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https://www.readbyqxmd.com/read/29734943/low-mood-visual-hallucinations-and-falls-heralding-the-onset-of-rapidly-progressive-probable-sporadic-creutzfeldt-jakob-disease-in-a-73-year-old-a-case-report
#1
Daniel Martin Klotz, Rose Sarah Penfold
BACKGROUND: Creutzfeldt-Jakob disease is a rare and rapidly fatal neurodegenerative disease. Since clinicians may see only very few cases during their professional career, it is important to be familiar with the clinical presentation and progression, to perform appropriate investigations, and allow for quick diagnosis. CASE PRESENTATION: A 73-year-old British Caucasian woman presented with acute confusion of 2 weeks' duration on a background of low mood following a recent bereavement...
May 8, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29478219/serial-magnetic-resonance-imaging-and-1-h-magnetic-resonance-spectroscopy-in-gaba-transaminase-deficiency-a-case-report
#2
Kazushi Ichikawa, Megumi Tsuji, Yu Tsuyusaki, Moyoko Tomiyasu, Noriko Aida, Tomohide Goto
Gamma-aminobutyric acid transaminase (GABA-T) deficiency is a rare, autosomal recessive disorder characterized by severe psychomotor retardation, early-onset epileptic encephalopathy, intractable seizures, hypotonia, and hyperreflexia. The disease is caused by mutation in the 4-aminobutyrate aminotransferase (ABAT) gene, which encodes an enzyme involved in GABA catabolism. In this chapter, a 10-year follow-up of GABA-T deficiency in a rare case of a long-term survivor patient is discussed. The patient showed a progression of clinical phases with increasing age...
February 25, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29437246/early-movement-restriction-leads-to-enduring-disorders-in-muscle-and-locomotion
#3
Maxime Delcour, Vicky S Massicotte, Michaël Russier, Hélène Bras, Julie Peyronnet, Marie-Hélène Canu, Florence Cayetanot, Mary F Barbe, Jacques-Olivier Coq
Motor control and body representation in the central nervous system (CNS) as well as musculoskeletal architecture and physiology are shaped during development by sensorimotor experience and feedback, but the emergence of locomotor disorders during maturation and their persistence over time remain a matter of debate in the absence of brain damage. By using transient immobilization of the hind limbs, we investigated the enduring impact of postnatal sensorimotor restriction (SMR) on gait and posture on treadmill, age-related changes in locomotion, musculoskeletal histopathology and Hoffmann reflex in adult rats without brain damage...
February 13, 2018: Brain Pathology
https://www.readbyqxmd.com/read/29232836/spasticity-management-in-disorders-of-consciousness
#4
REVIEW
Géraldine Martens, Steven Laureys, Aurore Thibaut
Background: Spasticity is a motor disorder frequently encountered after a lesion involving the central nervous system. It is hypothesized to arise from an anarchic reorganization of the pyramidal and parapyramidal fibers and leads to hypertonia and hyperreflexia of the affected muscular groups. While this symptom and its management is well-known in patients suffering from stroke, multiple sclerosis or spinal cord lesion, little is known regarding its appropriate management in patients presenting disorders of consciousness after brain damage...
December 9, 2017: Brain Sciences
https://www.readbyqxmd.com/read/28955431/challenges-of-stroke-management-in-resource-limited-settings-a-case-based-reflection
#5
Yohane G Gadama, Gloria Mwangalika, Louis B Kinley, Beth Jackson, Henry C Mwandumba, Jane Mallewa, Tom Solomon, Rob Simister, Laura A Benjamin, Maria I Vargas, Joseph Kamtchum-Tatuene, Tamara Phiri
A 19-year-old man presented with a 1-year history of headache, generalised body weakness, progressive memory loss, and disorientation. One month prior to admission, there was aggravation of the weakness of the right upper limb, with new-onset difficulty with mastication, speech impairment, apathy, and urinary incontinence. On clinical examination, the patient had a motor aphasia and a right-sided hemiparesis with increased muscle tone and hyperreflexia. A noncontrast computed tomography (CT) scan of the brain revealed large ischaemic strokes extending beyond the classical vascular territories...
