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https://read.qxmd.com/read/38523720/parry-romberg-syndrome-a-case-report-and-literature-review
#1
Praveen K Sharma, Aadithiyan Sekar, Aashika Parveen Amir, Ajay Lucas Rubben Prabhu
Parry-Romberg syndrome (PRS) is a rare neurocutaneous and craniofacial disorder characterized by progressive hemifacial wasting and atrophy that predominantly affects children and young adults, with an estimated prevalence of 1 in 700,000 individuals. Despite its rarity, PRS poses significant challenges for patients, their families, and healthcare providers due to its unpredictable course and potential functional and aesthetic impairments. The main aim is to provide a comprehensive overview of PRS, encompassing its clinical features, pathogenesis, and management techniques...
June 2024: Radiology Case Reports
https://read.qxmd.com/read/38470115/pain-in-the-context-of-sensory-deafferentation
#2
JOURNAL ARTICLE
Steven P Cohen, Michael J Caterina, Su-Yin Yang, Mariano Socolovsky, Claudia Sommer
Pain that accompanies deafferentation is one of the most mysterious and misunderstood medical conditions. Prevalence rates for the assorted conditions vary considerably but the most reliable estimates are greater than 50% for strokes involving the somatosensory system, brachial plexus avulsions, spinal cord injury, and limb amputation, with controversy surrounding the mechanistic contributions of deafferentation to ensuing neuropathic pain syndromes. Deafferentation pain has also been described for loss of other body parts (e...
April 1, 2024: Anesthesiology
https://read.qxmd.com/read/38449952/through-the-eyes-of-uncertainty-giant-cell-arteritis-and-lyme-neuroborreliosis-in-a-story-of-vision-loss
#3
Leo Wan, Audrey Yan, Erin Reese, John Thomas, Mark Kissinger
Acute vision loss is a prevalent clinical manifestation associated with a broad spectrum of differential diagnoses, encompassing demyelinating diseases, neoplastic processes, autoimmune disorders, and infectious conditions. A rare but noteworthy infectious etiology contributing to acute vision loss is neurological Lyme disease (Lyme neuroborreliosis)-induced optic neuritis. Lyme disease, a vector-borne illness caused by the spirochete Borrelia burgdorferi , has the potential to affect multiple physiological systems and unfolds in three distinct stages...
February 2024: Curēus
https://read.qxmd.com/read/38296034/recurrent-mecr-r258w-causes-adult-onset-optic-atrophy-a-case-report
#4
JOURNAL ARTICLE
Nan Jia, Shuiqing Yu, Geng Zhang, Lin Li, Jiawei Wang, Chuntao Lai
MECR-related neurologic disorder, also known as mitochondrial enoyl CoA reductase protein-associated neurodegeneration (MEPAN) or dystonia with optic atrophy and basal ganglia abnormalities in childhood (MIM: #617282), is an autosomal recessive inherited disease characterized by a progressive childhood-onset movement disorder and optic atrophy. Here we report a 19-year-old male, presented with progressive visual failure, nystagmus, and right orbital pain, with no history of movement or eye disorder in his childhood...
January 29, 2024: European Journal of Medical Genetics
https://read.qxmd.com/read/37999753/-differential-diagnostics-of-chronic-eye-pain-from-a-neurological-perspective-what-can-also-lie-behind-it
#5
REVIEW
Charly Gaul, Wanlin Fan, Ludwig M Heindl, Tim Jürgens
Periorbital pain and pain in the eye may arise from nociceptive processes such as chronic ocular surface destruction and inflammation, from neuropathic processes or often from a combination of different mechanisms. An important differential diagnosis are primary headache disorders and other neurological diseases, for example of inflammatory origin, which trigger secondary pain. Chronic eye pain therefore requires interdisciplinary collaboration in the diagnostics and treatment.
November 24, 2023: Ophthalmologie
https://read.qxmd.com/read/37727508/acute-painful-horner-syndrome-as-the-first-presenting-sign-of-carotid-artery-dissection
#6
Zachary G Walburg
BACKGROUND: Horner syndrome is a rare neurologic disorder that can arise from severe neurologic and systemic conditions, which may require immediate diagnosis with radiologic imaging and treatment with antiplatelet and anticoagulant therapy. Horner syndrome is often asymptomatic but can have distinct, easily identified characteristics seen with an ophthalmic examination. CASE PRESENTATION: A 61-year-old woman presented with periorbital pain localized around and behind the right eye that she rated as 7 on a 10-point scale with onset 3 days prior...
