childhood

Se presentan 2 casos clínicos de recién nacidas que, entre otros síntomas, presentaron cifras bajas de glucemia mantenidas (menores 2,2 mmol/L), por lo que fueron evaluadas en el Servicio de Endocrinología del Hospital Provincial Pediátrico Docente "Eduardo Agramonte Piña" de Camagüey, donde se les diagnosticó nesidioblastosis -- hipoglucemia neonatal persistente --. En una de las pacientes el tratamiento médico resultó favorable, pero en la otra fue necesario realizar la pancreatectomía subtotal. Actualmente ambas afectadas reciben esquemas terapéuticos adecuados a sus necesidades clínicas.

Two case reports of female newborns are presented who, among other symptoms, presented with low concentrations of maintained glucemia (lower than 2,2 mmol/L), so they were evaluated in the Endocrinology Service of "Eduardo Agramonte Piña" Teaching Pediatric Provincial Hospital in Camagüey, where they were diagnosed nesidioblastosis -- persistent neonatal hypoglycemia --. In one of the patients the medical treatment was favorable, but in the other it was necessary to carry out a subtotal pancreatectomy. At present both patients receive therapeutic schedules adjusted to their clinical needs.

Clinical Outcome after Pancreatectomy in Patients with Persistent Hyperinsulinemic Hypoglycemia of Infancy / 대한소아내분비학회지

PURPOSE: The purpose of this study was to describe the clinical outcome after pancreatcetmy and its relationship with pathological appearances and clinical features in patients with persistent hyperinsulinemic hypoglycemia of infancy(PHHI). METHODS: Medical records of 10 patients(9 males and 1 female, mean age:40.4+/-1.5 months) who were diagnosed as PHHI and underwent pancreatectomy from 1988 to 2000 were reviewed. Clincal and biochemical data were recorded. Subjects were classified arbitrarily into early-onset or late-onset group according to age of onset. Pathologic appearance of pancreas was divided into 2 forms:diffuse or focal. The former had a focal pancreatic adenomatous hyperplasia and the latter was characterized by increased number of betacells with similar distribution seen in normal neonates. RESULTS: One patient had focal, and nine had diffuse lesions. After near-total pancreatectomy, 4 patients(40.0%) showed complete response, 4(40.0%) had persistent hypoglycemia, and 2(20.0%) developed diabetes mellitus. As neurological sequelae, 6 patients(60.0%) had persistent seizures, and 6(60.0%) had delayed motor and speech development. No clinical or biochemical factors related to postoperative outcome were found. CONCLUSION: This data indicate that early diagnosis of patients who present with hypoglycemic symptoms in infancy, especially early in life, and development of more effective therapy are warranted, because there is no clinical or biochemical factor predicting final outcome after near-total pancreatectomy and only 40% of patients with PHHI remained euglycemic after surgery with possible severe neurological sequelae.

Medical Therapy in Children with Persistent Hyperinsulinemic Hypoglycemia of Infancy(PHHI)

PURPOSE: Persistent hyperinsulinemic hypoglycemia of infancy(PHHI), which is characterised by inappropriate insulin secretion in spite of hypoglycemia, needs urgent treatment to prevent cerebral hypoglycemic damage. Although pancreatectomy is the treatment of choice for PHHI, there are several complications which follow treatment. We suggest that aggressive medical therapy, when effective, is preferable to partial pancreatectomy. METHODS: We evaluated 8 patients with PHHI admitted to the Department of Pediatrics, Samsung Medical Center from November 1996 to January 1999. Children with hypoglycemia in the range of 3-50mg/dl were included. Octreotide was administered at dosage of 100-150 microgram/day. When the patients did not respond to octreotide, diazoxide and nifedipine were given in addition. RESULTS: In four of eight patients, octreotide was discontinued after 15 to 165 days. One patient was given diazoxide instead. The remaining 3 patients are still being treated with octreotide. CONCLUSION: We believe that maximum effort should be made to attain euglycemia with medication, and pancreatectomy should be reserved for patients in whom these measures fail to restore normoglycemia.

Nesidioblastosis in Neonate with Persistent Hyperinsulinemic Hypoglycemia / 대한소아내분비학회지

Nesidioblastosis, also known as persistent hyperinsulinemic hypoglycemia of infancy(PHHI) or familial hyperinsulinsm, is the most common cause of recurrent severe hypoglycemia in infancy. It is an autosomal recessive disorder characterized by irregular insulin secretion leading to inappropriately raised plasma insulin concentration compared to blood glucose levels. Recently, mutations in the sulfonylurea receptor(SUR) have been described in association with PHHI. The mainstay of medical treatment is glucose infusion and diazoxide or long acting somatostatin. If medical treatment fails in preventing hypoglycemia, near total pancreatectomy is recommended. We report one case of nesidioblastosis cured by near total pancreatectomy with brief review of literatures.

A study on nesidioblastosis in hyperinsulinemic hypoglycemia: diagnosis, treatment, and neurologic sequelae

The medical records of six cases of nesidioblastosis were examined to determine the diagnostic approach, treatment, and neurologic sequelae. All six patients were male, and their ages at the onset of the disease ranged from one day to six months (mean 3.36 +/- 2.5 mo.). Initial clinical features were seizure, cyanosis, poor feeding, and apnea. Other subsequent symptoms were developmental delay, hyperactivity, and cold sweating. The Birth weight of the neonatal onset group was heavier than the postneonatal onset group (4.4 +/- 0.3 vs 3.26 +/- 0.04 kg). Before the diagnosis of hyperinsulinism, steroids of ACTH proved effective for seizure control. Initially, hyperinsulinemia (serum insulin greater than 10 microU/ml) was detected in four cases, but another two cases also showed hyperinsulinism by insulin/glucose(I/G) ratio greater than 0.3 during the fasting test. The glucagon response performed in 2 cases, showed normal and partial responses. Euglycemia was obtained by near total pancreatectomy (95% pancreatic resection)without malabsorption or persistent diabetes. In one case, nesidioblastoma coexisted with nesidioblastosis. Developmental delay was noted in three cases. In this group, the mean duration between symptom onset and operation was longer than the group without developmental delay (1.25 +/- 0.47 vs 0.38 +/- 0.19 yr).

Molecular defects in persistent hyperinsulinemic hypoglycemia in infants / 中华内分泌代谢杂志

Persistent hyperinsulinemic hypoglycemia in infants is one of the most common causes of persistent hypoglycemia in infants. The knowledge of molecular defects leading to persistent hyperinsulinemic hypoglycemia in infants has been rapidly growing in recent years. According to the responsible genes, this ailment can be divided into five types. However, no molecular defect can be yet found in as many as 50% of the patients.