The Role of Neurophysiology in Managing Patients with Chiari Malformations.

Chiari malformation type 1 (CM1) includes various congenital anomalies that share ectopia of the cerebellar tonsils lower than the foramen magnum, in some cases associated with syringomyelia or hydrocephalus. CM1 can cause dysfunction of the brainstem, spinal cord, and cranial nerves. This functional alteration of the nervous system can be detected by various modalities of neurophysiological tests, such as brainstem auditory evoked potentials, somatosensory evoked potentials, motor evoked potentials, electromyography and nerve conduction studies of the cranial nerves and spinal roots, as well as brainstem reflexes. The main goal of this study is to review the findings of multimodal neurophysiological examinations in published studies of patients with CM1 and their indication in the diagnosis, treatment, and follow-up of these patients, as well as their utility in intraoperative monitoring.

Intraoperative Neurophysiological Monitoring in Syringomyelia Surgery: A Multimodal Approach.

Syringomyelia can be associated with multiple etiologies. The treatment of the underlying causes is first-line therapy; however, a direct approach to the syrinx is accepted as rescue treatment. Any direct intervention on the syrinx requires a myelotomy, posing a significant risk of iatrogenic spinal cord (SC) injury. Intraoperative neurophysiological monitoring (IONM) is crucial to detect and prevent surgically induced damage in neural SC pathways. We retrospectively reviewed the perioperative and intraoperative neurophysiological data and perioperative neurological examinations in ten cases of syringomyelia surgery. All the monitored modalities remained stable throughout the surgery in six cases, correlating with no new postoperative neurological deficits. In two patients, significant transitory attenuation, or loss of motor evoked potentials (MEPs), were observed and recovered after a corrective surgical maneuver, with no new postoperative deficits. In two cases, a significant MEP decrement was noted, which lasted until the end of the surgery and was associated with postoperative weakness. A transitory train of neurotonic electromyography (EMG) discharges was reported in one case. The surgical plan was adjusted, and the patient showed no postoperative deficits. The dorsal nerve roots were stimulated and identified in the seven cases where the myelotomy was performed via the dorsal root entry zone. Dorsal column mapping guided the myelotomy entry zone in four of the cases. In conclusion, multimodal IONM is feasible and reliable and may help prevent iatrogenic SC injury during syringomyelia surgery.

RFC1 repeat expansions and cerebellar ataxia, neuropathy and vestibular areflexia syndrome: Experience and perspectives from a neuromuscular disorders unit.

INTRODUCTION: Pathogenic expansions in RFC1 have been described as a cause of a spectrum of disorders including late-onset ataxia, chronic cough, and cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). Sensory neuronopathy/neuropathy appears to be a major symptom of RFC1-disorder, and RFC1 expansions are common in patients with sensory chronic idiopathic axonal neuropathy or sensory ganglionopathy. We aimed to investigate RFC1 expansions in patients with suspected RFC1-related disease followed-up in a Neuromuscular Diseases Unit, with a particular interest in the involvement of the peripheral nervous system. METHODS: We recruited twenty consecutive patients based on the presence of at least two of the following features: progressive ataxia, sensory neuropathy/neuronopathy, vestibulopathy and chronic cough. Medical records were retrospectively reviewed for a detailed clinical description. More extensive phenotyping of the RFC1-positive patients and clinical comparison between RFC1 positive and negative patients were performed. RESULTS: Biallelic AAGGG repeat expansions were identified in 13 patients (65%). The most frequent symptoms were chronic cough and sensory disturbances in the lower extremities (12/13). Only 4 patients (31%) had complete CANVAS. The phenotypes were sensory ataxia and sensory symptoms in extremities in 4/13; sensory ataxia, sensory symptoms, and vestibulopathy in 3/13; sensory symptoms plus chronic cough in 2/13. Chronic cough and isolated sensory neuronopathy were significantly more prevalent in RFC1-positive patients. CONCLUSION: Pathogenic RFC1 expansions are a common cause of sensory neuropathy/neuronopathy and should be considered in the approach to these patients. Identification of key symptoms or detailed interpretation of nerve conduction studies may improve patient selection for genetic testing.

Neuroimágenes estructurales y funcionales en la caracterización del linfoma del SNC / Structural and functional imaging for the characterization of CNS lymphomas

Objetivo: Mostrar los hallazgos en imágenes del compromiso primario o secundario del Sistema Nervioso Central (SNC) por el linfoma, haciendo énfasis en el aporte de la espectroscopía. Material y métodos: Se estudiaron en forma retrospectiva con un equipo de resonancia magnética (RM) de 1.5T 25 casos (16 hombres y 9 mujeres) con diagnóstico histológico de linfoma no Hodgkin y compromiso del SNC. Se destacaron los distintos tipos de presentación en imágenes convencionales con contraste y funcionales en espectroscopía. Se utilizaron técnicas multivoxel con tiempos de eco intermedio y corto. Resultados: Se detectaron 3 patrones principales de presentación de esta patología: parenquimatosa, meníngea y de pares craneanos. Además, se destacaron algunos hallazgos característicos, como compromiso de los espacios perivasculares. La resonancia magnética convencional no fue concluyente en la caracterización del tumor en varios de los casos. En dichos pacientes, el aporte de la espectroscopía fue de gran utilidad. El hallazgo más significativo tanto para los linfomas primarios como para los secundarios fue el aumento de los picos de lípidos y colina. El pico de lípido fue en algunos casos identificado como el metabolito dominante, especialmente en tiempos de eco (TE) corto. No se encontraron diferencias en el patrón espectroscópico entre linfomas primarios y sistémicos. Conclusión: La afectación del SNC por los linfomas presenta una gran variedad de manifestaciones radiológicas, con diferentes patrones de presentación. Esta característica hace difícil la correcta caracterización de estos tumores en forma prequirúrgica sólo con RM convencional. La espectroscopía por RM puede ser de gran utilidad en estas situaciones, demostrando la presencia del pico de lípido. Este hallazgo, presente en un tumor sólido intraxial con realce post contraste sugiere la posibilidad de un linfoma y podría promover la modificación de la estrategia terapéutica y quirúrgica.

Purpose: To show the imaging patterns of primary or secondary involvement of the Central Nervous System (CNS) in cases of lymphoma with emphasis in the contribution of spectroscopy. Material and methods: 25 cases (16 males and 9 females) were retrospectively reviewed using a 1.5T magnetic resonance unit. The patients had a histological diagnosis of Non- Hodgkins lymphoma with CNS involvement. The cases were studied with conventional MR with contrast and functional images were obtained with spectroscopy through a multivoxel technique using intermediate and short echo sequences Results: Three main patterns of presentation were identified: parenchymal, meningeal and cranial nerve involvement. Additionally some characteristic findings were detected such as the involvement of perivascular spaces. Conventional MRI was not conclusive in the characterization of several tumors. In such patients spectroscopy proved to be very useful. The most significant findings both in the primary tumors as well as in the secondary lesions were the lipid and choline peaks. The choline peak was in some cases identified as the dominant metabolite, particularly in the short TE echo sequences. No differences were found between the spectroscopic pattern of primary and systemic lymphomas. Conclusion: CNS lymphomas are tumors with a wide range of radiological patterns. This characteristic creates difficulties to characterize them correctly during the pre-surgical phase with conventional MRI alone. MR Spectroscopy may be useful in such cases by demonstrating the lipid peak. This finding only seen in deep intra-axial tumours demonstrated by contrast enhancement supports the presumption of lymphoma and may lead to changes in therapeutic or surgical strategy.