SOX10 mutation with peripheral amyelination and developmental disturbance of axons.

In this study we describe a case of a term infant with the neurological variant of Waardenburg syndrome type 4 (i.e., PCWH = peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease, as defined in OMIM #609136) due to a novel heterozygous base exchange (c.671C>G) in exon 4 of SOX10. Magnetic resonance imaging suggested central myelin deficiency with cerebral and cerebellar hypoplasia. Hirschsprung disease was confirmed by rectal biopsy. Sural nerve biopsy revealed hypoplasia due to amyelination (with the exception of a single, small myelinated fiber) and severe reduction in the number of axons.

Pediatric high grade glioma of the spinal cord: results of the HIT-GBM database.

Little is known about pediatric spinal cord high grade gliomas (SCHGG) beyond their dismal prognosis. Here, we analyzed the HIT-GBM(®) database for the influence of surgical resection on survival. Between 1991 and 2010 the HIT-GBM group collected data from European children diagnosed with high grade glioma. Patients with the following inclusion criteria were analyzed in this study: astrocytic histology, WHO grade III or IV, age at diagnosis <18 years, and tumor localized to the spinal cord. 28 patients (mean age 11.28 years, 14 male) with primary SCHGG were identified. The tumor sizes were measured by the span across adjacent vertebrae and varied greatly (range: 1-20, median: 4). Histology was classified as WHO grade III in 15 and grade IV in 13 tumors. Of note, the four largest tumors identified were WHO grade III. Surgery was classified as complete resection (n = 6), subtotal resection (STR) (n = 7), partial resection (n = 12) or biopsy only (n = 3). 27 patients received chemotherapy, 22 of which also received radiation. With the mean follow-up time of 2.88 (SD ± 2.95) years, 14 patients were still alive resulting in a median overall survival of 2.5 years (SE ± 1.6). The positive prognostic indicators for overall survival were: age younger than 5 years (P = 0.047), WHO grade III (P = 0.046), absence of necrosis (P = 0.025) and gross total resection (GTR) (P = 0.012). The prognosis of SCHGG might not be as miserable as generally assumed. GTR is of benefit. Larger data sets and meta-analysis are necessary to identify patient sub-groups.