Intradural Extramedullary Lesions in Cervical Spine in Neurofibromatosis

Introduction: Neurofibromatosis (NF) is isolated into three diseases: NF type 1, type 2, and schwannoma. NF type 2 could be a disorder that's found roughly in 1/25,000–33,000 births with a mutation in gene 22q11.2, and it is passed through eras in an autosomal dominant fashion. Diagnosis is made with both clinical and radiological features. A few clinical features have been characterized in conclusion counting Manchester criteria. There is a scarce number of NF type 2 patients diagnosed with cervical lesions which are 25 in number. We report a case of an intradural extramedullary cervical lesion in a patient later diagnosed with NF type 2. Case Report: A 30-year-old male presenting with gradual onset and progressive course of spastic quadriparesis of six months’ duration was admitted through the emergency unit. MRI spine showed intradural extramedullary masses in the right side of C4 and left side of C6. The patient underwent cervical intradural excision of two masses under general anesthesia with neuromonitoring. The tumor was sent for histopathology and reported as NF type 2. Conclusion: NF is a common entity, but the diagnosis of cervical mass is judicious to avoid any complication in neurological function. It further needs a multidisciplinary approach and screening modalities.

Translational and Clinical Pharmacology Considerations in Drug Repurposing for X-linked Adrenoleukodystrophy-A Rare Peroxisomal Disorder

X-linked adrenoleukodystrophy (X-ALD) is an inherited, neurodegenerative rare disease that can result in devastating symptoms of blindness, gait disturbances, and spastic quadriparesis due to progressive demyelination. Typically, the disease progresses rapidly, causing death within the first decade of life. With limited treatments available, efforts to determine an effective therapy that can alter disease progression or mitigate symptoms have been undertaken for many years, particularly through drug repurposing. Repurposing has generally been guided through clinical experience and small trials. At this time, none of the drug candidates have been approved for use, which may be due, in part, to the lack of pharmacokinetic/pharmacodynamic (PK/PD) information on the repurposed medications in the target patient population. Greater consideration for the disease pathophysiology, drug pharmacology, and potential drug-target interactions, specifically at the site of action, would improve drug repurposing and facilitate development. Although there is a good understanding of X-ALD pathophysiology, the absence of information on drug targets, pharmacokinetics, and pharmacodynamics hinders the repurposing of drugs for this condition. Incorporating advanced translational and clinical pharmacological approaches in preclinical studies and early stages clinical trials will improve the success of repurposed drugs for X-ALD as well as other rare diseases.

Hurler’s disease presenting with quadriparesis and short stature

Mucopolysachharidosis are a broad spectrum of rare lysosomal storage disorder caused by deficiency of enzymes responsible for degradation of glycosaminoglycans (GAG), thus leading to accumulation of GAG in various body tissues leading to somatic and neurological manifestations. General phenotype includes coarse facies, corneal clouding, hepatosplenomegaly, dysostosis multiplex etc. Detailed clinical and radiological evaluation and identification of type of GAG excreted in urine narrows the diagnostic possibilities. Definitive diagnosis requires assay of specific enzymes in various tissues. Till date 14 different types of MPS including subtypes are identified. We report a case of 4 years old male child presented with short stature, spastic quadriparesis, bony abnormalities and hepatosplenomegaly without intellectual impairment.

A case of spastic quadriparesis secondary to enteric fever

Enteric fever is a systemic disease characterised predominantly by fever and abdominal pain, caused by dissemination of Salmonella Typhi or Salmonella Paratyphi. Enteric fever can affect many organ systems including liver, gastrointestinal tract, kidney and brain. Neurological manifestations occur in 2%–40% of patients and include meningitis, Gullian-Barré syndrome, neuritis and neuro-psychiatric symptoms. Spastic quadriparesis is a rare complication.

Endoscopic Endonasal Resection of C1–C2 Pannus, a Step-by-Step Surgical and Anatomical Description: 2-Dimensional Operative Video

Expanded endonasal endoscopic approaches provide access to the entire central skull base and craiocervical junction. The authors present a case of an 81-year-old man who presented with progressive spastic quadriparesis to the point of being wheel-chair bound. Cervical spine computed tomography (CT) and magnetic resonance imaging (MRI) demonstrated multilevel extensive spondylitic changes with a large pannus at the C1–2 junction, severely compressing the spinal cord (Figs. 1 and 2). Given the significant anterior spinal cord compression and the patient's substantial weakness, the decision was made to perform an endoscopic endonasal anterior cervical decompression and resection of the pannus followed a posterior cervical fusion. The patient recovered well following surgery with significant improvement of motor function. The preoperative assessment, the step-by-step surgical technique, and the technical nuances are demonstrated and discussed.The link to the video can be found at: https://youtu.be/HzrZO-0Vol4.

