Childhood dietary intake: Comparison between anorexia nervosa and healthy leanness.

Background: The number of adolescent patients with anorexia nervosa is increasing. In addition, an increase in pre-adolescent patients with premenarchal onset has also been recognized. Detection of the disease in childhood and adolescence, however, is not always easy because the symptoms are not characteristic during this period.

Novel missense mutation in the IGF-I receptor L2 domain results in intrauterine and postnatal growth retardation.

Background: IGFs play key roles in intrauterine and postnatal growth through the IGF-I receptor (IGF-IR). We identified a family bearing a new heterozygous missense mutation at the L2 domain of IGF-IR (R431L).

Method: We analysed the nucleotide sequences of the IGF1R gene of the family.

Late-onset adrenal hypoplasia congenita caused by a novel mutation of the DAX-1 gene.

Mutation in the orphan nuclear receptor DAX-1 gene causes X-linked adrenal hypoplasia congenita (AHC). Affected male children classically suffer a salt-losing crisis and adrenal insufficiency in their early infancy or, in some rare exceptions, with late-onset subtype. We report here a patient manifesting late-onset adrenal hypoplasia congenita caused by the premature truncation of the C-terminus of the DAX-1 molecule, which is essential for its function as a transcriptional repressor.

Laminar cortical necrosis in adrenal crisis: sequential changes on MRI.

We describe the serial magnetic resonance imaging (MRI) findings in a six-year-old girl with congenital adrenal hyperplasia, who presented with seizures and unconsciousness during a hypoadrenal crisis. Initial neuroimaging revealed the presence of brain edema with high signal changes in the fronto-parietal cortex on diffusion-weighted MRI. The brain edema worsened four days into admission, and by day 14 low-density areas were seen over the frontal lobes bilaterally using computed tomography (CT).

Variation analysis of beta3-adrenergic receptor and melanocortin-4 receptor genes in childhood obesity.

Background: Decreased energy expenditure and increased food intake are principal causes for obesity. In the present study, genotypes of beta(3)-adrenergic receptor (beta(3)AR) and of melanocortin-4 receptor (MC4R), both of which are believed to have a close link to the cause of obesity, were analyzed and compared with phenotypes of childhood obesity.

Methods: Thirty-five obese children with moderate to severe obesity were enrolled.

Lower brainstem dysfunction in an infant with persistent primitive trigeminal artery.

A 6-month-old boy with persistent primitive trigeminal artery (PPTA) presented with stridor, dysphagia, delayed motor development and postural neck and shoulder dystonia. Magnetic resonance imaging/angiography and ultrasonography revealed PPTA, with flow from the dilated basilar artery to the right internal carotid artery, lower brainstem compression by the dilated basilar artery, and cerebellar vermis hypoplasia. Evoked potentials showed lower pons and medulla oblongata functional disruption.

Forced mouth opening reaction: a primitive reflex released from cortical inhibition.

We report the case of a 6-year-old girl with congenital adrenal hyperplasia, who showed 'forced mouth opening reaction' during the course of acute encephalopathy due to adrenal crisis. When an object was moved towards her mouth, or when the corner of her mouth was stroked with a tongue depressor, she would immediately open her mouth fully and hold it open. This reaction appeared transiently during the course of her illness in association with other frontal release signs including the rooting, groping and palmomental reflexes.

Mutation at cleavage site of insulin-like growth factor receptor in a short-stature child born with intrauterine growth retardation.

Context: Mouse knockout models have clearly demonstrated the critical importance of IGF-I and IGF receptor type 1 (IGF-IR) for embryonic growth as well as postnatal growth.

Objective: We hypothesized that mutations of IGF-IR gene might predispose to short stature in children born with intrauterine growth retardation (IUGR).

Patients: Twenty-four children with unexplained IUGR (birth weight < -1.

Virilizing Adrenocortical Carcinoma Invading the Right Atrium with Histological High-Grade Malignancy and p53 Mutation in a 3-Year-Old Child: Indication of Post Operative Adjuvant Chemotherapy.

We present a 3-yr-old girl with a virilizing adrenocortical carcinoma invading into the right atrium with histological high-grade malignancy and p53 mutation. Development of facial acne and pubic hair were noted at 3 yr and 2 mo. The levels of androgens were high.

Aplastic anemia during growth hormone (GH) treatment in a girl with idiopathic GH-deficiency.

We report a 12-year-old girl with aplastic anemia accompanied by chromosome 8 trisomy during growth hormone (GH) therapy. When she was six years old she was diagnosed as idiopathic isolated GH deficiency, and GH therapy (0.175 mg/kg/week) was initiated.

Fat areas on the extremities in normal weight and overweight children and adolescents: Comparison between age-related and weight-related changes in adiposity.

The purpose of the study was to compare changes in fat distribution in association with obesity and puberty in adolescent boys and girls. Fat areas at the ulnar, triceps, thigh, and calf regions were measured in normal weight prepubertal children (P) and adolescents (N), and overweight adolescents (O). There were significant differences in fat areas at the four sites between N and O of both sexes, especially in the proximal extremities (triceps, thigh) in boys.

Usefulness of a stature-based standard of skinfold thickness, especially for short children.

Skinfold thicknessess (SFT) were measured at ulnar, triceps, subscapular and suprailiac sites in 730 boys and 724 girls (age 3-12 years) whose stature ranged from 100 to 150 cm and whose weight was within ±20% of the average. Means and standard deviation (SD) were calculated after logarithmic transformation of the original skinfold readings to demonstrate stature-based standards of SFT in Japanese children. The means of SFT exhibited nadirs (boys/ girls: ulnar 5.