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Ross syndrome is a rare syndrome consisting of areflexia, tonic pupil and segmental anhidrosis. It has been shown to accompany neuropsychiatric diseases such as psychiatric disorders, headache, and epilepsy. We report here a 19-year-old female who was the first case in which cyclic vomiting syndrome plus was shown to accompany Ross syndrome. [ABSTRACT FROM AUTHOR]

Abstract Background Miller Fisher syndrome (MFS) is a subtype of Guillain-Barré syndrome (GBS) which is characterized by the three components of ophthalmoplegia, ataxia, and areflexia. Some studies reported MFS as an adverse effect of the COVID-19 vaccination. We aimed to have a detailed evaluation on demographic, clinical, and para-clinical characteristics of subjects with MFS after receiving COVID-19 vaccines. Materials and methods A thorough search strategy was designed, and PubMed, Web of Science, and Embase were searched to find relevant articles. Each screening step was done by twice, and in case of disagreement, another author was consulted. Data on different characteristics of the patients and types of the vaccines were extracted. The risk of bias of the studies was assessed using Joanna Briggs Institute (JBI) tools. Results In this study, 15 patients were identified from 15 case studies. The median age of the patients was 64, ranging from 24 to 84 years. Ten patients (66.6%) were men and Pfizer made up 46.7% of the injected vaccines. The median time from vaccination to symptoms onset was 14 days and varied from 7 to 35 days. Furthermore,14 patients had ocular signs, and 78.3% (11/14) of ocular manifestations were bilateral. Among neurological conditions, other than MFS triad, facial weakness or facial nerve palsy was the most frequently reported side effect that was in seven (46.7%) subjects. Intravenous immunoglobulin (IVIg) was the most frequently used treatment (13/15, 86.7%). Six patients received 0.4 g/kg and the four had 2 g/kg. Patients stayed at the hospital from five to 51 days. No fatal outcomes were reported. Finally, 40.0% (4/15) of patients completely recovered, and the rest experienced improvement. Conclusion MFS after COVID-19 immunization has favorable outcomes and good prognosis. However, long interval from disease presentation to treatment in some studies indicates that more attention should be paid to MFS as the adverse effect of the vaccination. Due to the challenging diagnosis, MFS must be considered in list of the differential diagnosis in patients with a history of recent COVID-19 vaccination and any of the ocular complaints, ataxia, or loss of reflexes, specially for male patients in their 60s and 70s.

Background: Miller Fisher syndrome (MFS) is a subtype of Guillain-Barré syndrome (GBS) which is characterized by the three components of ophthalmoplegia, ataxia, and areflexia. Some studies reported MFS as an adverse effect of the COVID-19 vaccination. We aimed to have a detailed evaluation on demographic, clinical, and para-clinical characteristics of subjects with MFS after receiving COVID-19 vaccines. Materials and methods: A thorough search strategy was designed, and PubMed, Web of Science, and Embase were searched to find relevant articles. Each screening step was done by twice, and in case of disagreement, another author was consulted. Data on different characteristics of the patients and types of the vaccines were extracted. The risk of bias of the studies was assessed using Joanna Briggs Institute (JBI) tools. Results: In this study, 15 patients were identified from 15 case studies. The median age of the patients was 64, ranging from 24 to 84 years. Ten patients (66.6%) were men and Pfizer made up 46.7% of the injected vaccines. The median time from vaccination to symptoms onset was 14 days and varied from 7 to 35 days. Furthermore,14 patients had ocular signs, and 78.3% (11/14) of ocular manifestations were bilateral. Among neurological conditions, other than MFS triad, facial weakness or facial nerve palsy was the most frequently reported side effect that was in seven (46.7%) subjects. Intravenous immunoglobulin (IVIg) was the most frequently used treatment (13/15, 86.7%). Six patients received 0.4 g/kg and the four had 2 g/kg. Patients stayed at the hospital from five to 51 days. No fatal outcomes were reported. Finally, 40.0% (4/15) of patients completely recovered, and the rest experienced improvement. Conclusion: MFS after COVID-19 immunization has favorable outcomes and good prognosis. However, long interval from disease presentation to treatment in some studies indicates that more attention should be paid to MFS as the adverse effect of the vaccination. Due to the challenging diagnosis, MFS must be considered in list of the differential diagnosis in patients with a history of recent COVID-19 vaccination and any of the ocular complaints, ataxia, or loss of reflexes, specially for male patients in their 60s and 70s. [ABSTRACT FROM AUTHOR]

