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Restoring muscle function to patients with spinal cord injuries (SCIs) will invariably require a functioning lower motor neuron (LMN). As techniques such as nerve transfer surgery emerge, characterizing the extent of LMN damage associated with SCIs becomes clinically important. Current methods of LMN diagnosis have inherent limitations that could potentially be overcome by the development of magnetic resonance imaging (MRI) biomarkers: specific features on MRI that are indicative of LMN integrity. To identify research on MRI biomarkers of LMN damage in the acute phase after SCI, we searched PubMed, EMBASE, MEDLINE, and the Cochrane Central Register of Controlled Trials for articles published from inception to April 27, 2021. Overall, 2 of 58 unique articles screened met our inclusion criteria, both of which were small studies. We therefore identify MRI biomarkers of LMN damage overlying SCI as a notable gap in the literature. Because of the lack of existing literature on this specific problem, we further our discussion by examining concepts explored in research characterizing MRI biomarkers of spinal cord and neuronal damage in different contexts that may provide value in future work to identify a biomarker for LMN damage in SCI. We conclude that MRI biomarkers of LMN damage in SCI is an underexplored, but promising, area of research as emerging, function-restoring therapies requiring this information continue to advance., Competing Interests: No competing financial interests exist., (© Jethro Moneo et al., 2021; Published by Mary Ann Liebert, Inc.)

Introduction: Tuberous sclerosis complex (TSC) is one of the most frequent neurocutaneous disorders. Cortical tubers are the most common pathological changes in TSC and they are directly related to the disease's main clinical manifestations: seizures, mental retardation, and autistic behaviour., Objective: The aim of this study is to establish a correlation between tuber size and the severity of clinical features in TSC., Material and Methods: We performed a retrospective study of the clinical and imaging findings from 45 TSC patients (22 females and 23 males) and compared the clinical features with the location, size, and number of the cortical tubers in each patient., Results: Four patients had voluminous tubers located in 1 or both cerebral hemispheres. All of these patients had intractable seizures and severe mental retardation; 3 of these cases also presented with autistic behaviour, despite tubers having been resected in all 4 patients. Thirteen patients had tubers of large-to-average size, and all patients in this group showed intractable seizures and mental retardation. Nine patients who had experienced infantile spasms during the first year of life presented autistic behaviour. Multiple tubers of small to average size were found in 28 patients. In general, this group had seizures that responded well to antiepileptic drugs and a low prevalence of autism. In 3 patients who all presented good seizure control and normal intelligence, single cortical/subcortical tubers were located in the frontal or occipital lobes. Of the total of 45 patients, 13 had cerebellar as well as cerebral tubers; these were generally present in cases with more severe clinical features., Conclusions: Although large tubers are less common than small to medium-sized ones, they are much more likely to be accompanied by severe clinical symptoms (seizures, mental retardation and autistic behaviour), even when the smaller tubers are quite numerous., (Copyright © 2012 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.)

Introduction: The term focal cortical dysplasia (FCD) describes a particular migration disorder with a symptomatology mainly characterised by drug-resistant epileptic seizures, typical neuroradiological images, and histological characteristics, as well as a very positive response to surgical treatment in the majority of cases., Material and Methods: A total of 7 patients were studied, comprising 6 children with a mean age of 34.3 months and one 25-year-old male with very persistent focal seizures and MRI images that showed FCD., Results: Three of the patients (all girls) were operated on while very young, with extirpation of the FCD and the surrounding area; with the histopathology study showed agreement between the MRI images and the macroscopic study of the slices. The histology study showed findings typical of a Taylor-type FCD (poor differentiation between the cortical grey matter and the subcortical white matter, and balloon cells). Three years after the FCD extirpation, the same 3 patients remained seizure-free with no anti-epilepsy medication. Two others have seizure control with medication, another (the adult) is on the surgical waiting list, and the remaining patient refused the operation., Conclusion: Taylor-type FCD is associated with a high percentage of all drug-resistant focal seizures, and it needs to be identified and extirpated as soon as possible. Well planned and well-performed surgery that leaves no remains of dysplasia can cure the disease it in many cases., (Copyright © 2011 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.)

Objective: Presentation of 8 patients with subependymal giant-cell astrocytomas (SGCA) associated with tuberous sclerosis complex (TSC)., Material and Methods: There are 8 patients, 6 males and 2 females with TSC, who presented with the tumour between the neonatal period and 24 years., Results: All patients showed bilateral hypersignalised areas in zones close to the foramen of Monro. Three of the patients were admitted urgently due to blindness and increased intracranial pressure. Incomplete removal of the tumour has always been bad solution as it resulted in the death of the patient (in one case) or further surgery operation in the short term. Only one patient developed the tumour suddenly from pre-existing subependymal nodules from the childhood and they had to be removed at 24 years of age. By contrast, 32 patients with TSC and images of subependymal nodules whose CT or MR progress was followed up for between 10 and 30 years did not develop a tumour. One patient had to be operated four times over 20 years., Conclusions: SGCA associated with TSC is a severe complication which as likely to develop and careful monitoring is required from neonatal age with periodicclinical and imaging studies in order to avoid its irreversible complications. Hydrocephaly, blindness and even the death can be the main consequences. Reintervention of the recurrent tumour is often necessary.