June 2017: Malawi Medical Journal: the Journal of Medical Association of Malawi
https://www.readbyqxmd.com/read/28852709/ataxia-pancytopenia-syndrome-with-samd9l-mutations
#6
Sorina Gorcenco, Jonna Komulainen-Ebrahim, Karin Nordborg, Maria Suo-Palosaari, Sten Andréasson, Johanna Krüger, Christer Nilsson, Ulrika Kjellström, Elisa Rahikkala, Dominik Turkiewicz, Mikael Karlberg, Lars Nilsson, Jörg Cammenga, Ulf Tedgård, Josef Davidsson, Johanna Uusimaa, Andreas Puschmann
OBJECTIVE: We describe the neurologic, neuroradiologic, and ophthalmologic phenotype of 1 Swedish and 1 Finnish family with autosomal dominant ataxia-pancytopenia (ATXPC) syndrome and SAMD9L mutations. METHODS: Members of these families with germline SAMD9L c.2956C>T, p.Arg986Cys, or c.2672T>C, p.Ile891Thr mutations underwent structured interviews and neurologic and ophthalmologic examinations. Neuroimaging was performed, and medical records were reviewed...
October 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28840068/a-case-of-symptomatic-spinal-dural-arteriovenous-fistula-after-high-volume-lumbar-puncture
#7
Thomas Noh, Rahul Chandra, Jimmy Kim, Ian Lee
BACKGROUND: Spinal dural arteriovenous fistulas (DAVFs) are rare lesions that lead to venous congestion and ischemic injury resulting in neurologic deterioration. Here we present a patient diagnosed with glioblastoma multiforme (GBM) who became symptomatic from a spinal DAVF after a diagnostic high-volume lumbar puncture (LP). CASE DESCRIPTION: When a 72-year-old female developed partial seizures in her left upper extremity without other focal neurological deficits, she underwent a magnetic resonance imaging (MRI) scan of the brain...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28804760/autopsy-case-of-the-c12orf65-mutation-in-a-patient-with-signs-of-mitochondrial-dysfunction
#8
Hideaki Nishihara, Masatoshi Omoto, Masaki Takao, Yujiro Higuchi, Michiaki Koga, Motoharu Kawai, Hiroo Kawano, Eiji Ikeda, Hiroshi Takashima, Takashi Kanda
OBJECTIVE: To describe the autopsy case of a patient with a homozygous 2-base deletion, c171_172delGA (p.N58fs), in the C12orf65 gene. METHODS: We described the clinical history, neuroimaging data, neuropathology, and genetic analysis of the patients with C12orf65 mutations. RESULTS: The patient was a Japanese woman with a history of delayed psychomotor development, primary amenorrhea, and gait disturbance in her 20s. She was hospitalized because of respiratory failure at the age of 60...
August 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28755567/microcephaly-and-zika-virus-neuroradiological-aspects-clinical-findings-and-a-proposed-framework-for-early-evaluation-of-child-development
#9
Nelci Adriana Cicuto Ferreira Rocha, Ana Carolina de Campos, Fellipe Cicuto Ferreira Rocha, Fernanda Pereira Dos Santos Silva
BACKGROUND AND AIMS: As the recent outbreak of microcephaly cases caused by Zika virus has been declared a global health emergency, providing assessment guidelines for multidisciplinary teams providing early developmental screening and stimulation to infants with microcephaly is much needed. Thus, the aim of this manuscript is to provide an overview on what is known about neuroradiological aspects and clinical findings in infants with microcephaly caused by Zika virus and to propose a framework for early evaluation of child development...
November 2017: Infant Behavior & Development
https://www.readbyqxmd.com/read/28589049/chronic-lymphocytic-inflammation-with-pontine-perivascular-enhancement-responsive-to-steroids-with-cranial-and-caudal-extension
#10
Mahmood Mubasher, Aseel Sukik, Ahmed Hassan El Beltagi, Ali Rahil
A 23-year-old lady presented with vertigo and imbalance in walking, blurring of vision, diplopia, and headache, in addition to numbness in the lower limbs over a period of six days. On examination patient had nystagmus, ataxia, positive Romberg test, and hyperreflexia. MRI examination of the brain and spinal cord showed evidence of faint bright signal intensity foci in T2/FLAIR involving bilateral cerebral hemispheres, subcortical deep white matter, bilateral thalami, posterior pons and left brachium pontis, and basal ganglia, with small nodular enhancement that aligned along curvilinear structures; those lesions also were apparent along the spinal cord at multiple levels...
