DOCSLIB.ORG

Tonic Status Epilepticus in Patients with Idiopathic Generalized Epilepsy

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Tonic Status Epilepticus in Patients with Idiopathic Generalized Epilepsy Original article Epileptic Disord 2005; 7 (4): 327-31 Tonic status epilepticus in patients with idiopathic generalized epilepsy Eliane Kobayashi1, Pierre Thomas2, Frederick Andermann1 1 Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada 2 Service de Neurologie, Hôpital Pasteur, Nice, France Received April 15, 2005; Accepted October 4, 2005 Presented in the 2004 Annual Meeting of the American Epilepsy Society ABSTRACT – Rationale. Tonic status epilepticus (TSE) in patients with idiopathic generalized epilepsy (IGE) is not well recognized. The objective of this study is to report episodes of TSE in patients with IGE. Methods. We retrospectively reviewed the clinical and EEG evaluation of three IGE patients who presented TSE. Results. The three patients had mainly clinical features of IGE, but had developed, in addition, focal discharges, diffuse EEG abnormalities and some focal or diffuse neuropsychological dysfunction. The tonic attacks eventually responded to treatment, but were not completely controlled in any of the patients. Discussion. The continuum between IGE and secondary generalized epilepsy is demonstrated in these patients. Most of their clinical and EEG features are however, in keeping with an idiopathic generalized epileptic process with additional focal and diffuse components. Recognition of the significance of TSE in such patients has important therapeutic and prognostic implications. [Published with video sequences] Key words: idiopathic generalized epilepsy, tonic status epilepticus, tonic seizures, absences Descriptions of tonic status epilepti- activity (Mattson 2003), early onset, cus (TSE) usually refer to patients who an obvious or implied genetic origin, are severely impaired and who have a good response to antiepileptic drugs catastrophic epilepsy such as the (AEDs) and normal intelligence. On Lennox-Gastaut syndrome or other the other hand, patients with SGE, by encephalopathies, associated with definition have abnormal EEG bac- widespread cerebral dysfunction. Ag- kground activity, cognitive impair- gravations of seizure control leading ment, poor response to AEDs, and evi- Correspondence: to SE are well recognized as a part of dence of diffuse brain pathology. Frederick Andermann, MD, FRCPC, the natural history of these patients. Episodes of status epilepticus (SE) Department of Neurology The borderline between secondary consisting of minor attacks may rarely and Neurosurgery, generalized (SGE) and idiopathic ge- occur in patients with a well- Montreal Neurological Institute and Hospital, neralized epilepsy (IGE) is often blur- established diagnosis of IGE, but are McGill University, red. The seizure types usually associa- usually associated with inadequate 3801 University Street, Montreal, Quebec, ted with IGE are absence, myoclonus treatment, in the form of myoclonic or Canada H3A 2B4 and generalized tonic-clonic. The dia- absence SE (D’Agostino et al. 1999, Tel.: (+00 1) 514 398 1976 Fax: (+00 1) 514 3981276 gnosis of IGE is based mainly on fea- Wheless 2003). Because the occur- <[email protected]> tures such as normal EEG background rence of tonic seizures and tonic status Epileptic Disord Vol. 7, No. 4, December 2005 327 E. Kobayashi, et al. F3-FCz C3-FCz P3-FCz O1-FCz F7-FCz T3-FCz T5-FCz Fp2-FCz F4-FCz C4-FCz P4-FCz O2-FCz F8-FCz T4-FCz T6-FCz Fz-FCz Cz-FCz Pz-FCz Zy1-FCz Zy2-FCz EOGs-FCz EOGi-FCz ECGl-FCz 50µV ECGr-FCz 1sec Figure 1. Ictal EEG recording from patient 1 showing generalized polyspikes and irregular GSSW pattern, during a tonic seizure characterized by a brief tonic flexion of neck, trunk and arms. epilepticus (TSE) in patients with IGE is not widely reco- attacks amounting to status epilepticus. Her interictal wak- gnized, we describe three patients with IGE who presented ing EEGs and MRI were normal. episodes of TSE. At the age of 17, she had a prolonged hospitalization because of refractory TSE. On admission, her neurological examination had been normal, except for drowsiness, and Methods she had good valproate and ethosuximide levels. She was intubated and treated with thiopental for 36 hours. After We retrospectively studied the clinical and EEG character- discontinuing the Thiopental she remained in a coma, istics of two patients with recurrent SE with tonic seizures at with a burst suppression EEG pattern. Complications in- the Montreal