Complex central nervous system (CNS) malformations frequently coexist with other developmental abnormalities, but whether the associated defects share a common genetic basis is often unclear. We describe five individuals who share phenotypically related CNS malformations and in some cases urinary tract defects, and also haploinsufficiency for the NFIA transcription factor gene due to chromosomal translocation or deletion. Two individuals have balanced translocations that disrupt NFIA. A third individual and two half-siblings in an unrelated family have interstitial microdeletions that include NFIA. All five individuals exhibit similar CNS malformations consisting of a thin, hypoplastic, or absent corpus callosum, and hydrocephalus or ventriculomegaly. The majority of these individuals also exhibit Chiari type I malformation, tethered spinal cord, and urinary tract defects that include vesicoureteral reflux. Other genes are also broken or deleted in all five individuals, and may contribute to the phenotype. However, the only common genetic defect is NFIA haploinsufficiency. In addition, previous analyses of Nfia−/− knockout mice indicate that Nfia deficiency also results in hydrocephalus and agenesis of the corpus callosum. Further investigation of the mouse Nfia
+/− and Nfia
−/− phenotypes now reveals that, at reduced penetrance, Nfia is also required in a dosage-sensitive manner for ureteral and renal development. Nfia is expressed in the developing ureter and metanephric mesenchyme, and Nfia
+/− and Nfia
−/− mice exhibit abnormalities of the ureteropelvic and ureterovesical junctions, as well as bifid and megaureter. Collectively, the mouse Nfia mutant phenotype and the common features among these five human cases indicate that NFIA haploinsufficiency contributes to a novel human CNS malformation syndrome that can also include ureteral and renal defects.
Shunt-dependent hydrocephalus was comparable in the two treatment groups, even in patients with better clinical and radiological grades on admission. Only patients in the endovascular therapy group who had experienced IVH showed a higher likelihood of shunt-dependent hydrocephalus.
After a tsunami hit Asia in December 2004, 2 survivors had severe infections due to multidrug-resistant and atypical bacteria and rare fungi weeks afterwards. Treating these infections is challenging from a clinical and microbiologic point of view.
Diffusion tensor imaging (DTI) can visualize the white matter tracts in vivo. The aim of this study was to assess the clinical utility of DTI in patients with diseases of the spinal cord. Fourteen subjects underwent magnetic resonance imaging of the spine at 1.5 T. Preliminary diagnosis of the patients suggested traumatic, tumorous, ischemic or inflammatory lesions of the spinal cord. In addition to T2-weighted images, DTI was performed with the gradients in 30 orthogonal directions. Maps of the apparent diffusion coefficient and of fractional anisotropy were reconstructed. Diffusion tensor imaging showed a clear displacement and deformation of the white matter tracts at the level of the pathological lesions in the spinal cord. This capability of diffusion tensor imaging to reliably display secondary alterations to the white matter tracts caused by the primary lesion has the potential to be of great utility for treatment planning and follow-up.
Introduction Few series compare endoscopic third ventriculostomies (ETV) and ventriculoperitoneal shunts (VPS). To avoid the complications after a shunt insertion, there is an increased tendency to perform a third ventriculostomy. We reviewed all pediatric patients operated in the French-speaking part of Switzerland for a newly diagnosed obstructive hydrocephalus since 1992 and compared the outcome of patients who benefited from ETV to the outcome of patients who benefited from VPS. There were 24 ETV and 31 VPS. Discussion At 5 years of follow-up, the failure rate of ETV was 26%, as compared to 42% for the VPS group. This trend is also found in the pediatric series published since 1990 (27 peer-reviewed articles analyzed). Conclusion In accordance to this trend, although a statistical difference cannot be assessed, we believe that ETV should be the procedure of choice in pediatric obstructive hydrocephalus.
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