Aim: To present two patients with chondrodysplasia punctata and cervical spine compression who had a chronic myelopathy., Case Reports: The patients are a boy who was seen in our service at 13 years of age because of a progressive spastic quadriparesis since infancy and muscle spasm, and a girl, actually 15-year-old, who was studied by us since 2 years of age because of the same problem and moderate mental retardation. Magnetic resonance study disclosed narrowing of the spinal canal at the level of C1-C2 and C5-C6. Surgical decompression was performed in both cases. The case 2 also received physiotherapy, myorrelaxing medication and botulinum toxin treatments. The case 2 has short stature and intellectual level below normality., Conclusion: Chondrodysplasia punctata, that exhibits well defined clinical and radiological manifestations, is a disease that can present spinal cord compression during the first years of life. However, other pathological causes of still unknown origin may contribute to the progressive evolution and lack of recuperation of the problems derived of the spasticity as well as the mental retardation and the short stature.

Objective: To describe a patient with intractable seizures and hypothalamic hamartoma that was only partially resected with complete control of seizures and improvement in behavior after surgery., Clinical Case: He had gelastic seizures from the first months of life associated with hypothalamic hamartoma. We used magnetic resonance spectroscopy to localize and measure the lesion in the temporal lobes and in the hamartoma. The relative intensity of N-acetylaspartate to creatine (NAA/Cr) and NAA/choline (Ch) were not significantly different from normal control subjects for either temporal lobes, whereas the ratio NAA/Ch was decreased and the ratio NAA/Cr was highly increased in the hamartoma. Despite only partial resection of the hamartoma, seizures have been completely controlled and the patient has recovered normal social and work activity and is ending a normal life, that follow three years after surgery., Conclusions: These findings suggest that gelastic seizures associated with hypothalamic hamartoma are generated within the hamartoma itself, and that it is possible to control epilepsy and to improve intellectual and social problems with only partial resection of the mass.

Hypomelanosis of Ito (HI) is a neurocutaneous syndrome with multisystemic involvement. Its most frequent neurological abnormalities are mental retardation and seizures. EEG, CT and MRI findings are not characteristic enough to be diagnostic. In this report, we describe a patient with typical cutaneous lesions of HI and an intracranial arteriovenous malformation (AVM), which has not been previously reported.

By using five highly polymorphic markers, the allelic status of chromosome 1 was established in a series of 236 tumors of the nervous system, including all major histologic subtypes: gliomas, meningiomas, neurinomas, neuroblastomas, medulloblastomas, etc. Loss of alleles at 1p was observed at significant frequencies in neuroblastomas (26% of cases), meningiomas (32%), and malignant gliomas (37%) (primarily oligodendrogliomas [94%]). This anomaly was also detected in two of 23 neurinomas, two of three neurofibrosarcomas, one primary lymphoma, and two metastatic tumors of the brain. The analysis of tumors displaying partial 1p deletions suggests the existence of two distinct regions, 1p36 and 1p35-p32, in which loci nonrandomly involved in the development of neurogenic neoplasms might be located.

Changes in bladder behaviour and neurological symptoms were evaluated in 47 patients underwent untethered spinal cord because of tethered cord syndrome secondary to myeloneningocele closure. Patients were located in 3 categories (A < or = 5 years, B 6-10 years and C > 10 years) in relation to age of treatment. After untethering 77% improved neurologically and the best results were evident in children whose condition was repaired promptly (90%). Urodynamic studies were performed in 33 patients before and after surgery. Fifteen had hyperreflexic bladders, six low compliance and 12 hyperreflexia disappeared in 4 and sphinteric resistance increased in 2. In patients with tethered cord syndrome, untethering is recommended treatment in preventing further, sometimes rapid neurologic dysfunction and better results are got in childs whose condition is repaired at an early ages.

Primary bone tumors arising in the 1st vertebra (atlas) are extremely uncommon, only 12 cases are known to have been reported previously. The present report describes the clinicopathological features of 3 additional bone tumors originated in the atlas (osteochondroma, benign osteoblastoma, and Ewing's sarcoma), as well as their therapeutic management.

A patient with a history of subarachnoid hemorrhage is reported. CT scan evidenced a high-density, round lesion in the anterior part of the third ventricle. A full angiographic study demonstrated no vascular malformation. After removal of a circumscribed hematoma in the anterior part of the third ventricle, an arteriovenous malformation of the choroid plexus was excised.