Neurological Hospital and one from the Neu- cluded lung atelectasis, sepsis-related to Klebsiella infec- rological Department of the Nice University Hospitals. tion and a lower extremity, sensory motor neuropathy. She improved progressively after treatment with vigabatrin 3000 mg, 300 mg of phenytoin, and 2750 mg of val- Results (case descriptions) proate. She had residual cognitive and behavioral changes, but was seizure-free for one year. She then Patient 1 developed similar, recurrent, brief, tonic, nocturnal at- tacks, mainly in the perimenstrual period, activated by A 24 year old woman had typical childhood absences fatigue and excitement. Interictal EEGs showed frequent diagnosed at age five. Routine EEGs since that age showed frequent, brief bursts of irregular, 2.5-3Hz generalized paroxysms of irregular, bifrontal spike and polyspike and spike and slow waves (GSSW) maximum over anterior wave discharges during sleep. regions, and sometimes with left centro-temporal pre- At the age of 24, she again developed TSE, with attacks dominance. She had no identifiable risk factors or family every five minutes characterized by elevation and flexion history of epilepsy. She graduated from high school and of both arms, flexion of the neck and trunk, upward eye worked in her sister’s store. Nocturnal symmetrical tonic deviation, and unresponsiveness lasting up to four sec- seizures, lasting 10 to 20 seconds, appeared during ado- onds (figure 1A). During monitoring, attacks occurred lescence, mostly related to her menstrual cycle. These mainly during sleep, at an average of two per hour, and increased in frequency and after the age of 15 she was ictal EEGs showed generalized polyspike activity. She hospitalized on several occasions for clusters of such improved after treatment with propofol 25 micrograms/kg, 328 Epileptic Disord Vol. 7, No. 4, December 2005 Tonic status in idiopathic generalized epilepsy FP2-F8 F8-T4 T4-T6 T6-O2 FP2-F4 F4-C4 C4-P4 P4-O2 ECG FP1-F7 F7-T3 T3-T5 T5-O1 FP1-F3 F3-C3 C3-P3 P3-O1 EOG Fz-Cz Cz-Pz EMG1 EMG2 9101112131415161718192021222324252627 50µV 1sec Figure 2. Ictal EEG recording during a tonic seizure from patient 2, showing rhythmic, 3Hz GSSW, followed by generalized polyspikes and then by irregular GSSW. and was treated with valproate and levetiracetam two treated with lamotrigine 400 mg and topiramate 200 mg, grams per day, with no additional, identifiable, cognitive and became seizure-free. impairment or focal deficit. She remained seizure-free for a year and then again began developing similar, infre- Patient 3 quent, nocturnal, tonic attacks, but not amounting to SE. A 22 year old man with a history of seizures since the age of five. Attacks occurred during sleep, but characteristi- Patient 2 cally occurred in clusters during the first hour after awak- A 21 year old man developed generalized tonic clonic and ening in the morning. He had tonic stiffening and slight absence seizures at the age of eight years. Absences were flexion of the arms and neck associated with altered atypical since they were associated with marked bilateral consciousness. He had a third degree cousin with epi- myoclonic jerking of the lower part of the face. Conscious- lepsy. Seizures were recorded during video-EEG monitor- ness was partially preserved, but he was unable to re- ing. Episodes started with tonic flexion of the body and spond. He had no cognitive deficits. There were periods of head, with upward deviation of both arms; some were worsening of seizure control, mainly associated with car- followed by left hand automatisms and chewing move- bamazepine use, but he was finally treated successfully ments. EEG showed 2 Hz GSSW with some additional with lamotrigine and valproate, and later with 400 mg of interictal bitemporal spikes with left side predominance. lamotrigine as daily monotherapy. His EEG showed irregu- No focal onset was found in the ictal EEG. MRI was normal lar GSSW with some additional rhythmic discharges over and neuropsychological evaluation revealed frontocen- the left frontal region. He then developed attacks while trotemporal dysfunction. He was discharged receiving falling asleep, characteristically related to fatigue and phenytoin 500 mg/day, lamotrigine 500 mg/day and clo- occurring in series or clusters, and therefore was admitted bazam 50 mg/day. for video-EEG monitoring. Many seizures were recorded, consisting of brief tonic asymmetric posturing of both arms, more evident on the right side, upward eye devia- Discussion tion, and contraction of perioral muscles with some down- ward deviation of the labial commissures (figure 1B). Status with minor seizures, mainly absence or myoclonus These were associated with generalized polyspikes with is common in patients with IGE (D’Agostino et al. 1999, fragmentation and irregular GSSW. Typical perioral myo- Wheless 2003). However, there are no descriptions of TSE clonia with absence seizures were also recorded. He was in this group of patients. TSE is commonly associated with Epileptic Disord Vol. 7, No. 4, December 2005 329 E. Kobayashi, et al. Spectrum of the Generalized Epilepsies