Symptomatic Giant Virchow-Robin Spaces: A Rare Cause of Spastic Quadriparesis in 43-Year-old Ethiopian Patient: A Case Report

BACKGROUND: Virchow-Robin Spaces (VRS) are perivascular spaces that surround small arteries and arterioles. These normal anatomical structures are thought to be involved in the drainage of interstitial fluid and also to play an immunomodulatory role by hosting macrophages. Rarely, it becomes giant and symptomatic resulting in mass effect on adjacent neuronal structures and ventricular system causing different neurological disorders.CASE PRESENTATION: We report a 43-year-old, Ethiopian woman who presented with progressive weakness of all her extremity over the period of seven years. She had associated speech difficulty, visual blurring and pseudo-bulbar affect. Neurologic examination revealed spastic quadriparesis with increased deep tendon reflexes and up going plantar bilaterally. She had horizontal nystagmus, dysarthria and reduced bilateral visual acuity, otherwise normal cognition and cranial nerves examination. Brain MRI showed T1 hypointense, T2 hyperintense and non-enhancing multiple cystic lesions of different size, mainly in bilateral basal ganglia area with mass effect on adjacent internal capsule and lateral ventricles. Considering her clinical presentation and typical radiological features, diagnosis of symptomatic dilated Virchow-Robin spaces was made, and the patient was treated symptomatically.CONCLUSION: Commonly, dilation of Virchow-Robin spaces are not symptomatic, but giant Virchow-Robin spaces, as in our patient may result in spastic quadriparesis, causing great disability on the patient. Thus, we recommend considering symptomatic Virchow- Robin spaces as a potential differential diagnosis of progressive quadriparesis, as early neurosurgical intervention may reduce the neurological complications, such as spastic quadriparesis.

Two Novel Compound Heterozygous ADGRG1/GPR56 Mutations Associated with Diffuse Cerebral Polymicrogyria

Background Polymicrogyria (PMG) has environmental or genetic etiologies. We report a 8-year-old boy with diffuse PMG and two novel adhesion G protein-coupled receptor G1 (ADGRG1)/G protein-coupled receptor 56 (GPR56) mutations. Case Report The proband has intellectual disability, spastic quadriparesis, and intractable epilepsy without antenatal or perinatal insults. Brain magnetic resonance imaging revealed PMG involving fronto-polar, parietal and occipital lobes with decreasing antero-posterior gradient, and a thinned-out brain stem. Targeted exome sequencing identified two novel compound heterozygote ADGRG1/GPR56 mutations (c.C209T and c.1010dupT), and each parent carries one of these mutations. Subsequent pregnancy was terminated because the fetus had the same mutations. Conclusion The detected mutations expanded the genetic etiology of PMG and helped the family to avoid another child with this devastating condition.

Perioperative Sedation and Sympatholysis Due to Tizanidine

Tizanidine is a short acting central muscle relaxant. It has agonist activity at noradrenergic alpha 2 receptors and inhibits the excitatory (presynaptic) motor neurons at both the spinal and supraspinal levels. Its action is through central alpha 2 receptors agonism. Tizanidine is a Food and Drug Administration (FDA) approved drug for reducing muscle tone in spastic conditions like spastic quadriparesis, multiple sclerosis, spinal cord injury and so on. Working knowledge of this kind of drugs are rarely used in the clinical practice which is useful for the anaesthesiologists to manage cases in the perioperative period. Here Authors reported the perioperative effects of Tizanidine in a patient with clitoral mass excision under general anaesthesia. All preoperative investigations were found with in normal limits. Patient was on tizanidine preoperatively for spastic quadriparesis. Intraoperatively, there were no significant fluctuations of Blood Pressure (BP) and Heart Rate (HR) even laryngoscopic response blunted. Postoperatively patient was calm and drowsy. This perioperative sympatholysis and sedation was due to tizanidine.