May 2023: Federal Practitioner
https://read.qxmd.com/read/37702321/lamb-shaffer-syndrome-20-spanish-patients-and-literature-review-expands-the-view-of-neurodevelopmental-disorders-caused-by-sox5-haploinsufficiency
#7
REVIEW
Jair Tenorio-Castano, Ángela Sánchez-Algaba Gómez, Mónica Coronado, Pilar Rodríguez-Martín, Alejandro Parra, Patricia Pascual, Mario Cazalla, Natalia Gallego, Pedro Arias, Aixa V Morales, Julián Nevado, Pablo Lapunzina
Lamb-Shaffer Syndrome (LSS; OMIM #616803; ORPHA #313892; ORPHA #313884) is an infrequent genetic disorder that affects multiple aspects of human development especially those related to the development of the nervous system. LSS is caused by variants in the SOX5 gene. At the molecular level, SOX5 gene encodes for a transcription factor containing a High Mobility Group (HMG) DNA-Binding domain with relevant functions in brain development in different vertebrate species. Clinical features of Lamb-Shaffer syndrome may include intellectual disability, delayed speech and language development, attention deficits, hyperactivity, autism spectrum disorder, visual problems and seizures...
December 2023: Clinical Genetics
https://read.qxmd.com/read/37360353/case-report-evolution-of-catatonic-mutism-and-psychotic-symptoms-in-an-adolescent-with-down-syndrome-transition-from-down-syndrome-disintegrative-disorder-to-anti-n-methyl-d-aspartate-receptor-encephalitis
#8
Yuki Minamisawa, Mutsumi Sato, Yoshiaki Saito, Fumikazu Takeuchi, Hidehito Miyazaki, Mao Odaka, Ayako Yamamoto, Yoshitaka Oyama, Yoshihiro Watanabe, Saoko Takeshita, Yukitoshi Takahashi
During her first year of junior high school, a 12-year-old Japanese girl with Down syndrome experienced dizziness, gait disruption, paroxysmal weakness in her hands, and sluggish speaking. Regular blood tests and a brain MRI revealed no abnormalities, and she was tentatively diagnosed with adjustment disorder. Nine months later, the patient experienced a subacute sickness of chest pain, nausea, sleep problem with night terrors, and delusion of observation. Rapid deterioration then developed with simultaneous fever, akinetic mutism, loss of facial expression, and urine incontinence...
2023: Frontiers in Neurology
https://read.qxmd.com/read/37254165/cachexia-chorea-and-pain-in%C3%A2-chronic-nonbacterial-osteitis-and-inflammatory-bowel-disease-a-case-report
#9
JOURNAL ARTICLE
Ladan Agharokh, Katherine Mamola, Andrew G Yu, Annette L Medina, Bhaskar Gurram, Julie Fuller, Jason Y Park, Weina Chen, Veena Rajaram, Matthew R Hammer, Jeff L Waugh
BACKGROUND: Inflammatory bowel disease is an inflammatory disorder that primarily impacts the gastrointestinal tract, leading to malnutrition and chronic microscopic intestinal blood loss. Uncontrolled systemic inflammation can impact other parts of the body, known as extraintestinal manifestations. Up to 25% of patients with inflammatory bowel disease are reported to have these complications in their skin, joints, bones, eyes, liver, lung, and pancreas (Rogler et al. in Gastroenterology 161(4):1118-1132, 2021)...
May 31, 2023: Journal of Medical Case Reports
https://read.qxmd.com/read/37142796/the-noradrenergic-subtype-of-parkinson-disease-from-animal-models-to-clinical-practice
#10
REVIEW
K Ray Chaudhuri, Valentina Leta, Kirsty Bannister, David J Brooks, Per Svenningsson
Many advances in understanding the pathophysiology of Parkinson disease (PD) have been based on research addressing its motor symptoms and phenotypes. Various data-driven clinical phenotyping studies supported by neuropathological and in vivo neuroimaging data suggest the existence of distinct non-motor endophenotypes of PD even at diagnosis, a concept further strengthened by the predominantly non-motor spectrum of symptoms in prodromal PD. Preclinical and clinical studies support early dysfunction of noradrenergic transmission in both the CNS and peripheral nervous system circuits in patients with PD that results in a specific cluster of non-motor symptoms, including rapid eye movement sleep behaviour disorder, pain, anxiety and dysautonomia (particularly orthostatic hypotension and urinary dysfunction)...
