Hyperreflexia brain

RATIONALE: X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene leading to very long chain fatty acid (VLCFA) accumulation. The disease demonstrates a spectrum of phenotypes including adrenomyeloneuropathy (AMN). We aimed to identify the genetic basis of disease in a patient presenting with AMN features in order to confirm the diagnosis, expand genetic knowledge of ABCD1 mutations, and elucidate potential genotype-phenotype associations to inform management. PATIENT CONCERNS: A 29-year-old male presented with a 4-year history of progressive spastic paraplegia, weakness of lower limbs, fecal incontinence, sexual dysfunction, hyperreflexia, and positive Babinski and Chaddock signs...

A 2.5-year-old female entire Pomeranian dog was presented for acute paraparesis progressing within 2 days to paraplegia. General physical examination was unremarkable. Neurological examination showed paraplegia without nociception, a mass reflex upon testing perineal reflexes and withdrawal reflexes in the pelvic limbs and patellar hyperreflexia. Cutaneous trunci reflexes were absent caudal to the level of the 6th thoracic vertebra. Spinal hyperesthesia was present. Neuroanatomical localization was consistent with a T3-L3 myelopathy...

Heterozygous RTN2 variants have been previously identified in a limited cohort of families affected by autosomal dominant spastic paraplegia (SPG12-OMIM:604805) with a variable age of onset. Nevertheless, the definitive validity of SPG12 remains to be confidently confirmed due to scarcity of supporting evidence. In our study, we identified and validated seven novel or ultra-rare homozygous loss-of-function RTN2 variants in 14 individuals from seven consanguineous families with distal hereditary motor neuropathy (dHMN) using exome, genome and Sanger sequencing coupled with deep-phenotyping...

Osmotic demyelinating disease of the central nervous system has two variants: central pontine myelinolysis and extra-pontine myelinolysis (EPM). Up to 10% of cases of osmotic demyelination syndrome are associated with EPM, which mostly affects the thalamus and basal ganglia. It is commonly associated with the rapid correction of hyponatremia. An elderly woman in her 60s presented with complaints of acute gastroenteritis and giddiness and visited the emergency ward. On examination, she was conscious and oriented to time but disoriented to place and person and had slurring of speech with signs of dehydration...

INTRODUCTION: Acute disseminated encephalomyelitis (ADEM) is a rare neurological disorder characterized by inflammation in the brain and spinal cord. This systematic review aims to investigate the potential association between ADEM and influenza vaccination by analyzing relevant case reports. ADEM is traditionally thought to be a monophasic condition, predominantly affecting children, often following viral illnesses or immunizations. Recent attention has focused on a possible link between ADEM and influenza vaccination, prompting the need for a thorough investigation...

A 19-year-old man presented with 3 years of gradually progressive, painless vision loss in both eyes. The ophthalmic examination showed bilateral diminished visual acuity, dyschromatopsia, and temporal optic nerve pallor. The neurological examination was consistent with a mild myelopathy with decreased pin-prick sensation starting at T6-T7 and descending through the lower extremities. Hyperreflexia was also present in the lower more than upper extremities. Infectious, inflammatory, and nutritional serum workup and cerebrospinal fluid analysis were both unrevealing...

Disease-causing variants in HEPACAM are associated with megalencephalic leukoencephalopathy with subcortical cysts 2A (MLC2A, MIM# 613,925, autosomal recessive), and megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without impaired intellectual development (MLC2B, MIM# 613,926, autosomal dominant). These disorders are characterised by macrocephaly, seizures, motor delay, cognitive impairment, ataxia, and spasticity. Brain magnetic resonance imaging (MRI) in these individuals shows swollen cerebral hemispheric white matter and subcortical cysts, mainly in the frontal and temporal regions...

INTRODUCTION: The standard of care for patients with infantile-onset Pompe disease (IOPD) is enzyme replacement therapy (ERT), which does not cross the blood brain barrier. While neuromuscular manifestations of IOPD are well-described, central nervous system (CNS) manifestations of this disorder are far less characterized. Here we describe severe CNS-related neurological manifestations including seizures and encephalopathy in six individuals with IOPD. METHOD: We identified six children with IOPD who developed CNS manifestations such as seizures and/or encephalopathy...

Thyrotoxic periodic paralysis (TPP) is a rare complication of hyperthyroidism that manifests as painless flaccid paralysis. An East Asian man in his late 20s presented to the emergency department with an acute onset of quadriparesis associated with hypertonia and hyperreflexia. His initial symptoms and signs suggested involvement of the brain and spinal cord; however, MRI of the neuroaxis was normal. His serum potassium concentration was low, and thyroid test results were consistent with hyperthyroidism. The patient was diagnosed with TPP associated with Graves' disease and was treated with potassium supplementation, propranolol and methimazole...

Pantothenate kinase-associated neurodegeneration (or previously known as Hallervorden-Spatz syndrome) is a very rare disorder that typically manifests in a child with neurological signs such as gait difficulties, dysarthria, and hyperreflexia, associated potentially with psychiatric symptoms such as cognitive decline. It demonstrates on MRI the typical 'eye of the tiger' appearance, which is due to gliosis and accumulation of iron in the globi pallidi. Other differentials can mimic this appearance on MRI, it is therefore important to search for the involvement of other basal ganglia nuclei and the cerebral cortex, and also to consider the clinical and biological context...