Introduction/Aims: Studies conducted during the coronavirus disease 2019 (COVID-19) pandemic have reported varied data regarding the incidence of Guillain–Barre syndrome (GBS). The present study investigated demographic and clinical features, management, and outcomes of patients with GBS during a specified period of the COVID-19 pandemic, and compared these features to those of GBS in the previous year. Methods: A multicenter, ambispective cohort study including 26 centers across India was conducted. Data from a pre-COVID-19 period (March 1 to August 31, 2019) were collected retrospectively and collected ambispectively for a specified COVID-19 period (March 1 to August 31, 2020). The study was registered with the Clinical Trial Registry India (CTRI/2020/11/029143). Results: Data from 555 patients were included for analysis: pre-COVID-19 (n = 334) and COVID-19 (n = 221). Males were more commonly affected during both periods (male:female, 2:1). Gastroenteritis was the most frequent antecedent event in 2019 (17.4%), whereas fever was the most common event in 2020 (10.7%). Paraparesis (21.3% versus [vs.] 9.3%, P = 0.001) and sensory involvement (51.1% vs. 41.3%; P = 0.023) were more common during COVID-19 in 2020, whereas back pain (26.3% vs. 18.4%; P = 0.032) and bowel symptoms (20.7% vs. 13.7%; P = 0.024) were more frequent in the pre-COVID period. There was no difference in clinical outcomes between the two groups in terms of GBS disability score at discharge and 3 months after discharge. Independent predictors of disability in the pre-COVID period included areflexia/hyporeflexia, the requirementfor intubation, and time to bulbar weakness; in the COVID-19 period, independent predictors included time from onset to admission, intubation, and intubation requirement. The mortality rate was 2.3% during the entire study period (13/555 cases). Discussion: Results of this study revealed an overall reduction in the frequency of GBS during the pandemic. The lockdown likely reduced the risk for antecedent infections due to social distancing and improved hygiene, which may have resulted in the reduction of the frequency of GBS.

When weighing the costs and benefits of "choosing wisely," in a healthcare climate that continues to stress cost-saving practices, it is difficult to argue with approaching low-risk patients with conservative approaches and treatments. In defense of liberal and broad approaches to patient workups, however, one must also weigh the bounce-back emergency department (ED) visit, which may represent either a failure of initial evaluation or a success of appropriate return precautions. An 18-year-old male presented to the ED with two days of urinary retention, abdominal pain, and subjective fever, was discharged with urology follow-up and doxycycline, and subsequently returned to the ED in <24 h with inability to stand and loss of reflexes in bilateral lower extremities. Magnetic Resonance Imaging (MRI) of the brain and spine demonstrated extensive and multifocal areas of signal abnormalities consistent with active demyelination concerning for acute disseminated encephalomyelitis (ADEM). Additional lab workup demonstrated seropositive myelin oligodendrocyte glycoprotein (MOG) antibodies, further supporting the diagnosis of ADEM, an immune-mediated disorder which can lead to rapid multifocal neurologic dysfunction. [ABSTRACT FROM AUTHOR]

Introduction: Miller-Fisher Syndrome (MFS) is a variant of Guillain-Barré syndrome (GBS), an acute immune-mediated neuropathy, which manifests as a rapidly evolving areflex motor paralysis. This syndrome presents as a classic triad: ophthalmoplegia, areflexia, and ataxia. MFS is usually benign and self-limited.Case Report: A Caucasian patient was admitted to our hospital with the flu, loss of bilateral strength in the lower limbs and upper limbs and sudden-onset ataxia 7 days after receiving a first dose of the Oxford/AstraZeneca COVID-19 vaccine. On neurological examination, the patient had Glasgow Coma Scale score of 15, with absence of meningeal signs; negative Babinski sign; grade 2 strength in the lower limbs and grade 4 strength in the upper limbs; axial and appendicular cerebellar ataxia; and peripheral facial diparesis predominantly on the right, without conjugate gaze deviation. Cerebrospinal fluid (CSF) was collected on admission, and analysis revealed albuminocytological dissociation with CSF protein of 148.9 mg/dL; leukocytes, 1; chlorine, 122; glucose, 65 mg/mL; red cells, 2; and non-reactive venereal disease research laboratory test result. The COVID-19 IgG/IgM rapid immunological test was negative. Electroneuromyography revealed a recent moderate-grade and primarily sensory and motor demyelinating polyneuropathy with associated proximal motor block.Discussion and Conclusion: Miller-Fisher Syndrome may be related to events other than infections prior to neuropathy, as in the case reported here. The patient presented strong correlations with findings for MFS reported in the literature, such as the clinical condition, the results of electroneuromyography, and results of the CSF analysis typical for MFS. When treatment was provided as proposed in the literature, the disease evolved with improvement. Ultimately, the diagnosis of incomplete MFS was made, including acute ataxic neuropathy (without ophthalmoplegia). [ABSTRACT FROM AUTHOR]