June 2023: Nature Reviews. Neurology
https://read.qxmd.com/read/37095452/ischemic-optic-neuropathy-as-first-presentation-in-patient-with-m-3243%C3%A2-a%C3%A2-%C3%A2-g-melas-classic-mutation
#11
JOURNAL ARTICLE
Simone Scarcella, Laura Dell'Arti, Delia Gagliardi, Francesca Magri, Alessandra Govoni, Daniele Velardo, Claudia Mainetti, Valeria Minorini, Dario Ronchi, Daniela Piga, Giacomo Pietro Comi, Stefania Corti, Megi Meneri
BACKGROUND: Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a systemic disorder in which multi-organ dysfunction may occur from mitochondrial metabolism failure. Maternally inherited mutations in the MT-TL1 gene are the most frequent causes for this disorder. Clinical manifestations may include stroke-like episodes, epilepsy, dementia, headache and myopathy. Among these, acute visual failure, usually in association with cortical blindness, can occur because of stroke-like episodes affecting the occipital cortex or the visual pathways...
April 24, 2023: BMC Neurology
https://read.qxmd.com/read/37080179/close-your-eyes-and-see-stroke-sequelae-versus-functional-neurological-disorder-in-a-physician
#12
E Jennifer Weil, Harold Keyserling, Burt Feuerstein, Olwen Murphy
The first author was a left-handed, 51-year-old nephrologist who experienced a neurologic event. She underwent neurosurgery complicated by hemorrhage. Post-operatively, she developed persistent vertigo and unilateral tongue pain which persisted for over five years. Early neuroimaging revealed expected encephalomalacia but no neuroanatomical basis for my symptoms. A functional neurological disorder was suspected, and she was seen by several psychiatrists and psychotherapists. However, she suspected a neuroanatomical lesion would better explain her unrelenting symptoms...
April 20, 2023: European Neurology
https://read.qxmd.com/read/37024731/patient-pathway-to-diagnosis-of-myelin-oligodendrocyte-glycoprotein-antibody-associated-disease-mogad-findings-from-a-multinational-survey-of-204-patients
#13
JOURNAL ARTICLE
Jonathan D Santoro, Jennifer Gould, Zoya Panahloo, Ella Thompson, Julia Lefelar, Jacqueline Palace
INTRODUCTION: Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is a rare demyelinating disorder of the central nervous system. Despite increased recognition of MOGAD as a distinct disease and the availability of sensitive methods of MOG antibody testing, diagnostic challenges remain. We conducted a survey to explore the patient experience from the start of symptoms to final MOGAD diagnosis. METHODS: A 23-question online survey (including multiple-choice and free-text responses) covering symptom history, healthcare interactions and impact of diagnosis was emailed to people living with MOGAD by The MOG Project patient advocacy group...
April 6, 2023: Neurology and Therapy
https://read.qxmd.com/read/36959147/bell-palsy-facts-and-current-research-perspectives
#14
JOURNAL ARTICLE
Jayaraman Rajangam, Arun Prasath Lakshmanan, K Umamaheswara Rao, D Jayashree, Rajan Radhakrishnan, B Roshitha, Palanisamy Sivanandy, M Jyothi Sravani, K Hanna Pravalika
Bell palsy is a non-progressive neurological condition characterized by the acute onset of ipsilateral seventh cranial nerve paralysis. People who suffer from this type of facial paralysis develop a droop on one side of their face, or sometimes both. This condition is distinguished by a sudden onset of facial paralysis accompanied by clinical features such as mild fever, postauricular pain, dysgeusia, hyperacusis, facial changes, and drooling or dry eyes. Epidemiological evidence suggests that 15 to 23 people per 100,000 are affected each year, with a recurrence rate of 12%...
March 21, 2023: CNS & Neurological Disorders Drug Targets
https://read.qxmd.com/read/36793835/duodenal-adenocarcinoma-in-the-setting-of-bariatric-surgery-a-perfect-storm-for-wernicke-s-encephalopathy
#15
Aliza Gross, Allen T Yu, Jacques Lara-Reyna, Koji Park, Eugenius J Harvey
Wernicke's encephalopathy (WE) is a condition resulting from thiamine deficiency that typically presents with acute neurologic symptoms including ataxia, eye movement disorders, and altered mental status. Though classically seen in patients with alcohol use disorder, it can also occur as a complication of bariatric surgery and gastrointestinal cancers. Here, we present a patient with a history of gastric band surgery and an intact alimentary tract. She presented with acute, intractable vomiting and epigastric abdominal pain, incompletely relieved by deflating her gastric band, and was found to have duodenal adenocarcinoma causing partial duodenal obstruction...
