Encephalopathy With Alternating Hemispheric MRI Abnormalities

2021 ◽  
pp. 181-183
Author(s):  
Andrew McKeon
Keyword(s):  
Genetic Testing ◽  
Oral Prednisone ◽  
Autoimmune Encephalitis ◽  
High Dose ◽  
Temporal Region ◽  
Sharp Waves ◽  
Signal Abnormality ◽  
History Of ◽  
Fluctuating Course ◽  
Short Time

A 21-year-old woman with a long-standing history of migraine sought care at her local provider for a 1-week history of confusion and mixing up her words. She then had a witnessed seizure, with dyscognitive features and secondary generalization. On hospitalization, electroencephalography demonstrated left temporal theta slowing and sharp waves. Magnetic resonance imaging showed patchy T2-signal abnormality, nonenhancing, in the left temporal region (only a report was available). Thyroid peroxidase antibodies were increased at 271 IU/mL. A diagnosis of an autoimmune encephalopathy was made, and the patient was treated with phenytoin, levetiracetam, and high-dose corticosteroids, followed by a slow oral prednisone taper. The patient improved cognitively but had considerable emotional lability and an increase in headache frequency and severity and, thus, sought a second opinion. Blood was drawn for genetic testing. The patient died in her sleep a short time later, most likely in the context of sudden unexplained death in epilepsy. Her genetic testing results became available 1 month later, which showed findings consistent with MELAS syndrome: heteroplasmic sequence variation m.3243A>G (tRNA Leu) and homoplasmic rare variant m.2294A>G (16S rRNA). Encephalopathy or encephalitis of subacute onset with fluctuating course is not unique to autoimmune encephalitis. Common acquired metabolic disorders must be considered and excluded in all cases, such as deficiencies of vitamin B12 and folate, hypothyroidism, sepsis, and central nervous system–active medications.

scholarly journals Posterior Reversible Encephalopathy Syndrome due to High Dose Corticosteroids for an MS Relapse

2015 ◽  
Vol 2015 ◽  
pp. 1-4 ◽  
Author(s):  
Sarah A. Morrow ◽  
Robina Rana ◽  
Donald Lee ◽  
Terri Paul ◽  
Jeffrey L. Mahon
Keyword(s):  
Blood Pressure ◽  
Posterior Reversible Encephalopathy Syndrome ◽  
Rare Complication ◽  
Oral Prednisone ◽  
Medical Attention ◽  
High Dose ◽  
Posterior Reversible Encephalopathy ◽  
History Of ◽  
Mri Changes ◽  
Reversible Encephalopathy

Increased blood pressure is a known adverse effect associated with corticosteroids but little is published regarding the risk with the high doses used in multiple sclerosis (MS). A 53-year-old female with known relapsing remitting MS presented with a new brainstem relapse. Standard of care treatment for an acute MS relapse, 1250 mg of oral prednisone for 5 days, was initiated. She developed an occipital headache and dizziness and felt generally unwell. These symptoms persisted after treatment was complete. On presentation to medical attention, her blood pressure was 199/110 mmHg, although she had no history of hypertension. MRI changes were consistent with posterior reversible encephalopathy syndrome (PRES), demonstrating abnormal T2 signal in both thalami, the posterior occipital and posterior parietal white matter with mild sulcal effacement. As her pressure normalized with medication, her symptoms resolved and the MRI changes improved. No secondary cause of hypertension was found. This is the first reported case of PRES secondary to high dose corticosteroid use for an MS relapse without a history of hypertension and with no other secondary cause of hypertension identified. This rare complication should be considered in MS patients presenting with a headache or other neurological symptoms during treatment for a relapse.

scholarly journals Short-Lasting Unilateral Neuralgiform Headache Attacks with Conjunctival Injection and Tearing (SUNCT) Status Like Condition: A Rare Case Report and Review of the Literature.

