Harlequin syndrome in a pediatric population: a case series.

Harlequin syndrome is a rare condition, presenting with unilateral facial flushing and hyperhidrosis in response to physical exercise, heat or emotional stressors and has scarcely been reported in pediatric patients. It is caused by a dysfunction of vasomotor and sudomotor sympathetic fiber activity inhibiting the ability to flush on the affected side, causing the neurologically intact side to appear red. We present three pediatric cases of this uncommon syndrome, each of them of different origin and displaying distinct associated (neurological) symptoms, and review medical literature. Insight into the anatomical structure of the thoracocervical and facial sympathetic nervous system is pivotal as it dictates symptomatology. About half of Harlequin syndrome cases are complicated with ocular symptoms and a minority may be part of more extensive partial dysautonomias affecting facial sudomotor, vasomotor and pupillary responses, such as Holmes-Adie syndrome and Ross syndrome. Etiology is generally idiopathic, however, cases secondary to surgery, trauma or infection have been described. Considering its predominantly self-limiting nature, treatment is usually unnecessary and should be restricted to incapacitating cases.

Congenital glucose-galactose malabsorption: a novel deletion within the SLC5A1 gene.

Glucose-galactose malabsorption (GGM) is an autosomal recessive disease caused by mutations in the Na(+)/glucose cotransporter gene SLC5A1 (OMIM 182380, phenotype number 606824). Patients with GGM present with neonatal onset of severe life-threatening diarrhoea and dehydration. We describe a 5-day-old girl with the typical clinical course of GGM. Our clinical diagnosis was confirmed by an abnormal chromatography of the stool and normal small bowel biopsies. Mutation analysis revealed a novel, homozygous deletion within exon 10 of the SLC5A1 gene, i.e. c.1107_1109 del AGT.

Simple mental addition in children with and without mild mental retardation.

The speeded performance on simple mental addition problems of 6- and 7-year-old children with and without mild mental retardation is modeled from a person perspective and an item perspective. On the person side, it was found that a single cognitive dimension spanned the performance differences between the two ability groups. However, a discontinuity, or "jump," was observed in the performance of the normal ability group on the easier items. On the item side, the addition problems were almost perfectly ordered in difficulty according to their problem size. Differences in difficulty were explained by factors related to the difficulty of executing nonretrieval strategies. All findings were interpreted within the framework of Siegler's (e.g., R. S. Siegler & C. Shipley, 1995) model of children's strategy choices in arithmetic. Models from item response theory were used to test the hypotheses.