2017: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/28542277/first-report-of-a-japanese-family-with-spinocerebellar-ataxia-type-10-the-second-report-from-asia-after-a-report-from-china
#11
Hiroyuki Naito, Tetsuya Takahashi, Masaki Kamada, Hiroyuki Morino, Hiroyo Yoshino, Nobutaka Hattori, Hirofumi Maruyama, Hideshi Kawakami, Masayasu Matsumoto
Spinocerebellar ataxia type 10 (SCA10) is an autosomal-dominant cerebellar ataxia that is variably accompanied by epilepsy and other neurological disorders. It is caused by an expansion of the ATTCT pentanucleotide repeat in intron 9 of the ATXN10 gene. Until now, SCA10 was almost exclusively found in the American continents, while no cases had been identified in Japan. Here, we report the first case of an SCA10 family from Japan. The clinical manifestations in our cases were cerebellar ataxia accompanied by epilepsy, hyperreflexia and cognitive impairment...
2017: PloS One
https://www.readbyqxmd.com/read/28345801/zc4h2-deletions-can-cause-severe-phenotype-in-female-carriers
#12
Cristina Zanzottera, Donatella Milani, Enrico Alfei, Ambra Rizzo, Stefano D'Arrigo, Susanna Esposito, Chiara Pantaleoni
ZC4H2 is involved in human brain development, and, if mutated, can be responsible for a rare X-linked disorder, originally presented in literature as Wieacker-Wolff syndrome and Miles-Carpenter syndrome. In males, severe intellectual disability is associated with variable symptoms of central and peripheral nervous system involvement, such as spasticity, hyperreflexia, muscle weakness, and arthrogryposis. Female carriers are usually described as asymptomatic or only mildly affected. Here, we report on a girl carrying a de novo deletion of ZC4H2 detected by array-CGH analysis...
May 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27928380/facial-dystonia-with-facial-grimacing-and-vertical-gaze-palsy-with-round-the-houses-sign-in-a-29-year-old-woman
#13
J Crespi, G Bråthen, P Quist-Paulsen, J Pagonabarraga, C Roig-Arnall
A 29-year-old woman developed progressive dysarthria and coordination problems from the age of 15. Examination showed dysarthria, facial dystonia, bibrachial dystonia, hyperreflexia, ataxia, and emotional incontinence. Downward supranuclear gaze palsy was prominent with a "Round the Houses" sign. Magnetic resonance imaging of the brain and medulla, electroneurography, and cerebrospinal fluid were normal. A computed tomography scan showed hepatosplenomegaly. This combination of progressive neurological symptoms together with hepatosplenomegaly was suggestive of inborn error of metabolism...
February 2016: Neuro-ophthalmology
https://www.readbyqxmd.com/read/27606120/suprasellar-clear-cell-meningioma-in-an-infant
#14
Charles C Anunobi, Olufemi Bankole, Nzechukwu Z Ikeri, Nurudeen A Adeleke
Clear cell meningiomas are an uncommon subtype of meningioma rarely seen in infancy. We report a case of clear cell meningioma in an 8-month-old male infant. He presented at the Lagos University Teaching Hospital, Lagos, Nigeria, in 2015 with persistent vomiting, poor feeding and failure to thrive over a four month period. Generalised hypertonia and hyperreflexia were noted on examination. Computed tomography of the brain revealed a huge largely isodense suprasellar mass with a hypodense core. The tumour, which measured 6 × 5 × 4 cm, enhanced non-uniformly with contrast injection and extended to occlude the third ventricle...
August 2016: Sultan Qaboos University Medical Journal
https://www.readbyqxmd.com/read/27456886/longstanding-spastic-paraparesis-in-a-patient-infected-with-hepatitis-c-virus-and-seropositive-for-aquaporin-4-antibody-case-report-and-review-of-the-literature
#15
REVIEW
João Dias Ferreira, Ana Castro Caldas, João Correia de Sá, Ruth Geraldes
Nervous system involvement in Hepatitis C virus infection (HCV) has been associated to neuro-immunological deregulation, particularly in interferon-alpha treated patients. We present a case of optic and brainstem demyelinating disorder associated with aquaporin-4 (AQP4) antibodies. A 48 year-old woman, with previous diagnosis of non-treated hepatitis C, presented with a 10-year history of long-standing gait disturbance. Neurological examination disclosed a grade 4 spastic paraparesis, lower limb hyperreflexia, right positive Hoffmann sign, bilateral Babinski sign and spastic gait only possible with bilateral support...