Load more

Recommended publications
  • Status Epilepticus Clinical Pathway
    JOHNS HOPKINS ALL CHILDREN’S HOSPITAL Status Epilepticus Clinical Pathway 1 Johns Hopkins All Children's Hospital Status Epilepticus Clinical Pathway Table of Contents 1. Rationale 2. Background 3. Diagnosis 4. Labs 5. Radiologic Studies 6. General Management 7. Status Epilepticus Pathway 8. Pharmacologic Management 9. Therapeutic Drug Monitoring 10. Inpatient Status Admission Criteria a. Admission Pathway 11. Outcome Measures 12. References Last updated: July 7, 2019 Owners: Danielle Hirsch, MD, Emergency Medicine; Jennifer Avallone, DO, Neurology This pathway is intended as a guide for physicians, physician assistants, nurse practitioners and other healthcare providers. It should be adapted to the care of specific patient based on the patient’s individualized circumstances and the practitioner’s professional judgment. 2 Johns Hopkins All Children's Hospital Status Epilepticus Clinical Pathway Rationale This clinical pathway was developed by a consensus group of JHACH neurologists/epileptologists, emergency physicians, advanced practice providers, hospitalists, intensivists, nurses, and pharmacists to standardize the management of children treated for status epilepticus. The following clinical issues are addressed: ● When to evaluate for status epilepticus ● When to consider admission for further evaluation and treatment of status epilepticus ● When to consult Neurology, Hospitalists, or Critical Care Team for further management of status epilepticus ● When to obtain further neuroimaging for status epilepticus ● What ongoing therapy patients should receive for status epilepticus Background: Status epilepticus (SE) is the most common neurological emergency in children1 and has the potential to cause substantial morbidity and mortality. Incidence among children ranges from 17 to 23 per 100,000 annually.2 Prevalence is highest in pediatric patients from zero to four years of age.3 Ng3 acknowledges the most current definition of SE as a continuous seizure lasting more than five minutes or two or more distinct seizures without regaining awareness in between.
    [Show full text]
  • The Migraine-Epilepsy Syndrome
    medigraphic Artemisaen línea Arch Neurocien (Mex) Vol 11, No. 4: 282-287, 2006 The Migraine- Epilepsy Syndrome Arch Neurocien (Mex) Vol. 11, No. 4: 282-287, 2006 Artículo de revisión ©INNN, 2006 de caso The migraine-epilepsy syndrome Enrique Otero Siliceo†, Fernando Zermeño EL SINDROME MIGRAÑA-EPILEPSIA represent a neural exitation. Since that the glutamate has in important rol in both patologys depending of the part of the brain more affected the symptoms might RESUMEN vary from visual to abdominal phemomena. La migraña y la epilepsia tienen varios puntos en común Key words: migraine epilepsy, EEG abnormalities, sintomática clínica y genéticamente lo que ha sido glutamate, diagnosis. postulado por más de cien años. El fenómeno referido como migraña-epilepsia sugiere que exista una he first steps of a practical, approach by patofisiología común. El síndrome de migraña o physicians in recognizing and treating neuro- epilepsia tiene fenómenos comunes de dolor adominal T logic diseases are to recognithat there are jaqueca anormalidades del EE y respuesta a droga various overlaps between migraine and epilepsy. antiepilépticas. En ocasiones el paciente puede tener Epileptic seizures and classic migraine episodes may un ataque migrañoso o una convulsión o en otras occur in the same patient. Migraine and epilepsy share ambas. La comorbilidad puede explicarse por estados several genetic, clinical, evolutive and neurophysio- de hiperrexcitabilidad neural. Alteraciones electroen- logic features. A relationship between epilepsy and cefalográficas son comunes en estos estados. En migraine has been postulated for over a hundred years apariencia el glutamato tiene un papel importante tanto and the syndrome of Migraine-Epilepsy illustrates this en la migraña como en la epilepsia.