Introduction/Aims: Studies conducted during the coronavirus disease 2019 (COVID 19) pandemic have reported varied data regarding the incidence of Guillain--Barre syndrome (GBS). The present study investigated demographic and clinical features, management, and outcomes of patients with GBS during a specified period of the COVID 19 pandemic, and compared these features to those of GBS in the previous year. Methods: A multicenter, ambispective cohort study including 26 centers across India was conducted. Data from a pre COVID 19 period (March 1 to August 31, 2019) were collected retrospectively and collected ambispectively for a specified COVID 19 period (March 1 to August 31, 2020). The study was registered with the Clinical Trial Registry India (CTRI/2020/11/029143). Results: Data from 555 patients were included for analysis: pre COVID 19 (n = 334) and COVID 19 (n = 221). Males were more commonly affected during both periods (male:female, 2:1). Gastroenteritis was the most frequent antecedent event in 2019 (17.4%), whereas fever was the most common event in 2020 (10.7%). Paraparesis (21.3% versus [vs.] 9.3%, P = 0.001) and sensory involvement (51.1% vs. 41.3%; P = 0.023) were more common during COVID 19 in 2020, whereas back pain (26.3% vs. 18.4%; P = 0.032) and bowel symptoms (20.7% vs. 13.7%; P = 0.024) were more frequent in the pre COVID period. There was no difference in clinical outcomes between the two groups in terms of GBS disability score at discharge and 3 months after discharge. Independent predictors of disability in the pre COVID period included areflexia/hyporeflexia, the requirementfor intubation, and time to bulbar weakness; in the COVID 19 period, independent predictors included time from onset to admission, intubation, and intubation requirement. The mortality rate was 2.3% during the entire study period (13/555 cases). Discussion: Results of this study revealed an overall reduction in the frequency of GBS during the pandemic. The lockdown likely reduced the risk for antecedent infections due to social distancing and improved hygiene, which may have resulted in the reduction of the frequency of GBS. [ABSTRACT FROM AUTHOR]

Ross syndrome is a rare clinical disorder of sweating associated with tonic pupil and areflexia. There are very few case reports of Ross syndrome in dermatology literature, most presenting with patchy hyperhidrosis. Here, we report two isolated cases who had presented to the emergency department with heat exhaustion. Multidisciplinary evaluations of the first case revealed focal anhidrosis, patchy hyperhidrosis, postural hypotension, absent deep tendon reflex, and tonic pupil while the second case had similar features except for postural hypotension, prompting the diagnosis of Ross syndrome. Presentation of these two patients highlights the importance of a high index of suspicion of dysautonomic disorder, interdisciplinary workup of a case of patchy anhidrosis, or hyperhidrosis, which may get missed in busy outpatient department (OPD) visit. [ABSTRACT FROM AUTHOR]

We describe the underlying genetic cause of a novel Rett‐like phenotype accompanied by areflexia in three methyl‐CpG‐binding protein 2‐negative individuals from two unrelated families. Discovery analysis was performed using whole‐exome sequencing followed by Sanger sequencing for validation and segregation. Functional studies using short‐hairpin RNA for targeted gene knockdown were implemented by the transfection of mouse cultured primary hippocampal neurons and in vivo by in utero electroporation. All patients shared a common homozygous frameshift mutation (chr9:135073515, c.376dupT, p.(Ser126PhefsTer241)) in netrin‐G2 (NTNG2, NM_032536.3) with predicted nonsense‐mediated decay. The mutation fully segregated with the disease in both families. The knockdown of either NTNG2 or the related netrin‐G family member NTNG1 resulted in severe neurodevelopmental defects of neuronal morphology and migration. While NTNG1 has previously been linked to a Rett syndrome (RTT)‐like phenotype, this is the first description of a RTT‐like phenotype caused by NTNG2 mutation. Netrin‐G proteins have been shown to be required for proper axonal guidance during early brain development and involved in N‐methyl‐ d‐aspartate‐mediated synaptic transmission. Our results demonstrating that knockdown of murine NTNG2 causes severe impairments of neuronal morphology and cortical migration are consistent with those of RTT animal models and the shared neurodevelopmental phenotypes between the individuals described here and typical RTT patients. [ABSTRACT FROM AUTHOR]

PIEZO2 encodes a mechanically activated cation channel, which is abundantly expressed in dorsal root ganglion neuron and sensory endings of proprioceptors required for light touch sensation and proprioception in mice. Biallelic loss‐of‐function mutations in PIEZO2 (i.e., PIEZO2 deficiency) were recently found to cause an arthrogryposis syndrome. Sixteen patients from eight families have been reported to date. Herein we report a new case, including detailed clinical characteristics and courses as well as comprehensive neurological features. The patient was a 12‐year‐old girl presenting with congenital multiple contractures, progressive severe scoliosis, prenatal‐onset growth impairment, motor developmental delay with hypotonia and myopathy‐like muscle pathology, mild facial features, and normal intelligence. Her neurological features included areflexia, impaired proprioception, and decreased senses. Neurophysiological examination revealed decreased amplitude of sensory nerve action potentials, absent H reflex, and prolongation of central conduction times. Clinical exome sequencing revealed a novel homozygous frameshift mutation in PIEZO2 (NM_022068: c.4171_4174delGTCA: p.Val1391Lysfs*39) with no detectable mRNA expression of the gene. PIEZO2 deficiency represents a clinical entity involving characteristic neuromuscular abnormalities and physical features. Next generation sequencing‐based comprehensive molecular screening and extensive neurophysiological examination could be valuable for diagnosis of the disorder. [ABSTRACT FROM AUTHOR]

