Faculty Bibliography

In Tuberous sclerosis complex (TSC), neurological dysfunction, usually in association with epilepsy, is responsible for the greatest degree of disease-related disability. Epilepsy surgery is increasingly recognized as a therapeutic option given the often medication-resistant nature of the disease. Seven subjects with medically refractory epilepsy associated with TSC, who underwent surgery at a tertiary care epilepsy center and in whom both preoperative and postoperative neuropsychological data were available, were examined. The Vineland Adaptive Behavior Scales, and in one case, the WISC-III were utilized. Postoperatively, the composite standard scores declined in six of the seven subjects, although for the most part this decline was quite modest (8 points or less in 5/6 subjects). The mean overall developmental/intellectual quotients were comparable across assessments (preoperative M = 55, SD = 20.3; postoperative M = 49 SD = 16.6). Good outcomes appeared to be related to seizure relief. Age estimates of developmental level indicated developmental progress in the majority of subjects in the current sample, and may yield greater clinical information for individuals with developmental delay than do standard scores

Understanding molecular pathways, signaling cascades, and genetic alterations activated during tumorigenesis is essential for the development of targeted cancer treatments. In children, tumors of the central nervous system are thought to arise from progenitor cells that show considerable temporal and spatial heterogeneity in a developmental environment that is different from that of the adult. Investigating the molecular basis of pediatric tumors is critical because it is likely to generate novel treatments. Animal models have brought many important advances in this field. In this review the authors discuss the mouse models based on the Sonic hedgehog pathway, which have provided a better knowledge of the genetic and molecular alterations of medulloblastoma

The authors describe a patient who experienced a prolonged course of intrathecal baclofen withdrawal syndrome after removal of an implantable baclofen pump for treatment of pump infection and meningitis. The current literature outlines management options for the acute management of this syndrome. In this report the authors discuss the long-term presentation of this syndrome and suggest a treatment strategy for management of the syndrome. A 37-year-old man who presented with a baclofen pump infection and meningitis experienced acute onset of intrathecal baclofen withdrawal syndrome 12 hours after the pump had been surgically removed. The patient's symptoms evolved into a severe, treatment-refractory withdrawal syndrome lasting longer than 1 month. Oral baclofen replacement with adjunctive administration of parenteral gamma-aminobutyric acid agonists only served to stabilize the patient's critical condition throughout his hospital course. Replacement of the baclofen pump and restoration of intrathecal delivery of the medication was necessary to trigger the patient's dramatic recovery and complete reversal of the withdrawal syndrome within approximately 48 hours. These findings indicate that a more direct method of treating infected baclofen pumps than immediate surgical removal is necessary to prevent the onset of intrathecal baclofen withdrawal syndrome. Various options for preventing the onset of the syndrome while simultaneously treating the infection are discussed