2020 ◽  
Vol 14 (1) ◽  
pp. 74-78
Author(s):  
Jayanti K Gurumukhani ◽  
Dhruvkumar M. Patel ◽  
Mukundkumar V. Patel ◽  
Maitri M. Patel ◽  
Anand V Patel ◽  
...  
Keyword(s):  
Case Report ◽  
High Dose ◽  
Temporal Region ◽  
Conjunctival Injection ◽  
High Dose Methylprednisolone ◽  
Rare Case Report ◽  
History Of ◽  
Laboratory Investigations ◽  
Trigeminal Autonomic Cephalgia ◽  
Potassium Replacement

Background: SUNCT (short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing) is rare trigeminal autonomic cephalgia characterized by recurrent, brief, excruciating unilateral, intermittent headache paroxysms over orbital, frontal or temporal region occurring multiple times per day and it can rarely present as “SUNCTstatus like condition” (SSLC). Case Report: A 28-year old male with a history of SUNCT headache for 6 months presented with left forehead stabs lasting for 30 seconds with a frequency of 40-45 episodes per hour for three days followed by infective gastroenteritis. His neurological examination was normal, except left-sided ptosis, tearing, and conjunctival injection. His MRI brain with contrast, MR angiography, and laboratory investigations were unremarkable except mild hypokalemia. He was treated with intravenous fluids, potassium replacement, and high dose methylprednisolone along with an escalated dose of carbamazepine. Review and Conclusion: We have reviewed the previously reported seven cases and our case of SSLC. Female: Male ratio was 3:1and the mean age was 40.87 years. Three patients responded to high dose steroids and three to lignocaine along with rapid escalation or change of anticonvulsant drugs. One case responded to the high dose of lamotrigine, and in a pregnant lady, the pain subsided only after the termination of the pregnancy. One case was secondary to multiple sclerosis, while the rest of seven were primary episodic SSLC. The condition is highly disabling, and the treatment with steroids or lignocaine, along with the rapid escalation of preventive drugs, can provide long-lasting relief

scholarly journals 077 An unusual presentation of antibody negative autoimmune encephalitis: a case report

2019 ◽  
Vol 90 (e7) ◽  
pp. A24.2-A25
Author(s):  
Viral Upadhyay ◽  
Ashish Malkan ◽  
Hyunmin Park
Keyword(s):  
Mononuclear Cells ◽  
Parietal Lobe ◽  
Post Partum ◽  
Serum Antibody ◽  
Autoimmune Encephalitis ◽  
Current Smoker ◽  
Neurological Deficits ◽  
High Dose ◽  
Significant Past Medical History ◽  
History Of

IntroductionImmune-mediated encephalitis can occur in the absence of measurable pathogenic antibodies in CSF or serum.Methods and resultsWe present the case of a 29-year-old Sudanese woman presented with four days history of meningism. She is three months post-partum with her fifth child and does not have significant past medical history. She is a current smoker with history of methamphetamine and heroin use until 5 years ago. There were no focal neurological deficits on examination. CT brain was normal and her CSF had 420×106/L leucocytes (Polymorphs 18, Mononuclears 402). Three days later, she deteriorated clinically with GCS 11 and developed left sided hemiplegia requiring intubation and ventilation in intensive care.The CSF culture along with autoimmune encephalitis panel, anti-neuronal antibodies, HSV, VZV, Enterovirus, cryptococcal antigen, TB quantiferon, HIV, Malaria were negative. Her immunology tests were unremarkable including rheumatoid factor, complements, anti-nuclear antibodies, dsDNA, PR3, MPO, RNP, Smith, Ro, La, Scleroderma 70 and Jo-1 antibodies. The MRI Brain showed persistent changes in right hemispheric cortical and subcortical gyriform FLAIR hyperintensities which were also present in DWI images. The EEG showed right temporo-occipital region 7–8 Hz rhythmic discharges with generalised diffuse slowing. She had right parietal lobe brain biopsy which shows perivascular and intramural inflammation by mononuclear cells almost comprised of CD3 T-cells consistent with encephalitis associated with secondary lymphocytic vasculitis. She was treated with intravenous pulsed methylprednisolone and IVIg followed by plasma exchange. Then given high dose oral corticosteroids with slow tapering and intravenous Cyclophosphamide four weekly. Significant neurological improvement noted over next 8 weeks with patient being alert and participating in ongoing multidisciplinary rehabilitation for hemiplegia.ConclusionA case of cerebral biopsy confirmed, CSF and serum antibody-negative encephalitis is presented.

scholarly journals Short-Lasting Unilateral Neuralgiform Headache Attacks with Conjunctival Injection and Tearing (SUNCT) Status Like Condition: A Rare Case Report and Review of the Literature.