Abstract Background The initial symptoms of Guillain-Barre Syndrome (GBS) can be similar to a case of spontaneous spinal epidural hematoma (SSEH) located at the cervicothoracic junction. Therefore, SSEH may be misdiagnosed as GBS. Case Report: A previously healthy 6-year-old girl presented with a 2-day history of progressive pain in the lower extremities and an inability to walk. On initial evaluation, she was completely paraparetic in the lower extremities. Deep tendon reflexes were absent in the lower extremities, and Babinski reflexes were positive on both sides. She exhibited reduced response to light touch and pinprick with a sensory level below T10, and experienced difficulty during urination. However, the strength, sensation and flexion of upper extremities were normal. Because her presentation and examinations were consistent with GBS, we initiated intravenous immunoglobulin therapy. The next day, she also developed pain and muscle weakness of the right upper extremity. Three days after admission, respiratory depression progressed rapidly. Spinal MRI showed a mass extending from the level of C7-T3, with spinal cord compression. The patient underwent an emergency laminectomy with evacuation of hematoma, and was diagnosed with SSEH. Sixty days after admission, she was transferred to the rehabilitation hospital with severe neurologic sequelae of paralysis in both legs. Conclusion: SSEH might have severe consequences, including neurologic deficits and risk of death. This case report serves to raise the awareness of SSEH that mimics the initial presentation of GBS. [ABSTRACT FROM AUTHOR]

Guillain-Barré syndrome is a complicated degenerative neurological disorder which can be either acute or chronic in nature. Guillain-Barré syndrome is an acquired condition and is characterized by progressive, symmetrical, proximal and distal tingling and weakness. Muscle stretch reflexes are decreased to absent and loss of sensation is common. A 4-year female child with no significant past medical history who presented with progressive weakness involving both upper and lower limbs over 48 to 72 h and complaints of tachypnea and hypotonia involving all group of muscles was admitted in Sri Venkateswara Ramnarayan Ruia Government General Hospital, Tirupati. In the present report, the main clinical aspects and features of Guillain-Barré syndrome along with the multidisciplinary approach to the acute phase combining supportive and high dose of immunoglobulin therapy were practiced. Patient should have follow-up within 2 weeks after the acute syndrome to evaluate for relapse, at which point repeat intravenous immunoglobulin. Thereafter, follow-up is necessary for every 4–6 weeks for 6 months, then 6 months for 1 year and then yearly.

Miller Fisher Syndrome (MFS) is a rare variant of Guillain-Barre Syndrome. It involves both adults and children and it comprises a classic triad of ophthalmoplegia, ataxia and areflexia which all develop over a period of few days. Male, 55-year-old, presented to the emergency department with headache, difficulty in vision and unsteadiness in walking for 5 days. Neurological examination revealed marked ophthalmoplegia with severe decreased movements on lateral, medial and upward gaze. A global areflexia was present. Lumbar puncture was performed and revealed cytoalbuminologic dissociation in the CSF. The patient was treated with intravenous immune globulin for seven days with positive response. MFS diagnoses is mostly a clinical diagnosis, so an early identification of the disease and treatment with gamma globulin can greatly modify the evolution and allow a more favourable prognosis, even if the actual pathophysiological process involved in this disease is not yet known.

Ross syndrome is a rare disorder of thermoregulation and includes a triad of tonic pupil, anhidrosis/hypohidosis and areflexia. Here we describe one such case in a 40-year-old woman. A general awareness among physicians, dermatologists and ophthalmologists regarding this disease can alleviate unnecessary anxiety and avoid unnecessary investigations. [ABSTRACT FROM AUTHOR]

Background: Unilateral anterior spinal artery (ASA) occlusion resulting in bilateral medullary pyramidal (BMP) infarction is a rare and devastating stroke subtype. We present two cases highlighting the diagnostic and clinical challenges of BMP infarction.Methods: Case reports and literature review.Results: A 57-year-old man rapidly had severe vomiting and diarrhea 2 h after a meal. Examination revealed bulbar weakness and areflexic tetraplegia. Respiratory failure developed, requiring intubation and mechanical ventilation. Brain magnetic resonance imaging (MRI) showed a heart-shaped region of diffusion abnormality, characteristic of BMP infarction. Cerebral angiography showed an occluded left vertebral artery with unilateral left-sided origin of ASA. The patient required tracheostomy and percutaneous gastrostomy tube and was discharged to rehabilitation, with little improvement of his tetraplegia at 3-month follow-up. A 43-year-old woman presented to the emergency department with acute onset of lower-extremity paresthesia and history of upper respiratory infection 2 weeks prior. Initial examination findings included bulbar weakness, dysphagia, hyporeflexia, and generalized weakness. After admission, she had severe respiratory distress and required intubation. Lumbar puncture was evaluated for Guillain-Barré syndrome, but cerebrospinal fluid protein concentration was normal. Changes on diffusion-weighted MRI of the brain showed the characteristic heart-shaped BMP infarction, indicating occlusion of a unilateral ASA. She required tracheostomy and percutaneous gastrostomy tube placement, with no paralysis resolution.Conclusion: Acute BMP infarction may present with flaccid tetraplegia mimicking neuromuscular disorders. When the infarction is recognized early, intravenous thrombolysis can be considered to reduce morbidity of this rare stroke subtype. [ABSTRACT FROM AUTHOR]

CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare neurological disorder, recently associated with the c.2452G > A hotspot mutation in the ATP1A3 gene, with sensorineural hearing loss as a prominent feature. We herein report on a girl who has experienced hearing loss for three years following an initial encephalitic episode when aged 15 months old. CAPOS was diagnosed only when she was six years old by targeted testing whilst she displayed optic atrophy, cerebellar signs and areflexia. CAPOS syndrome should be considered in the differential diagnosis of acquired childhood deafness, prompting clinicians to search for associated neurological features. [ABSTRACT FROM AUTHOR]

Guillain-Barre Syndrome is very rare in parasitic and rickettsial infection. Here we report a case of Plasmodium falciparum and scrub typhus mixed infection, presented with quadriparesis. Clinical, Serological, CSF analysis and Nerve Conduction Studies were consistent with Acute Inflammatory Demyelinating Polyneuropathy (variant of GBS). After administration of antimalarials and antibiotics for the mixed infection, patient gradually improved.

Background: Alternating hemiplegia of childhood (AHC) is a rare neurological disorder that manifests recurrent attacks of hemiplegia, oculogyric, and choreoathetotic involuntary movements. De novo mutations in ATP1A3 cause three types of neurological diseases: AHC; rapid-onset dystonia-Parkinsonism (RDP); and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndromes. It remains to be determined whether or not a rare mutation in ATP1A3 may cause atypical phenotypes.Case Presentation: A 7-year-old boy presented with recurrent symptoms of generalized paralysis since 1 year and 5 months of age. Hypotonia, dystonia, and choreoathetosis persisted with exacerbation under febrile conditions, but no cerebellar ataxia had ever evolved in 6 years. Whole-exome sequencing (WES) was performed to determine his genetic background, and mutations were validated by the Sanger method. Crude protein extracts were prepared from the cultured cells, and expression of the wild-type or mutant ATP1A3 proteins were analyzed by Western blotting. WES identified a de novo pathogenic mutation in ATP1A3 (c.2266C > T:p.R756C) for this patient. A literature overview of two reported cases with p.R756C and p.R756H mutations showed both overlapping and distinct phenotypes when compared with those of the present case. The expression of the mutant form (R756C) of ATP1A3 did not differ markedly from that of the wild-type and D801N proteins.Conclusions: This study confirmed that p.R756C mutation of ATP1A3 cause atypical forms of AHC-associated disorders. The wide spectra of neurological phenotypes in AHC are linked to as-yet-unknown deficits in the functions of mutant ATP1A3. [ABSTRACT FROM AUTHOR]

The transmembrane Na+-/K+ ATPase is located at the plasma membrane of all mammalian cells. The Na+-/K+ ATPase utilizes energy from ATP hydrolysis to extrude three Na+ cations and import two K+ cations into the cell. The minimum constellation for an active Na+-/K+ ATPase is one alpha (α) and one beta (b) subunit. Mammals express four a isoforms (α1-4), encoded by the ATP1A1-4 genes, respectively. The α1 isoform is ubiquitously expressed in the adult central nervous system (CNS) whereas α2 primarily is expressed in astrocytes and α3 in neurons. Na+ and K+ are the principal ions involved in action potential propagation during neuronal depolarization. The α1 and α3 Na+-/K+ ATPases are therefore prime candidates for restoring neuronal membrane potential after depolarization and for maintaining neuronal excitability. The α3 isoform has approximately four-fold lower Na+ affinity compared to a1 and is specifically required for rapid restoration of large transient increases in [Na+]i. Conditions associated with α3 deficiency are therefore likely aggravated by suprathreshold neuronal activity. The α3 isoform been suggested to support re-uptake of neurotransmitters. These processes are required for normal brain activity, and in fact autosomal dominant de novo mutations in ATP1A3 encoding the α3 isoform has been found to cause the three neurological diseases Rapid Onset Dystonia Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC), and Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS). All three diseases cause acute onset of neurological symptoms, but the predominant neurological manifestations differ with particularly early onset of hemiplegic/dystonic episodes and mental decline in AHC, ataxic encephalopathy and impairment of vision and hearing in CAPOS syndrome and late onset of dystonia/parkinsonism in RDP. Several mouse models have been generated to study the in vivo consequences of Atp1a3 modulation. The different mice show varying degrees of hyperactivity, gait problems, and learning disability as well as stress-induced seizures. With the advent of several Atp1a3-gene or chemically modified animal models that closely phenocopy many aspects of the human disorders, we will be able to reach a much better understanding of the etiology of RDP, AHC, and CAPOS syndrome. [ABSTRACT FROM AUTHOR]

A 56-year-old man with diabetes presented with acute diplopia and signs of bilateral complete abduction deficits. Diffuse areflexia was his only other sign at presentation. Within a few days, he developed complete ophthalmoplegia and ataxia, consistent with a clinical diagnosis of Miller-Fisher syndrome, and repeated history revealed a possible gastroenteritis 3 weeks prior. This case illustrates an “ophthalmoplegia without ataxia” variant of this classic autoimmune condition, which should be considered in patients presenting with bilateral VI nerve palsies. [ABSTRACT FROM AUTHOR]

