Features that distinguish autosomal recessive spastic ataxia of Charlevoix-Saguenay from other recessive ataxias include sensory motor polyneuropathy and hypermyelinated retinal nerve fibers. We describe the clinical, electrophysiological, and radiological features in 2 white American

siblings diagnosed with autosomal recessive spastic ataxia of Charlevoix-Saguenay. The 2 affected children are compound heterozygotes for nonsense mutations of the SACS gene (c. 3484 G > T, p. E 1162 X; and c. 11,707 C > T, p. R 3903 X). We have measured allele-specific SACS mRNA abundance in peripheral blood and click here show that these specific mutant mRNAs are not degraded. We suggest that in children with early onset cerebellar ataxia and spasticity, ophthalmological examination and nerve conduction testing may guide genetic testing.”
“Purpose: To study the incidence, pathogenesis, imaging

characteristics, and clinical importance of a unique subtype of epidural hematoma (EDH) associated with blunt head trauma.

Materials and Methods: This study was reviewed and approved by the hospital’s Institutional Review Board and was compliant with HIPAA. Informed consent was waived. The investigation was a retrospective study of 200 patients with acute supratentorial EDH, defined as a biconvex, high-attenuating, extraaxial hematoma. A subgroup of 21 patients in whom the EDH was located at the anterior aspect of the middle cranial fossa was defined. Computed tomographic selleck chemical images and inpatient medical records of these 21 patients were evaluated for imaging characteristics of the EDH, presence or absence of associated fracture, presence or absence of midline shift and/or mass effect, additional intracranial injury, and hospital clinical course.

Results: Twenty-one (10.5%) of 200 traumatic EDHs localized to the anterior middle cranial fossa. All of these 21 anterior temporal EDHs were juxtaposed to the sphenoparietal sinus, and all but one were limited laterally by the sphenotemporal suture and medially by the orbital fissure; none extended above the lesser sphenoid

wing. Maximum thickness was less than 1 cm in 13 (62%) of 21 and less than 2 cm in 20 (95%) of selleck 21 patients. Isolated fractures of the greater sphenoid wing and ipsilateral zygomaticomaxillary fractures were present in 12 (57%) of 21 and nine (43%) of 21 patients, respectively. Concomitant intracranial injury was identified in 15 (71%) of 21 patients. Twenty (95%) of 21 lesions were present at the admission study, and all 21 were stable or smaller at follow-up imaging. No patient required neurosurgical intervention of their anterior temporal EDH.

Conclusion: Acute EDHs isolated to the anterior aspect of the middle cranial fossa constitute a subgroup of traumatic EDHs with a benign natural history. It is postulated that they arise from venous bleeding due to disruption of the sphenoparietal sinus.