2020 ◽  
Vol 14 (1) ◽  
pp. 75-79
Author(s):  
Jayanti K Gurumukhani ◽  
Dhruvkumar M. Patel ◽  
Mukundkumar V. Patel ◽  
Maitri M. Patel ◽  
Anand V Patel ◽  
...  
Keyword(s):  
Case Report ◽  
High Dose ◽  
Temporal Region ◽  
Conjunctival Injection ◽  
High Dose Methylprednisolone ◽  
Rare Case Report ◽  
History Of ◽  
Laboratory Investigations ◽  
Trigeminal Autonomic Cephalgia ◽  
Potassium Replacement

Background: SUNCT (short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing) is rare trigeminal autonomic cephalgia characterized by recurrent, brief, excruciating unilateral, intermittent headache paroxysms over orbital, frontal or temporal region occurring multiple times per day and it can rarely present as “SUNCTstatus like condition” (SSLC). Case Report: A 28-year old male with a history of SUNCT headache for 6 months presented with left forehead stabs lasting for 30 seconds with a frequency of 40-45 episodes per hour for three days followed by infective gastroenteritis. His neurological examination was normal, except left-sided ptosis, tearing, and conjunctival injection. His MRI brain with contrast, MR angiography, and laboratory investigations were unremarkable except mild hypokalemia. He was treated with intravenous fluids, potassium replacement, and high dose methylprednisolone along with an escalated dose of carbamazepine. Review and Conclusion: We have reviewed the previously reported seven cases and our case of SSLC. Female: Male ratio was 3:1and the mean age was 40.87 years. Three patients responded to high dose steroids and three to lignocaine along with rapid escalation or change of anticonvulsant drugs. One case responded to the high dose of lamotrigine, and in a pregnant lady, the pain subsided only after the termination of the pregnancy. One case was secondary to multiple sclerosis, while the rest of seven were primary episodic SSLC. The condition is highly disabling, and the treatment with steroids or lignocaine, along with the rapid escalation of preventive drugs, can provide long-lasting relief

ITI with high-dose FIX and combined immunosuppressive therapy in a patient with severe haemophilia B and inhibitor

2009 ◽  
Vol 29 (02) ◽  
pp. 155-157 ◽  
Author(s):  
H. Hauch ◽  
J. Rischewski ◽  
U. Kordes ◽  
J. Schneppenheim ◽  
R. Schneppenheim ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Immunosuppressive Agents ◽  
Tolerance Induction ◽  
Intravenous Immunoglobulins ◽  
Factor Ix ◽  
High Dose ◽  
Allergic Reactions ◽  
Success Rates ◽  
Serious Infections ◽  
History Of

SummaryInhibitor development is a rare but serious event in hemophilia B patients. Management is hampered by the frequent occurrence of allergic reactions to factor IX, low success rates of current inhibitor elimination protocols and the risk of development of nephrotic syndrome. Single cases of immune tolerance induction (ITI) including immunosuppressive agents like mycophenolat mofetil (MMF) or rituximab have been reported. We present a case of successful inhibitor elimination with a combined immune-modulating therapy and high-dose factor IX (FIX). This boy had developed a FIX inhibitor at the age of 5 years and had a history of allergic reactions to FIX and to FEIBA→. Under on-demand treatment with recombinant activated FVII the inhibitor became undetectable but the boy suffered from multiple joint and muscle bleeds. At the age of 11.5 years ITI was attempted with a combination of rituximab, MMF, dexamethasone, intravenous immunoglobulins and high-dose FIX. The inhibitor did not reappear and FIX half-life normalized. No allergic reaction, no signs of nephrotic syndrome and no serious infections were observed.

scholarly journals National Estimates of Genetic Testing in Women With a History of Breast or Ovarian Cancer

2017 ◽  
Vol 35 (34) ◽  
pp. 3800-3806 ◽  
Author(s):  
Christopher P. Childers ◽  
Kimberly K. Childers ◽  
Melinda Maggard-Gibbons ◽  
James Macinko
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Unmet Need ◽  
Cancer Control ◽  
The United States ◽  
Eligibility Criteria ◽  
Cross Sectional ◽  
Age Of Diagnosis ◽  
History Of ◽  
Interview Survey

