मस्तिष्क संबंधी विकार

Endoscopic spine surgeons bridge the major gap between fusion-oriented spinal surgeons and pain management physicians. Current surgical philosophy by traditionally trained spinal surgeons focuses on decompression with or without fusion as the “ultimate cure” for a painful spinal segment, while pain management uses spinal injections and techniques such as peripheral nerve and spinal cord neuro-modulation to relieve pain. Endoscopic surgery is the least invasive of current minimally invasive surgical options-focuses on treating the patho-anatomy of the pain generator. This represents a path between traditional open decompression with or without fusion and the more temporary techniques of pain management.

Current surgical philosophy by traditionally trained spinal surgeons focuses on decompression with or without fusion as the “ultimate cure” for a painful spinal segment. Endoscopic surgery-the least invasive of current minimally invasive surgical options—focuses on treating the patho-anatomy of the pain generator. Spondylolisthesis is traditionally represented as a “gold standard” for fusion, but with minimally invasive techniques evolving, there is a new path between traditional open decompression and fusion that offers an alternative. A review of a database of patients who refused fusion, but opting to an endoscopic decompression with sciatica, even in the face of back pain determined that transforaminal decompression for a disc herniation or foraminal stenosis is effective in some patients and result in a decrease in the need for fusion.

The endoscopic transforaminal decompression technique is discussed as a stand-alone or staged procedure that may reduce the number of surgical fusions in the face of degenerative and isthmic spondylolisthesis. When combined with surgical rhizotomy for low back pain, this hybrid procedure includes rhizolysis for posterior column back pain, may offer a cost-effective method for treating common debilitating chronic low back pain.

Background: Changes of vertical nystagmus in the opposite direction are very rarely reported. This study aimed to report an unusual case of Wernicke’s encephalopathy (WE) presenting with a transition from upbeat nystagmus (UN) to downbeat nystagmus (DN) and to investigate the clinical pattern of changing vertical nystagmus in the opposite direction reported in the literature.
Methods: We present a WE patient with primary position UN that changed to DN with an upward or horizontal lateral gaze. Additionally, we review previously reported cases and analyze the clinical patterns of changing vertical nystagmus in the opposite direction.
Results: Among 10 cases, including our case, the most common type of changing vertical nystagmus in the opposite direction was a transition from UN to DN (n=9, 90%). The most common diagnosis was WE, which is accompanied by changes in vertical nystagmus from UN to DN (n=6, 60%). The most commonly associated neuro-radiological localizations for the changing of vertical nystagmus were the brainstem and the cerebellum.
Conclusion: The results of this clinical investigation may provide support for the diagnosis of WE. In addition, if young or middle-aged patients exhibit transitions from UN to DN with brainstem or cerebellar signs, a diagnosis of WE should be considered. Furthermore, clonazepam and thiamine might be helpful for improving nystagmus symptoms.

Early infantile epileptic encephalopathy/Ohtahara syndrome represents a group of genetically heterogeneous disorders affecting normal brain development and functioning. In this work, we present a case of two unrelated children diagnosed with early infantile epileptic encephalopathy and associated multiple congenital abnormalities. To obtain genetic diagnosis, these children were examined through multi-step diagnostic algorithm including G-banded karyotype analysis and whole-genomic screening using array-based comparative genomic hybridization (array-CGH) with negative results. Additionally, these children and their unaffected parents were enrolled for our pilot study of targeted nextgeneration sequencing technology (NGS) using commercial panel ClearSeq Inherited DiseaseXT (Agilent Technologies) and consequent validation by Sanger sequencing. Our analysis detected two distinct de novo pathogenic sequence variants in the SCN2A gene, resulting in p.Met1545Val and p.Ala263Val changes on the SCN2A protein level and explaining their pathological phenotypes.

In conclusion, our findings indicate that NGS can become the optimal approach to the genetics diagnostics of disorders of central nervous system (CNS) which can lead to the discovery of new candidate genes.

The mechanisms of hyperintense vessel (HV) imaging using fluid-attenuated inversion recovery (FLAIR) have not been elucidated. However, stationary blood and slow antegrade or retrograde collateral flow distal to thromboembolic occlusion of a proximal artery has been suggested as possible explanations for HVs. Also, HVs on FLAIR sequences may be related to intra-luminal thrombi or emboli, which have also been observed using computed tomography (CT) scans indicating hyperdense middle cerebral artery (MCA) extension into the MCA branches of the Sylvian fissure (dot signs), especially in the case of erythrocyte-rich clot. But even if it looks like ‘dot sign’, it also can be the leptomeningeal collaterals other than the migration of thrombus from proximal occlusion. In the present report, we found that distal hyperattenuating vessels on unenhanced brain CT scans have similar shapes to HVs on FLAIR, and present at similar locations. We describe indicators of distal vessels on unenhanced brain CT, which were observed in areas of reduced edema on follow-up brain CT.

Background: Valproic Acid (VPA), an anticonvulsant, is a histone deacetylase inhibitor that can increase the Survival Motor Neuron (SMN) level in Spinal Muscular Atrophy (SMA) patients and anticipated to be an effective therapeutic agent for SMA.
Patient description: VPA was administered for SMA to a 6-year-old female who showed non-symptomatic abnormal electroencephalogram findings, as well as SMA signs and symptoms. Although the VPA concentration of our patient remained in a low range, electroencephalogram abnormalities disappeared within 10 months after starting administration. On the other hand, clinical signs and symptoms of SMA, respiratory function values, and modified Hammersmith Functional Motor Scale results showed no remarkable changes. We also analyzed survival motor neuron (SMN) transcripts and splicing factor transcripts, such as splicing factor 2/alternative splicing factor (SF2/ASF) and heterogeneous nuclear ribonucleoprotein A1 (hnRNPA1), using quantitative real-time PCR assays performed before and after VPA treatment. The amounts of the FL-SMN, total-SMN, ASF/SF2, and hnRNPA1 transcripts showed an increasing tendency, whereas that of Δ7-SMN was decreased.
Conclusion: Our findings indicate a discrepancy between SMN transcript response, and improvements in SMA symptoms and signs following VPA administration in some SMA patients.