Vincristine for successful treatment of steroid-dependent infantile hemangiomas.

Infantile hemangiomas (IHs) are common, although systemic therapy has been generally limited to circumstances of potential compromise of vital functions (airway, vision, feeding, or cardiac), risk of disfigurement, or bleeding. IHs have previously been shown to express high levels of type III deiodinase, which catabolizes active thyroid hormone, resulting in a state of severe hypothyroidism, termed "consumptive hypothyroidism." We describe an infant with diffuse hepatic hemangiomas who developed consumptive hypothyroidism who was initially treated successfully with systemic glucocorticoids and β-blockers.

Hyperinsulinemic hypoglycemia: think of hyperinsulinism/hyperammonemia (HI/HA) syndrome caused by mutations in the GLUD1 gene.

Background: Hyperinsulinism-hyperammonemia syndrome (HI/HA) is a rare autosomal dominant disorder presenting with hypoglycemia and hyperammonemia. It is caused by activating mutations in the GLUD1 gene.

Case Reports: Three patients from two different centers, a 14-month-old female, a 28-year-old female (mother of the first patient) from Toronto and an unrelated 2.

Emergency department ondansetron use in children with type 1 diabetes mellitus and vomiting.

Objective: To assess the hypothesis that ondansetron administration to children with type 1 diabetes mellitus (T1DM) presenting for emergency department (ED) care with intercurrent illness and vomiting improves clinical outcomes by reducing hospitalization rates (primary), length of ED stay, intravenous fluid (IVF) administration, and revisits (secondary outcomes).

Study Design: We conducted a single-center, 10-year retrospective cohort study of 345 ED encounters of children aged 6 months-8 years with T1DM and vomiting. We compared outcomes among children receiving and not receiving ondansetron.

Identification and functional characterization of three NoLS (nucleolar localisation signals) mutations of the CDC73 gene.

Hyperparathyroidism Jaw-Tumour Syndrome (HPT-JT) is characterized by primary hyperparathyroidism (PHPT), maxillary/mandible ossifying fibromas and by parathyroid carcinoma in 15% of cases. Inactivating mutations of the tumour suppressor CDC73/HRPT2 gene have been found in HPT-JT patients and also as genetic determinants of sporadic parathyroid carcinoma/atypical adenomas and, rarely, typical adenomas, in familial PHPT. Here we report the genetic and molecular analysis of the CDC73/HRPT2 gene in three patients affected by PHPT due to atypical and typical parathyroid adenomas, in one case belonging to familial PHPT.

From diarrhea to obesity in prohormone convertase 1/3 deficiency: age-dependent clinical, pathologic, and enteroendocrine characteristics.

Goals: The aim of this report is to delineate the clinical, pathologic, and enteroendocrine (EE) features of prohormone convertase 1/3 (PC1/3) deficiency in children.

Background: Prohormone convertases play a pivotal role in the activation of biologically inactive hormones. Congenital defects in the EE axis, such as PC1/3 deficiency, have been rarely reported and their pathophysiological mechanisms are largely unknown.

Neuroendocrine tumor in liver with positive ACTH receptor: a case report.

A rare case of possible primary ectopic adrenocorticotropic hormone (ACTH)-producing tumor in the liver mimicking a liver hemangioma is reported. A 9-year-old boy, with Cushing syndrome, was referred for the assessment of ectopic ACTH-producing tumor. Ultrasound, CT scan, and MRI of the abdomen revealed a liver lesion suggestive of a hemangioma.

Early-onset, severe lipoatrophy in a patient with permanent neonatal diabetes mellitus secondary to a recessive mutation in the INS gene.

We describe a case of neonatal diabetes due to a homozygous mutation (c.3 G>T) at the INS gene, leading to lack of insulin expression and severe hyperglycemia from day one of life requiring permanent insulin replacement therapy. The genetic loss of endogenous insulin production likely led to lack of immune tolerance to insulin, with resultant autoantibody production against exogenous insulin and progressive immune-mediated lipoatrophy at injection sites.

Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis.

Heterozygous coding mutations in the INS gene that encodes preproinsulin were recently shown to be an important cause of permanent neonatal diabetes. These dominantly acting mutations prevent normal folding of proinsulin, which leads to beta-cell death through endoplasmic reticulum stress and apoptosis. We now report 10 different recessive INS mutations in 15 probands with neonatal diabetes.

Necrotizing fasciitis in adolescents with poorly controlled type 1 diabetes mellitus: report of two cases.

Necrotizing fasciitis (NF) is a potentially fatal bacterial infection of the subcutaneous soft tissues. Two cases of polymicrobial NF in adolescents with type 1 diabetes mellitus and poor glycemic control are reported. The perineal region was involved in both cases.

Insulin analogues in children and teens with type 1 diabetes: advantages and caveats.

This article reviews the advantages to and caveats of the use of newer insulin formulations (insulin analogues) and regimens in children and teens who have type 1 diabetes, their affect on glycemic control, frequency of hypoglycemic events, daily insulin requirements, and adverse affects such as excessive weight gain, which provides a further major challenge in adolescents. We also address briefly the use of adjunctive agents in the treatment of type 1 diabetes in children and teens.

Continuous glucose monitoring in adolescents with cystic fibrosis.

The presence of cystic fibrosis (CF)-related diabetes was evaluated in 19 adolescents with CF by continuous glucose monitoring system (CGMS) and oral glucose tolerance testing. CGMS confirmed diabetic glucose excursions in 7/19 subjects deemed diabetic on oral glucose tolerance testing. CGMS is a useful tool for detecting hyperglycemia in CF.

Self-monitoring of blood glucose in children and teens with diabetes.

Improved metabolic control has unequivocally been demonstrated to delay the onset and slow the progression of microvascular complications in adolescents and adults with diabetes mellitus. Growing evidence also supports the association of tighter glucose control and more frequent blood glucose monitoring. Therefore, self-monitoring of blood glucose (SMBG) has become a fundamental part of diabetes care in children.

Development of contrast sensitivity in infants with prenatal and neonatal thyroid hormone insufficiencies.

Thyroid hormone is essential for normal brain development including structures critical for visual processing. While chick and rodent models have demonstrated abnormal visual development following prenatal thyroid hormone loss, comparable data do not exist in the human. To determine whether human infants with intrauterine and early postnatal thyroid hormone insufficiencies have compromised visual abilities, we investigated contrast sensitivity and visual acuity development in 13 infant offspring of women with hypothyroidism during pregnancy (HYPO), 16 preterm infants born between 32 and 35 weeks gestation, 12 infants with congenital hypothyroidism (CH), and 20 typically developing infants.

Continuous subcutaneous insulin infusion pump treatment in children with type 1 diabetes mellitus.

Data were reviewed from 73 consecutive medical charts of children and adolescents with type 1 diabetes mellitus using insulin pumps for more than 6 months at The Hospital for Sick Children, Toronto, Canada. Statistically significant differences in HbA1c (-0.8%), body mass index (+1.

Spontaneous regression of severe acquired infantile hypothyroidism associated with multiple liver hemangiomas.

A 9-week-old infant presented with severe postnatal hypothyroidism. His hypothyroidism corrected only after his L-thyroxine dose was progressively increased to 28 micro g/kg/d. At 6 months of age, multiple clinically asymptomatic hepatic hemangiomas were detected and support a diagnosis of consumptive hypothyroidism as a result of increased type 3 iodothyronine deiodinase activity in the hemangiomas.