Clinical studies have shown that individuals with spinal cord injury (SCI) are particularly susceptible to infectious diseases, resulting in a syndrome called SCI-induced immunodeficiency syndrome (SCI-IDS), which is the leading cause of death after SCI. It is believed that SCI-IDS is associated with exaggerated activation of sympathetic preganglionic neurons (SPNs). After SCI, disruption of bulbospinal projections from the medulla oblongata C1 neurons to the SPNs results in the loss of sympathetic inhibitory modulation from the brain and brainstem and the occurrence of abnormally high levels of spinal sympathetic reflexes (SSR), named sympathetic hyperreflexia...

The evaluation of patients with disseminated processes with CNS and osseous involvement is often challenging. A 22-year-old healthy man developed left-sided weakness, paresthesias, and neck pain over several weeks. On clinical examination, he was noted to have decreased right eye visual acuity, left-sided pyramidal weakness and numbness, and bilateral hyperreflexia. MRI revealed multifocal widespread abnormalities: nonenhancing lesions throughout the infratentorial brain, pituitary gland, right frontal lobe, and optic nerves, in addition to an enhancing intramedullary cervical spinal cord lesion, extensive nodular leptomeningeal enhancement of the spine, and numerous enhancing bony lesions throughout the vertebrae and iliac bones...

A three-year-old female patient was admitted to our institution due to subacute fever, intermittent vomiting, persistent bilateral mydriasis after cycloplegia, right central facial palsy, and mild right hemiparesis with hyperreflexia. Brain MRI shows encephalitis in frontal, parietal, insular, and left putamen course and loss of cortical volume and white matter of the entire left hemisphere which are features described in Rasmussen's encephalitis (RE). Therapy with intravenous methylprednisolone bolus was initiated, with adequate clinical response...

Neuromyelitis optica, an autoimmune inflammatory disorder affecting the central nervous system, can occur in a paraneoplastic context, although rare. We report an intriguing case of a 71-year-old woman with a history of triple-negative infiltrating ductal breast carcinoma, manifesting with paraneoplastic neuromyelitis optica that led to significant respiratory failure and required a cervical laminectomy. The patient presented with pain in the left breast, weakness in the lower extremities, and neck pain. The neurological evaluation showed 2/5 muscle strength in all extremities, diffuse hyperreflexia, and loss of multimodal sensation below the shoulder...

OBJECTIVE: Spinal cord stimulation (SCS) is one approach to the potential improvement of patients with post-stroke or post-traumatic spasticity. However, little is known about whether and how such interventions alter supraspinal neural systems involved in the pathogenesis of spasticity. This pilot study investigated whether epidural spinal cord stimulation at the level of the C3-C5 cervical segments, aimed at reducing spasticity, alters the patterns of functional connectivity of the brain...

Zebrafish ( Danio rerio ) is a widely used vertebrate animal for modeling genetic diseases by targeted editing strategies followed by gross phenotypic and biomarker characterization. While larval transparency permits microscopic detection of anatomical defects, histological adult screening for organ-level defects remains invasive, tedious, inefficient, and subject to technical artifact. Here, we describe a noninvasive magnetic resonance imaging (MRI) approach to systematically screen adult zebrafish for anatomical growth defects...

OBJECTIVES: Low-intensity, focused ultrasound (FUS) is an emerging noninvasive neuromodulation approach, with improved spatial and temporal resolution and penetration depth compared to other noninvasive electrical stimulation strategies. FUS has been used to modulate circuits in the brain and the peripheral nervous system, however, its potential to modulate spinal circuits is unclear. In this study, we assessed the effect of trans-spinal FUS (tsFUS) on spinal reflexes in healthy rats...

Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) has been implicated in a wide range of CNS encephalitis and myelitis presentations. We present a previously healthy 16-year-old girl who presented with acute onset headaches that rapidly progressed to encephalopathy, flaccid paraparesis, lower extremity hyperreflexia, and urinary retention. Serial MRI brain and total spine imaging demonstrated evolving diffuse supratentorial leptomeningeal enhancement and holocord gray matter restricted T2 bright lesion without enhancement...

BACKGROUND AND PURPOSE: Defects in the mitochondrial respiratory chain (MRC) can lead to combined MRC dysfunctions (COXPDs) with heterogenous genotypes and clinical features. We report a patient carrying heterozygous variants in the TUFM gene who presented with clinical features compatible with COXPD4 and radiological findings mimicking multiple sclerosis (MS). METHODS: A 37-year-old French Canadian woman was investigated for recent onset of gait and balance problems...

Intracranial dural arteriovenous fistula (DAVF) can induce remote myelopathy via spinal perimedullary venous drainage. In the present study, we report a rare case of intracranial pial arteriovenous malformation (AVM)-related myelopathy. A 52-year-old man presented with progressive, predominantly proximal weakness and muscle atrophy in bilateral upper limbs, urinary retention, and hyperreflexia in bilateral upper and lower limbs. Brain and cervicothoracic MRI showed longitudinal myelopathy extending from the medulla oblongata to the T6 level, with perimedullary enlarged veins from the C1 to T12 level, and remarkable enhancement in bilateral anterior horns from the C2 to C7 level...