MR imaging of spinal cord hemangioblastoma associated with syringomyelia

A case of isolated spinal cord hemangioblastoma with associated extensive syringohydromyelia, which was evaluated by myelography, postmyelographic CT, magnetic resonance (MR), and angiography is presented. The specific preoperative and postoperative advantages of MR are given as well as a brief review of the literature.     

Everyday memory following traumatic brain injury

Residual memory deficits may represent a problem to the everyday functioning of a large number of people, including those who have sustained traumatic brain injury (TBI). The present exploratory study sought to investigate the interrelationships between subjective memory reports, performance on traditional memory tests, and performance on tests of prospective memory. These interrelationships were contrasted between a group of 24 adults who had sustained TBI and a group of 24 matched control subjects. Prospective memory was hypothesized to be indicative of everyday memory functioning. The results provided preliminary evidence that prospective memory tests are sensitive to TBIrelated neurological impairment and, in comparison to traditional tests, may be better indicators of functional memory capacity. This pattern was particularly true for control subjects, possibly because TBI subjects had difficulties in evaluating their memory functioning.     

Isolation of a new clathrin heavy chain gene with muscle-specific expression from the region commonly deleted in velo-cardio-facial syndrome

Velo-cardio-facial syndrome (VCFS) and DiGeorge syndrome (DGS) are developmental disorders characterized by a spectrum of phenotypes including velopharyngeal insufficiency, conotruncal heart defects and facial dysmorphology among others. Eighty to eighty-five percent of VCFS/DGS patients are hemizygous for a portion of chromosome 22. It is likely that the genes encoded by this region play a role in the etiology of the phenotypes associated with the disorders. Using a cDNA selection protocol, we isolated a novel clathrin heavy chain cDNA (CLTD) from the VCFS/DGS minimally deleted interval. The cDNA encodes a protein of 1638 amino acids. CLTD shares significant homology, but is not identical to the ubiquitously expressed clathrin heavy chain gene. The CLTD gene also shows a unique pattern of expression, having its maximal level of expression in skeletal muscle. Velopharyngeal insufficiency and muscle weakness are common features of VCFS patients. Based on the location and expression pattern of CLTD, we suggest hemizygosity at this locus may play a role in the etiology of one of the VCFS-associated phenotypes.      

Neuropsychological Deficit and Academic Performance in Children and Adolescents Following Traumatic Brain Injury

Evaluated the utility of neuropsychological testing in predictingacademic outcome in children 1 year following traumatic braininjury (TBI). Fifty-one schoolage children who were admittedto hospital after TBI were assessed with a battery of neuropsychologicalmeasures at 3 months postinjury. Academic achievement was assessedat 3 and 12 months postinjury. The neuropsychological batteryincluded intelligence testing and measures of memory, learning,and speed of information processing. Academic outcome was assessedin terms of post-TBI changes in reading, spelling, and arithmetic;changes in teacher ratings of school performance; and changein school placement. According to logistic regression analysis,change in placement from regular to special education at 1-yearpost-TBI was predicted by injury severity and by neuropsychologicalperformance at 3 months post-TBI. Findings suggest that neuropsychologicaltesting is useful in identifying children with special educationalneeds subsequent to TBI.     

Cerebrospinal fluid shunt function and hydrocephalus in the pediatric age group: a radiographic/clinical correlation.

Eighty-four pediatric patients were evaluated clinically and radiographically on 112 separate admissions for suspected increased intracranial pressure and possible shunt malfunction. The shunt system was tested clinically in each patient and correlated with the ventricular size as determined by CT. Of the patients with enlarged ventricles, 87% had an improperly functioning shunt and 13% had a normally functioning shunt. Of the patients with normal or small ventricles, 93% had a normally functioning shunt. Thus the "false negative" rate was 4% (small ventricles with a nonfunctioning shunt) and the "false positive" rate was 13% (large ventricles with a functioning shunt).