Purpose In the United States, 3.8 million women have a history of breast (BC) or ovarian cancer (OC). Up to 15% of cases are attributable to heritable mutations, which, if identified, provide critical knowledge for treatment and preventive care. It is unknown how many patients who are at high risk for these mutations have not been tested and how rates vary by risk criteria. Methods We used pooled cross-sectional data from three Cancer Control Modules (2005, 2010, 2015) of the National Health Interview Survey, a national in-person household interview survey. Eligible patients were adult females with a history of BC and/or OC meeting select 2017 National Comprehensive Cancer Network eligibility criteria on the basis of age of diagnosis and family history. Outcomes included the proportion of individuals reporting a history of discussing genetic testing with a health professional, being advised to undergo genetic testing, or undergoing genetic testing for BC or OC. Results Of 47,218 women, 2.7% had a BC history and 0.4% had an OC history. For BC, 35.6% met one or more select eligibility criteria; of those, 29.0% discussed, 20.2% were advised to undergo, and 15.3% underwent genetic testing. Testing rates for individual eligibility criteria ranged from 6.2% (relative with OC) to 18.2% (diagnosis ≤ 45 years of age). For OC, 15.1% discussed, 13.1% were advised to undergo, and 10.5% underwent testing. Using only four BC eligibility criteria and all patients with OC, an estimated 1.2 to 1.3 million individuals failed to receive testing. Conclusion Fewer than one in five individuals with a history of BC or OC meeting select National Cancer Comprehensive Network criteria have undergone genetic testing. Most have never discussed testing with a health care provider. Large national efforts are warranted to address this unmet need.

Pseudo-Parkinson Disease Secondary to Ritonavir–Buspirone Interaction

2003 ◽  
Vol 37 (2) ◽  
pp. 202-205 ◽  
Author(s):  
Patrick G Clay ◽  
Molly M Adams
Keyword(s):  
Drug Interaction ◽  
Inhibitory Effect ◽  
Hiv Positive ◽  
High Dose ◽  
Resting Tremor ◽  
Case Summary ◽  
History Of ◽  
Drug Drug Interaction ◽  
To Receive

OBJECTIVE: To report a case of Parkinson-like symptoms appearing in a patient after introduction of ritonavir to buspirone therapy. CASE SUMMARY: A 54-year-old HIV-positive white man presented to the clinic with a 2-week history of ataxia, shuffling gait, cogwheel rigidity, resting tremor, and sad affect with masked features. This patient had been receiving high-dose buspirone (40 mg every morning and 30 mg every evening) for 2 years prior to the introduction of ritonavir/indinavir combination therapy (400 mg/400 mg twice daily) 6 weeks prior to initiation of the above symptoms. Buspirone was decreased to 15 mg 3 times daily, ritonavir/indinavir was discontinued, and amprenavir 1200 mg twice daily was added. The patient's symptoms began to subside after 1 week, with complete resolution after about 2 weeks. The patient continued to receive buspirone for an additional 12 months without recurrence of symptoms. DISCUSSION: This is the first reported interaction of buspirone and antiretrovirals. Buspirone, extensively metabolized by CYP3A4, was likely at supratherapeutic levels due to the inhibitory effect of ritonavir and, secondarily, indinavir. The Parkinson-like symptoms developed rapidly and severely, impacted this patient's quality of life, and necessitated significant clinic expenditures to identify this drug–drug interaction. CONCLUSIONS: This case demonstrates a severe drug–drug interaction between buspirone and ritonavir and further demonstrates the need for awareness of the metabolic profile for all agents an HIV-infected patient is receiving.

scholarly journals R1352Q CACNA1A Variant in a Patient with Sporadic Hemiplegic Migraine, Ataxia, Seizures and Cerebral Oedema: A Case Report

2021 ◽  
pp. 123-130
Author(s):  
Anker Stubberud ◽  
Emer O’Connor ◽  
Erling Tronvik ◽  
Henry Houlden ◽  
Manjit Matharu
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Genetic Testing ◽  
Head Trauma ◽  
Cerebral Oedema ◽  
De Novo ◽  
Minor Head Trauma ◽  
Hemiplegic Migraine ◽  
Wide Range ◽  
History Of

