Ventriculoperitoneal shunt malfunction from cerebrospinal fluid eosinophilia in children: case-based update

Introduction  

Malfunction of cerebrospinal shunts is common and is due to multiple etiologies ranging from obstruction due to infiltrated brain tissue to mechanical disconnection.     

The pediatric Chiari I malformation: a review

Background Both the diagnosis and treatment regimens for the Chiari I malformation (CIM) are varied and controversial. The present paper analyzes the literature regarding this form of hindbrain herniation in regard to definition, anatomy, pathobiology, symptoms, findings, treatment, and outcomes. Discussions Appropriate literature germane to the CIM is reviewed and discussed. There is variation in the reported anatomy, outcome, and treatment for children with CIM. Based on the literature, most patients have preoperative symptoms or findings (e.g., syringomyelia) improve no matter what surgical technique is utilized. However, standardized treatment paradigms based on randomized controlled studies are still necessary to elucidate the optimal selection and treatment criteria.     

Morphometric analysis of the craniocervical juncture in children with Chiari I malformation and concomitant syringobulbia

Introduction  Although very uncommon, Chiari I malformation (CIM) with syringomyelia may be associated with concomitant syringobulbia. We hypothesized that the anatomy of the craniocervical region may be different in CIM patients with syringomyelia who develop syringobulbia in conjunction with their syringomyelia compared to other patients with CIM with and without syringomyelia. The present study was conducted in order to prove or disprove such a theory. Materials and methods  A group of 189 children with operated CIM were reviewed for the presence of syringobulbia, and this cohort then underwent morphometric analyses of their craniocervical juncture. These measurements were then compared to both our prior patient findings and historic controls. Results  The current study did not identify any morphometrical peculiarities for patients with CIM and syringobulbia compared to other CIM patients with and without isolated syringomyelia. Conclusions  Based on our study, the mechanism behind such cerebrospinal fluid distention into the brain stem remains elusive with no single morphometrical difference in patients with CIM and syringobulbia compared to other patients with CIM. Perhaps, future testing aimed at identifying pressure gradients across the foramen magnum in patients with and without syringobulbia and concomitant CIM may be useful.     

An exceptional complex chromosomal rearrangement (CCR) with eight breakpoints involving four chromosomes (1;3;9;14) in an azoospermic male with normal phenotype

A 27-year-old man was referred for chromosome analysis due to infertility caused by azoospermia. Chromosome analysis by conventional karyotyping, multicolour FISH (M-FISH) and multicolour banding (MCB) analysis revealed an apparently balanced translocation between chromosomes 1, 3, 9 and 14 as well as an additional inverted insertion of 3q material with a total of eight breakpoints. Due to the diversity of theoretically unbalanced products of meiotic recombination in this exceptional complex chromosomal rearrangement a successful result of assisted reproduction seems unlikely.