These results confirmed the presence of autonomic dysregulation in children with breath-holding spells. Iron deficiency may have an impact on this autonomic dysregulation. Ventricular repolarization was unaffected in patients with breath-holding spells.

KCC3 mutations in exon 22 constitute a recurrent mutation site for hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), regardless of ethnic origin, and are the most common cause of HMSN/ACC in the non-French Canadian (FC) families analyzed so far. Therefore, for genetic analysis, exon 22 screening should be prioritized in non-FC populations. Finally, the R1011X mutation leads to the abrogation of KCC3's function in Xenopus laevis oocytes, likely due to impaired transit of the cotransporter.

To the authors' knowledge, this is the first published report of the disease with psychotic symptoms. The contribution of basal ganglia, with their wide projections, to the emergence of psychotic symptoms was discussed.

The thrombotic risk of carrying plasminogen activator inhibitor-1-675 4G allele was found to be controversial in previous studies. The aim of this study was to evaluate the possible effect of plasminogen activator inhibitor-1 4G/5G polymorphism in the pathogenesis of childhood stroke. The case-control study included 43 patients with cerebral infarct who were below the age of 18 years (range, 10 months to 18 years) and 113 healthy unrelated individuals without family histories of thrombosis. Plasminogen activator inhibitor-1 4G/5G polymorphism was analyzed according to a previously described method. There was no statistically significant difference in patient and control groups for the distribution of plasminogen activator inhibitor-1 4G/5G polymorphism (P = .75) (allele frequency 4G controls: 0.50; patients: 0.53). However, there was a significant difference for the factor V (FV) 1691 A mutation for both groups (P = .0007).

Vascular malformations are infrequent causes of aqueductal stenoses, developmental venous anomaly (DVA) being the rarest among them. DVAs, also known as venous angiomas, are congenital in origin and characterized by dilatation of vessels in the superficial and deep venous system. Although they are usually clinically silent, they can be complicated by hemorrhage, seizures and neurologic deficits. Herein, we report MR imaging findings of a 7-year-old girl whose hydrocephalus was due to an abnormal vein coursing through the aqueduct.

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