We report the case of a 65-year-old woman who presented with acute complete bilateral ophthalmoplegia and ptosis. Deep tendon reflexes were normal and there were no signs of ataxia. On laboratory examination, the patient had vitamin B1 deficiency; however, symptoms did not improve after fursultiamine administration. Thereafter, it was found that the patient was seropositive for anti-ganglioside Q1b immunoglobulin G antibody, and she was diagnosed with acute ophthalmoplegia and ptosis associated with anti-ganglioside Q1b immunoglobulin G antibody. The patient's symptoms improved gradually without further treatment over the next several months. Ataxia and areflexia were not observed during the clinical course. [ABSTRACT FROM AUTHOR]

Purpose: There is a paucity of literature describing Guillain-Barré syndrome (GBS) in the elective orthopedic patient. We aim to report one such case following spine surgery.Methods: A morbidly obese 52-year-old male developed diminished reflexes as well as left upper and lower extremity weakness following surgical decompression and fusion at L4-5. The patient had persistent weakness and progressed to areflexia, at which point urgent lumbar puncture supported a diagnosis of GBS.Results: The patient was promptly started on intravenous immunoglobulin and made significant clinical improvement with near-complete resolution of symptoms by 3-month follow-up visit. By the sixth month, he was able to function and ambulate without a cane. GBS is a rare and potentially critical cause of diminished reflexes and weakness in the post-operative elective orthopedic patient. We propose that morbid obesity may have contributed to the patient's susceptibility of developing GBS following surgery.Conclusion: Neurologic symptoms of this autoimmune condition may also mimic the clinical picture of an elective spine patient, thus confounding diagnosis. If imaging cannot explain exam findings or new neurologic symptoms post-operatively, rare disease processes should be considered in the differential diagnosis. [ABSTRACT FROM AUTHOR]

Guillain-Barré syndrome is a complicated degenerative neurological disorder which can be either acute or chronic in nature. Guillain-Barré syndrome is an acquired condition and is characterized by progressive, symmetrical, proximal and distal tingling and weakness. Muscle stretch reflexes are decreased to absent and loss of sensation is common. A 4-year female child with no significant past medical history who presented with progressive weakness involving both upper and lower limbs over 48 to 72 h and complaints of tachypnea and hypotonia involving all group of muscles was admitted in Sri Venkateswara Ramnarayan Ruia Government General Hospital, Tirupati. In the present report, the main clinical aspects and features of Guillain-Barré syndrome along with the multidisciplinary approach to the acute phase combining supportive and high dose of immunoglobulin therapy were practiced. Patient should have follow-up within 2 weeks after the acute syndrome to evaluate for relapse, at which point repeat intravenous immunoglobulin. Thereafter, follow-up is necessary for every 4-6 weeks for 6 months, then 6 months for 1 year and then yearly. [ABSTRACT FROM AUTHOR]

Introduction: Guillain-Barré syndrome (GBS) is one of the most prevalently acquired polyneuropathies. In the past, once regarded as separate disease, now it is described as a group of few acute neuropathy subtypes of autoimmune origin. Although this disease may occur at any stage of life, equally affecting both women and men, the risk increases with age and is relatively low in children. Aim: Aim of this work is to present pathogenesis, clinical picture, as well as current diagnostic methods and treatment of GBS. Discussion: Although GBS is usually preceded by a mild virus infection, sometimes it is associated with a bacterial infection affecting either respiratory or digestive system. Initial symptom of classic form of GBS is usually a symmetrical paresis of proximal part of lower limbs, which gradually expands affecting upper limbs and trunk muscles. In case of diaphragmatic and intercostal nerves involvement, muscle weakness eventually leads to respiratory failure. As paralysis continues, deep reflexes tend to weaken and disappear. Diagnosis of GBS is carried out on the basis of clinical picture, cerebrospinal fluid analysis and electrophysiological study. The range and type of treatment mainly depend on severity of clinical signs and a phase of the disease. Conclusions: Diagnosis and treatment of GBS are crucial issues in clinical practice, because approximately 25% of patients can develop respiratory failure, significant disability followed by GBS present in 20%, and chronic fatigue in 60%-70% of patients. Despite symptomatic treatment and immunotherapy, mortality associated with GBS still ranges from 4% to 15%. [ABSTRACT FROM AUTHOR]

Guillain-Barre' syndrome (GBS) is a rapidly progressive, symmetrical and ascending acute demyelinating inflammatory polyneuropathy which is characterized by progressive weakness and areflexia. Cranial neuropathy and autonomic symptoms may accompany the clinical picture. In this paper, a case with severe pain in the bilateral lower extremities and left lower limb proximal muscle weakness which is significantly more marked than the right side and urinary incontinence was presented. Electromyography (EMC) findings were evaluated in favour of acute motor sensory axonal neuropathy (AMSAN) and the diagnosis was supported by cerebrospinal fluid analysis and magnetic resonance imaging. Two weeks after the intravenous immunoglobulin (IVIG) treatment clinical improvement was observed and the patient was included in physical therapy and rehabilitation program. GBS cases who present with asymmetric weakness have been rarely reported in the literature. [ABSTRACT FROM AUTHOR]