January 2023: Curēus
https://read.qxmd.com/read/36675593/corneal-sub-basal-nerve-plexus-in-non-diabetic-small-fiber-polyneuropathies-and-the-diagnostic-role-of-in-vivo-corneal-confocal-microscopy
#16
REVIEW
Anna M Roszkowska, Adam Wylęgała, Ludovica Gargiulo, Leandro Inferrera, Massimo Russo, Rita Mencucci, Bogusława Orzechowska-Wylęgała, Emanuela Aragona, Maura Mancini, Angelo Quartarone
In vivo corneal confocal microscopy (IVCM) allows the immediate analysis of the corneal nerve quantity and morphology. This method became, an indispensable tool for the tropism examination, as it evaluates the small fiber plexus in the cornea. The IVCM provides us with direct information on the health of the sub-basal nerve plexus and indirectly on the peripheral nerve status. It is an important tool used to investigate peripheral polyneuropathies. Small-fiber neuropathy (SFN) is a group of neurological disorders characterized by neuropathic pain symptoms and autonomic complaints due to the selective involvement of thinly myelinated Aδ-fibers and unmyelinated C-fibers...
January 13, 2023: Journal of Clinical Medicine
https://read.qxmd.com/read/36416887/addressing-self-injurious-behavior-in-the-medically-complex-child-identifying-the-root-cause-vs-blocking-resulting-behavior
#17
JOURNAL ARTICLE
Christina Low Kapalu, Amornluck Krasaelap, Sarah S Nyp
Gillian is a 7-year-old nonverbal, internationally adopted girl with significant visual impairment (sees shadows and objects with high contrast), moderate-severe hearing loss, autism spectrum disorder, profound intellectual disability, and a seizure disorder. She resided in an orphanage until age 4 years when she was adopted by her mother. She is referred to the multidisciplinary team in developmental-behavioral pediatrics by her gastroenterologist, who is managing her constipation, for evaluation and management of self-injurious behavior that occurs before bowel movements...
November 22, 2022: Journal of Developmental and Behavioral Pediatrics: JDBP
https://read.qxmd.com/read/36366396/bilateral-optic-neuritis-after-covid-19-vaccination-a-case-report
#18
Ching-Chih Liu, Wan-Ju Annabelle Lee
BACKGROUND: Neuro-ophthalmic manifestations after vaccines are rare, with optic neuritis (ON) being the most common presentation. Patients with vaccine-related ON are similar to those with idiopathic ON. The temporal relationship between vaccination against and the occurrence of ON is vital. Here, we report a case of bilateral ON after the administration of the ChAdOx1-S nCoV-19 SARS-CoV-2 vaccine. CASE: A 49-year-old healthy Asian female presented with sudden onset of bilateral blurred vision within 2 days...
November 9, 2022: Vaccines
https://read.qxmd.com/read/36166802/sharp-edge-eye-syndrome-a-case-report-and-survey-of-self-identified-individuals
#19
JOURNAL ARTICLE
Merrick S Reynolds, Bradley J Katz, Kathleen B Digre, Ben J Brintz, Lenora M Olson, Judith E A Warner
BACKGROUND: Sharp edge eye syndrome (SEES), sometimes known as visual looming syndrome, is a condition in which the patient experiences ocular pain or discomfort when viewing or mentally picturing sharp objects and edges. Patients may present for medical care because they perceive the condition to represent an ophthalmic problem or a sign of a more serious underlying condition. An individual case report of SEES is included to aid in illustrating syndrome characteristics. Our aim is to describe the syndrome, vision-related quality of life (VRQOL), and psychosocial characteristics in patients with self-identified SEES...
December 1, 2022: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://read.qxmd.com/read/36138353/long-segment-spinal-cord-infarction-complicated-with-multiple-cerebral-infarctions-a-case-report
#20
JOURNAL ARTICLE
Weifang Xing, Wensheng Zhang, Guozhong Ma, Guofen Ma, Jinzhao He
BACKGROUND: Spinal cord infarction is a rare disorder, constituting only 1% to 2% of all neurological vascular emergencies (making it less frequent than ischaemic brain injury); however, it is severe. A case of long-segment spinal cord infarction complicated with multiple cerebral infarctions has not been reported to date. CASE PRESENTATION: Here, we describe one such case: a patient with spinal cord infarction from the cervical 7 (C7) to thoracic 6 (T6) vertebrae, along with anterior spinal artery syndrome and complicated by multiple cerebral infarctions...
September 22, 2022: BMC Neurology
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