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Hyperreflexia brain

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
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
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
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
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
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
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
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)
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
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
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
Sahar Esmaeeli Nieh, Maura R Z Madou, Minhajuddin Sirajuddin, Brieana Fregeau, Dianalee McKnight, Katrina Lexa, Jonathan Strober, Christine Spaeth, Barbara E Hallinan, Nizar Smaoui, John G Pappas, Thomas A Burrow, Marie T McDonald, Mariam Latibashvili, Esther Leshinsky-Silver, Dorit Lev, Luba Blumkin, Ronald D Vale, Anthony James Barkovich, Elliott H Sherr
OBJECTIVE: To determine the cause and course of a novel syndrome with progressive encephalopathy and brain atrophy in children. METHODS: Clinical whole-exome sequencing was performed for global developmental delay and intellectual disability; some patients also had spastic paraparesis and evidence of clinical regression. Six patients were identified with de novo missense mutations in the kinesin gene KIF1A. The predicted functional disruption of these mutations was assessed in silico to compare the calculated conformational flexibility and estimated efficiency of ATP binding to kinesin motor domains of wild-type (WT) versus mutant alleles...
June 2015: Annals of Clinical and Translational Neurology
Gaurav M Kasundra, Amita Narendra Bhargava, Bharat Bhushan, Khichar Shubhakaran, Isha Sood
A 22-year-old male student with no past medical illness, presented with acute onset dysarthria, binocular diplopia, and dysphagia over 10 hours. On examination, he had tachycardia, hypertension, generalized hyper-reflexia, and bilateral pupil sparing oculomotor, troclear, abducens, trigeminal, facial, glossopharyngeal, and vagus nerve palsy. Rest examination was unremarkable. Facial nerve conduction study (NCS) showed decreased amplitude bilaterally and neurogenic pattern on electromyography. Limb NCS, repetitive nerve stimulation, neostigmine test, brain magnetic resonance imaging, cerebrospinal fluid, and biochemical tests were normal...
April 2015: Annals of Indian Academy of Neurology
Kiyoshi Kanno, Syogo Kin, Masaki Hirose, Satoshi Suzuki, Takafumi Watanabe, Keiya Fujimori
A 16-year-old girl with no prior medical history developed vertigo and nausea following alimentary infection. Neurological examination showed limb and truncal ataxia, opsoclonus, myoclonus, and hyperreflexia. Brain magnetic resonance imaging and cerebrospinal fluid analysis showed no abnormalities. Treatment with i.v. high-dose methylprednisolone and immunoglobulin was started, but this proved ineffective. The clinical course was unusual, so whole-body computed tomography was done to evaluate other differential diagnoses...
July 2015: Journal of Obstetrics and Gynaecology Research
Bhavesh Trikamji, Parampreet Singh, Shrikant Mishra
Spino-cerebellar ataxia type 10 (SCA10) is an autosomal dominant disorder that is characterized by cerebellar ataxia, seizures and nystagmus with a fragmented pursuit. Schizophrenia has been reported with SCAs 1 and 2 yet in SCA 10, psychiatric manifestations are uncommon. We report a Hispanic family involving a father and his four children with SCA10 genetic mutation. Two of his children, a 20-year-old female and a 23-year-old male, presented with gradually progressive spino-cerebellar ataxia and paranoid schizophrenia...
January 2015: Annals of Indian Academy of Neurology
Tao Hu, Bi Zhao, Qian-qian Wei, Huifang Shang
In a Chinese family with Spinocerebellar ataxia type 12 (SCA12), presenting with action tremor, mild cerebellar dysfunction, and hyperreflexia, genetic testing revealed abnormal CAG repeat length in the brain-specific protein phosphatase 2, regulatory subunit B, beta isoform (PPP2R2B) gene. To our knowledge, this is the first report on patients with SCA12 presenting with prominent cerebral white matter change besides cerebral and/or cerebellar atrophy.
February 15, 2015: Journal of the Neurological Sciences
Jan Larsen, Gemma L Carvill, Elena Gardella, Gerhard Kluger, Gudrun Schmiedel, Nina Barisic, Christel Depienne, Eva Brilstra, Yuan Mang, Jens Erik Klint Nielsen, Martin Kirkpatrick, David Goudie, Rebecca Goldman, Johanna A Jähn, Birgit Jepsen, Deepak Gill, Miriam Döcker, Saskia Biskup, Jacinta M McMahon, Bobby Koeleman, Mandy Harris, Kees Braun, Carolien G F de Kovel, Carla Marini, Nicola Specchio, Tania Djémié, Sarah Weckhuysen, Niels Tommerup, Monica Troncoso, Ledia Troncoso, Andrea Bevot, Markus Wolff, Helle Hjalgrim, Renzo Guerrini, Ingrid E Scheffer, Heather C Mefford, Rikke S Møller
OBJECTIVE: SCN8A encodes the sodium channel voltage-gated α8-subunit (Nav1.6). SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders. We aimed to delineate the phenotype associated with SCN8A mutations. METHODS: We used high-throughput sequence analysis of the SCN8A gene in 683 patients with a range of epileptic encephalopathies. In addition, we ascertained cases with SCN8A mutations from other centers. A detailed clinical history was obtained together with a review of EEG and imaging data...
February 3, 2015: Neurology
Takayuki Kosaka, Satoru Tawara, Masahiro Harada, Takeshi Takahashi, Toshihiko Murayama
We report an autopsy case with progressive muscular atrophy of 6 years' duration. The patient was a Japanese woman without any hereditary predisposition to neuropathy. She developed muscle weakness of the upper extremities at 66 years of age, followed by muscle weakness of the lower extremities, fasciculation, and atrophy of the tongue. She died at 72 years of age from fat embolism of the lung. During the clinical course of her illness, neither Babinski sign nor hyperreflexia were present on neurological examination...
November 2014: Brain and Nerve, Shinkei Kenkyū No Shinpo
William Oliver Tobin, Vanda A Lennon, Lars Komorowski, Christian Probst, Stacey Lynn Clardy, Allen J Aksamit, Juan Pablo Appendino, Claudia F Lucchinetti, Joseph Y Matsumoto, Sean J Pittock, Paola Sandroni, Maja Tippmann-Peikert, Elaine C Wirrell, Andrew McKeon
OBJECTIVE: To describe the detection frequency and clinical associations of immunoglobulin G (IgG) targeting dipeptidyl-peptidase-like protein-6 (DPPX), a regulatory subunit of neuronal Kv4.2 potassium channels. METHODS: Specimens from 20 patients evaluated on a service basis by tissue-based immunofluorescence yielded a synaptic immunostaining pattern consistent with DPPX-IgG (serum, 20; CSF, all 7 available). Transfected HEK293 cell-based assay confirmed DPPX specificity in all specimens...
November 11, 2014: Neurology
Naohisa Miyakoshi, Michio Hongo, Yuji Kasukawa, Yoichi Shimada
INTRODUCTION: Anomalies in the craniovertebral junction may be a rare cause of syncope. The mechanisms of syncope related to craniovertebral junction anomaly remain unknown.We present an extremely rare case with anomaly in the craniovertebral junction and syncope, and discuss the mechanism of the syncope. CASE PRESENTATION: A 10-year-old Japanese boy with a congenital anomaly in the craniovertebral junction presented with recurrent syncope. A physical examination showed generalized hyperreflexia, but motor and sensory examinations were normal...
2014: Journal of Medical Case Reports
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