Miller Fisher syndrome (MFS) is an uncommon variant of Guillain-Barré syndrome (GBS). It is characterized by external ophthalmoplegia, ataxia, and areflexia. The incidence of MFS as a proportion of GBS was reported to be 1 to 5 % in western countries and considerably higher in Eastern Asia i.e. 19% in Taiwan and 25% in Japan. Here we report the clinical features of a patient who initially presented with ataxia then subsequently developed limb weakness, areflexia and ophthalmoplegia. CSF study and NCV study supported our clinical diagnosis. Patient was managed conservatively. No intravenous immunoglobulin was given but the patient gradually improved in symptoms including power, ataxia, ophthalmoparesis. After one month the patient was discharged from hospital with complete recovery. DOI: http://dx.doi.org/10.3329/bsmmuj.v5i1.11028 BSMMU J 2012; 5(1):69-71

Abstract: There are few reports of the multiple cranial neuropathy variant of Guillain-Barré Syndrome (GBS). Patients usually present with facial diplegia, lower cranial nerve involvement and hypo or areflexia. It is crucial to identify promptly this unusual cranial variant but the clinical characteristics remain poorly defined. This GBS variant usually has a rapid progressive course with respiratory muscle paralysis. Most of the patients recover well, although the process is slow. We report a 54 year old man presenting with facial diplegia, progressive ophthalmoplegia, lower cranial nerve involvement, sensory ataxia and generalized areflexia. This GBS variant is very unusual and seldom described in the literature; it is oftenly misdiagnosed. The clinical features and nerve conduction studies (absent F-waves, motor conduction block) provide evidence to support a diagnosis of an acute demyelinating polyneuropathy consistent with a regional cranial variant of GBS. [Copyright &y& Elsevier]

A 23-year-old woman presented with left-sided hemifacial flushing and hyperhidrosis with right-sided anhidrosis. Examination showed a dilated right pupil and a slightly constricted left pupil with bilateral sluggish vermiform movements and light-near dissociation. A neurological examination showed absent deep tendon reflexes. Magnetic resonance imaging of the brain, neck, and spine was normal. These features are consistent with Ross syndrome. Ross syndrome is characterized by Holmes-Adie syndrome (tonic pupil, areflexia of deep tendon reflexes) and segmental anhidrosis and lies within the spectrum of peripheral, partial autonomic dysfunction syndromes together with harlequin and Horner syndromes. In addition to the classic triad of Ross syndrome, the patient had diffuse, systemic autonomic dysfunction with a positive antinuclear antibody test and a positive ribonucleoprotein antibody titre. [ABSTRACT FROM AUTHOR]

This investigation correlated incidence and degree of autonomic dysfunction with the degree of motor impairment in children hospitalized with Guillain-Barré syndrome. Motor weakness varies, as does the effect on autonomic function including heart rate, vasomotor stability, sweating, continence, and blood pressure. After Institutional Review Board approval, hospitalized patients with Guillain-Barré syndrome <19 years were included for retrospective chart review. There were 26 patients (12 boys), with a mean age of 11.3 years (range, 6-17 years). The average hospital stay was 10.6 days. Twenty-four (92%) recovered by 2 to 6 months without functional disability. Bradycardia and sweating disturbances were not observed. Hypertension occurred in 18 of 26 (69%) and tachycardia in 20 of 26 (77%) patients. The proportion of children with hypertension and/or tachycardia increased, as did the motor disability grade (P < .043 and P < .018, respectively). Hypertension occurred 9 to 15 days from symptom onset and within 24 to 48 hours of maximum motor disability in 89%. Multiple autonomic disturbances compound the course of childhood Guillain-Barré syndrome. [ABSTRACT FROM PUBLISHER]

By sensing three-dimensional (3D) head rotation and electrically stimulating the three ampullary branches of a vestibular nerve to encode head angular velocity, a multichannel vestibular prosthesis (MVP) can restore vestibular sensation to individuals disabled by loss of vestibular hair cell function. However, current spread to afferent fibers innervating non-targeted canals and otolith end organs can distort the vestibular nerve activation pattern, causing misalignment between the perceived and actual axis of head rotation. We hypothesized that over time, central neural mechanisms can adapt to correct this misalignment. To test this, we rendered five chinchillas vestibular deficient via bilateral gentamicin treatment and unilaterally implanted them with a head-mounted MVP. Comparison of 3D angular vestibulo-ocular reflex (aVOR) responses during 2 Hz, 50°/s peak horizontal sinusoidal head rotations in darkness on the first, third, and seventh days of continual MVP use revealed that eye responses about the intended axis remained stable (at about 70% of the normal gain) while misalignment improved significantly by the end of 1 week of prosthetic stimulation. A comparable time course of improvement was also observed for head rotations about the other two semicircular canal axes and at every stimulus frequency examined (0.2-5 Hz). In addition, the extent of disconjugacy between the two eyes progressively improved during the same time window. These results indicate that the central nervous system rapidly adapts to multichannel prosthetic vestibular stimulation to markedly improve 3D aVOR alignment within the first week after activation. Similar adaptive improvements are likely to occur in other species, including humans. [ABSTRACT FROM AUTHOR]