July 2016: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/26893771/reversible-posterior-leukoencephalopathy-syndrome-following-combinatorial-cisplatin-and-pemetrexed-therapy-for-lung-cancer-in-a-normotensive-patient-a-case-report-and-literature-review
#16
Changqing Xie, Vovanti T Jones
Reversible posterior leukoencephalopathy syndrome (RPLS) is a rare neurological syndrome of the brain, causing symptoms such as headaches, seizures, altered mental status and visual disturbances. The condition is predominantly associated with hypertension, eclampsia, renal impairment, cytotoxic drugs, immunosuppressive agents and molecular targeted agents, but the precise underlying mechanism of RPLS is not fully understood. The present study describes the case of a 65-year-old female patient with stage IIA non-small cell lung cancer who received cisplatin/pemetrexed treatment at the Leo W...
February 2016: Oncology Letters
https://www.readbyqxmd.com/read/26844510/a-case-report-of-locked-in-syndrome-due-to-bilateral-vertebral-artery-dissection-after-cervical-spine-manipulation-treated-by-arterial-embolectomy
#17
Jiang-Qiong Ke, Bo Yin, Fang-Wang Fu, Sheng-Min Shao, Yan Lin, Qi-Qiang Dong, Xiao-Tong Wang, Guo-Qing Zheng
Cervical spine manipulation (CSM) is a commonly spinal manipulative therapies for the relief of cervical spine-related conditions worldwide, but its use remains controversial. CSM may carry the potential for serious neurovascular complications, primarily due to vertebral artery dissection (VAD) and subsequent vertebrobasilar stroke. Here, we reported a rare case of locked-in syndrome (LIS) due to bilaterial VAD after CSM treated by arterial embolectomy.A 36-year-old right-handed man was admitted to our hospital with numbness and weakness of limbs after treating with CSM for neck for half an hour...
February 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/26381321/a-mild-case-of-giant-axonal-neuropathy-without-central-nervous-system-manifestation
#18
Reiko Koichihara, Takashi Saito, Akihiko Ishiyama, Hirofumi Komaki, Shota Yuasa, Yoshiaki Saito, Eiji Nakagawa, Kenji Sugai, Takashi Shiihara, Ayako Shioya, Yuko Saito, Yujiro Higuchi, Akihiro Hashiguchi, Hiroshi Takashima, Masayuki Sasaki
An 11-year-old boy presented with progressive walking disturbances. He exhibited severe equinovarus feet that together presented with hyperreflexia of the patellar tendon and extensor plantar, resembling spastic paraplegia or upper neuron disease. He showed mild distal muscle atrophy, as well. We did not observe signs of cognitive impairment, cerebellar signs, or brain magnetic resonance imaging abnormalities. Nerve biopsy showed giant axon swellings filled with neurofilaments. Gene analysis revealed novel compound heterozygous missense mutations in the gigaxonin gene, c...
March 2016: Brain & Development
https://www.readbyqxmd.com/read/26340331/neuropathology-and-cellular-pathogenesis-of-spinocerebellar-ataxia-type-12
#19
Elizabeth E O'Hearn, Hyon S Hwang, Susan E Holmes, Dobrila D Rudnicki, Daniel W Chung, Ana I Seixas, Rachael L Cohen, Christopher A Ross, John Q Trojanowski, Olga Pletnikova, Juan C Troncoso, Russell L Margolis
OBJECTIVE: SCA12 is a progressive autosomal-dominant disorder, caused by a CAG/CTG repeat expansion in PPP2R2B on chromosome 5q32, and characterized by tremor, gait ataxia, hyperreflexia, dysmetria, abnormal eye movements, anxiety, depression, and sometimes cognitive impairment. Neuroimaging has demonstrated cerebellar and cortical atrophy. We now present the neuropathology of the first autopsied SCA12 brain and utilize cell models to characterize potential mechanisms of SCA12 neurodegeneration...
November 2015: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/26267994/intravenous-heroin-associated-delayed-spongiform-leukoencephalopathy-case-report-and-reviews-of-the-literature
#20
REVIEW
Pattarin Pirompanich, Siwaporn Chankrachang
Heroin-associated spongiform leukoencephalopathy is a rare, and sometimes fatal, condition usually caused by vapor inhalation of heroin. The authors report a 41-year-old man who was diagnosed with delayed spongiform leukoencephalopathy three weeks after injecting heroin intravenously. He had been admitted to another hospital due to acute heroin overdose, which had occurred four hours after intravenous injection of an unknown amount of heroin. His clinical condition showed progressive improvement and he was discharged 12 days after admission...
July 2015: Journal of the Medical Association of Thailand, Chotmaihet Thangphaet
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