Mutations in the <i>CACNA1A</i> gene show a wide range of neurological phenotypes including hemiplegic migraine, ataxia, mental retardation and epilepsy. In some cases, hemiplegic migraine attacks can be triggered by minor head trauma and culminate in encephalopathy and cerebral oedema. A 37-year-old male without a family history of complex migraine experienced hemiplegic migraine attacks from childhood. The attacks were usually triggered by minor head trauma, and on several occasions complicated with encephalopathy and cerebral oedema. Genetic testing of the proband and unaffected parents revealed a de novo heterozygous nucleotide missense mutation in exon 25 of the <i>CACNA1A</i> gene (c.4055G&#x3e;A, p.R1352Q). The R1352Q <i>CACNA1A</i> variant shares the phenotype with other described <i>CACNA1A</i> mutations and highlights the interesting association of trauma as a precipitant for hemiplegic migraine. Subjects with early-onset sporadic hemiplegic migraine triggered by minor head injury or associated with seizures, ataxia or episodes of encephalopathy should be screened for mutations. These patients should also be advised to avoid activities that may result in head trauma, and anticonvulsants should be considered as prophylactic migraine therapy.

scholarly journals On the Short Time Scale Evolutionary History of the Contact Binary VW Cephei

1998 ◽  
Vol 11 (1) ◽  
pp. 396-396
Author(s):  
I. Pustylnik
Keyword(s):  
Evolutionary History ◽  
Light Curves ◽  
Published Data ◽  
Short Time Scale ◽  
Flare Activity ◽  
Considerable Portion ◽  
History Of ◽  
Contact Binary ◽  
Elongation Phase ◽  
Short Time

We study the short-time evolutionary history of the well-known contact binary VW Cep. Our analysis is based partly on the numerous UBV lightcurves obtained at Tartu Observatory, IUE spectra, and samples from the published data. Special attention is given to the effects of asymmetry of the light curves. A higher degree of asymmetry outside the eclipses along with the significant displacements of the brightness maxima in respect to the elongation phase is interpreted as evidence that a considerable portion of the flaring source is concentrated close to the neck connecting the components. We discuss the nature of asymmetry in terms of possible mass exchange and the flare activity and compare the results of our model computations with the record of orbital period variations over the last 60 years.

scholarly journals Novel SCN5A p.Val1667Asp Missense Variant Segregation and Characterization in a Family with Severe Brugada Syndrome and Multiple Sudden Deaths

2021 ◽  
Vol 22 (9) ◽  
pp. 4700
Author(s):  
Michelle M. Monasky ◽  
Emanuele Micaglio ◽  
Giuseppe Ciconte ◽  
Ilaria Rivolta ◽  
Valeria Borrelli ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Family History ◽  
Risk Stratification ◽  
Brugada Syndrome ◽  
Electrophysiological Study ◽  
Functional Characterization ◽  
The Family ◽  
Novel Variant ◽  
History Of ◽  
Scn5a Gene

Genetic testing in Brugada syndrome (BrS) is still not considered to be useful for clinical management of patients in the majority of cases, due to the current lack of understanding about the effect of specific variants. Additionally, family history of sudden death is generally not considered useful for arrhythmic risk stratification. We sought to demonstrate the usefulness of genetic testing and family history in diagnosis and risk stratification. The family history was collected for a proband who presented with a personal history of aborted cardiac arrest and in whom a novel variant in the SCN5A gene was found. Living family members underwent ajmaline testing, electrophysiological study, and genetic testing to determine genotype-phenotype segregation, if any. Patch-clamp experiments on transfected human embryonic kidney 293 cells enabled the functional characterization of the SCN5A novel variant in vitro. In this study, we provide crucial human data on the novel heterozygous variant NM_198056.2:c.5000T>A (p.Val1667Asp) in the SCN5A gene, and demonstrate its segregation with a severe form of BrS and multiple sudden deaths. Functional data revealed a loss of function of the protein affected by the variant. These results provide the first disease association with this variant and demonstrate the usefulness of genetic testing for diagnosis and risk stratification in certain patients. This study also demonstrates the usefulness of collecting the family history, which can assist in understanding the severity of the disease in certain situations and confirm the importance of the functional studies to distinguish between pathogenic mutations and harmless genetic variants.

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