Abstract: Gerstmann–Sträussler–Scheinker disease Pro102Leu (GSS102) is a rare autosomal dominant inherited prion disease due to a substitution of proline for leucine at codon 102 in the Prion Protein gene, and characterized by early walking difficulties and much later occurring dementia. We report clinical, electrophysiological and neuroradiological features of seven novel Italian cases of GSS102. The findings in our series support the thesis that early signs of GSS102 (including areflexia, ataxia, lower limb weakness, and painful dysesthesias) are likely due to a caudal myelopathic process, and suggest that GSS102 should be included among the causes of ataxia with areflexia. Moreover, our observations show that in patients with GSS102, as opposed to Friedreich''s ataxia and other forms of ataxia with areflexia, nerve conduction studies and somato-sensory evoked potentials are normal, despite the presence of lower limb areflexia. Hence, in subjects with walking difficulties, the presence of lower limb areflexia without central and peripheral conduction abnormalities is highly suggestive or possibly pathognomonic of GSS102, and can easily guide the clinicians to make the diagnosis of this rare neurodegenerative disease. [Copyright &y& Elsevier]

Guillain-Barré Syndrome (GBS) is currently the most frequent cause of acute flaccid paralysis on a global scale, being an autoimmune disorder wherein demyelination of the peripheral nerves occurs. Its main clinical features are a symmetrical ascending muscle weakness with reduced osteotendinous reflexes and variable sensory involvement. GBS most commonly occurs after an infection, especially viral (including COVID-19), but may also transpire after immunization with certain vaccines or in the development of specific malignancies. Immunoglobulins, plasmapheresis, and glucocorticoids represent the principal treatment modalities, however patients with severe disease progression may require supportive therapy in an intensive care unit. Due to its symptomology, which overlaps with numerous neurological and infectious illnesses, the diagnosis of GBS may often be misattributed to pathologies that are essentially different from this syndrome. Moreover, many of these require specific treatment methods distinct to those recommended for GBS, in lack of which the prognosis of the patient is drastically affected. Such diseases include exposure to toxins either environmental or foodborne, central nervous system infections, metabolic or serum ion alterations, demyelinating pathologies, or even conditions amenable to neurosurgical intervention. This extensive narrative review aims to systematically and comprehensively tackle the most notable and challenging differential diagnoses of GBS, emphasizing on the clinical discrepancies between the diseases, the appropriate paraclinical investigations, and suitable management indications. [ABSTRACT FROM AUTHOR]

A family with early-onset vestibulopathy is presented. The 34-year-old father had experienced brief attacks of vertigo and currently suffers from unsteadiness and oscillopsia during head movements. His two young sons also experience brief attacks of spontaneous vertigo. In vestibular testing all three subjects showed reduced caloric responses. However, only the father showed reduced otolith function (as reflected by the vestibular-evoked myogenic potentials). Further, all three subjects had walked before the age of 1 year and none of them had had any auditory symptoms. It is suggested that they have familial early-onset progressive vestbulopathy affecting the canals before the otoliths but sparing cochlear function. [ABSTRACT FROM AUTHOR]

Abstract Rats of the Fischer 344 (F344) and Wistar Kyoto (WKY) strains are known to present differences in stimuli responses involving the renin–angiotensin system and in cardiovascular responses to an acoustic startle stimulus. Here we compared the vascular reactivity to angiotensin II (ANG II) of these normotensive, inbred rat strains. Blood pressure (BP) and heart rate (HR) were recorded in conscious rats, before and after a neurohumoral blockade obtained by successive administration of chlorisondamine, enalapril, a V1 -vasopressinergic receptor antagonist (Manning compound) and atropine methyl nitrate. BP was restored by a constant infusion of noradrenaline. Boluses of ANG II ranging from 0.001 to 1280 ng/kg were injected randomly. Average dose–response curves were established. After neurohumoral blockade, the minimum mean BP (MBP) produced by hydralazine (3 mg/kg, i.v.) and the maximum MBP produced by noradrenaline (60 μg/mL and 800 μL/min, i.v.) were used to reflect arterial wall structure. The maximal systolic blood pressure (SBP) and pulse pressure (PP) responses to ANG II were higher in F344 compared with WKY (+86 ± 3 mmHg vs. +71 ± 3 mmHg, P < 0.01 for SBP, +31 ± 2 mmHg vs. +18 ± 1 mmHg, P < 0.001 for PP). After the ANG II type 1 (AT1 ) receptor blocker valsartan, ANG II had no significant effect on BP. F344 and WKY exhibited the same maximum MBP in response to noradrenaline. However, MBP level following hydralazine was higher in F344 (F344: 48 ± 2 mmHg vs. WKY: 37 ± 3 mmHg, P < 0.01). The amplification in F344 of the vasoconstrictive response to ANG II mediated by AT1 receptors is compatible with a high number of AT1 receptors in this strain. In F344, the exaggerated systolic and PP responses to ANG II and the higher MBP level after hydralazine most likely reflect a structural modification of the arterial wall such as hypertrophic remodelling in F344. [ABSTRACT FROM AUTHOR]