    [Show full text]
  • Migraine Triggered Seizures and Epilepsy Triggered Headache and Migraine Attacks: a Need for Re-Assessment
    View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by PubMed Central J Headache Pain (2011) 12:287–288 DOI 10.1007/s10194-011-0344-2 COMMENTARY Migraine triggered seizures and epilepsy triggered headache and migraine attacks: a need for re-assessment Paul T. G. Davies • C. P. Panayiotopoulos Received: 5 April 2011 / Accepted: 8 April 2011 / Published online: 24 April 2011 Ó The Author(s) 2011. This article is published with open access at Springerlink.com In this issue of the Journal, Belcastro and associates review Migralepsy terminology and classification issues for migralepsy, hem- icrania epileptica, post-ictal and ictal headache [1]. They According to the ICHD-II 1.5.5, ‘‘migraine-triggered sei- raise key points such as ictal headache and visual seizures zure (sometimes referred to as migralepsy)’’ denotes an are often misdiagnosed as migraine, ‘‘migralepsy’’ is unli- epileptic seizure that occurs ‘‘during or within one hour kely to exist and an ‘‘epilepsy-migraine sequence’’ is much after a migraine aura’’ [3]. However, the evidence of this more common and well documented than the dominant ‘‘migraine-seizure’’ sequence is weak and the proposed view of a ‘‘migraine-epilepsy sequence’’. Their relevant criterion of 1 h gap between the end of the ‘‘aura’’ and the proposals need appropriate attention by the committee of start of an epileptic seizure is entirely arbitrary the international classification of headache disorders Migralepsy is an old term derived from migra(ine) and (ICHD) as well as the physicians in their clinical practice (epi)lepsy, coined by Dr Douglas Davidson, but mainly because of the consequences that misdiagnosis may have on attributed to Lennox and Lennox, which we quote, ‘‘a patients.
    [Show full text]
  • This Issue Features) 1
    Dear Colleagues, I am pleased to release the second issue of the seventh volume of 'CLAE Connections', the official newsletter of the Canadian League Against Epilepsy. Inside you will find a treasure trove of information from colleagues from across the country. The next issue of 'CLAE Connections' is expected sometime in June 2020; until then, happy reading. Table of contents (This issue features) 1. Editor’s Introduction 2. Message from the President 3. Recent News and Awards 4. Current clinical trends from across the country 5. Noteworthy research studies 6. A word from the Canadian Epilepsy Alliance 7. Updates from YES 8. In Memoriam 9. Upcoming events Editor’s introduction Dear all, I am excited to release our new issue of CLAE Connections! We have been hard at work on our end producing this content, which hopefully builds on our first issue’s success. We have been musing on increasing the frequency of the newsletter to stay ahead of current events, conferences and are holding discussions currently on how best to approach this. A big highlight for me was the birth of my second daughter this past October! Another big highlight however was our CLAE annual scientific meeting which was rich and stimulating and gave us all the opportunity to reconnect with one another and strategize around projects and initiatives for the upcoming year. I think we have a vibrant and close knit community and being a part of the CLAE is a privilege I hold dear. As always, I hope that you find this issue stimulating and thought provoking, and please share your thoughts and comments with me- our group is always open to feedback.
    [Show full text]
  • Myoclonic Status Epilepticus in Juvenile Myoclonic Epilepsy
    Original article Epileptic Disord 2009; 11 (4): 309-14 Myoclonic status epilepticus in juvenile myoclonic epilepsy Julia Larch, Iris Unterberger, Gerhard Bauer, Johannes Reichsoellner, Giorgi Kuchukhidze, Eugen Trinka Department of Neurology, Medical University of Innsbruck, Austria Received April 9, 2009; Accepted November 18, 2009 ABSTRACT – Background. Myoclonic status epilepticus (MSE) is rarely found in juvenile myoclonic epilepsy (JME) and its clinical features are not well described. We aimed to analyze MSE incidence, precipitating factors and clini- cal course by studying patients with JME from a large outpatient epilepsy clinic. Methods. We retrospectively screened all patients with JME treated at the Department of Neurology, Medical University of Innsbruck, Austria between 1970 and 2007 for a history of MSE. We analyzed age, sex, age at seizure onset, seizure types, EEG, MRI/CT findings and response to antiepileptic drugs. Results. Seven patients (five women, two men; median age at time of MSE 31 years; range 17-73) with MSE out of a total of 247 patients with JME were identi- fied. The median follow-up time was seven years (range 0-35), the incidence was 3.2/1,000 patient years. Median duration of epilepsy before MSE was 26 years (range 10-58). We identified three subtypes: 1) MSE with myoclonic seizures only in two patients, 2) MSE with generalized tonic clonic seizures in three, and 3) generalized tonic clonic seizures with myoclonic absence status in two patients. All patients responded promptly to benzodiazepines. One patient had repeated episodes of MSE. Precipitating events were identified in all but one patient. Drug withdrawal was identified in four patients, one of whom had additional sleep deprivation and alcohol intake.
    [Show full text]
  • Frederick Andermann for CIRCULATION June 17, 2019
    Dr. Frederick Andermann, OC, OQ, MD, FRCPC September 26, 1930 – June 16, 2019. Dr. Frederick Andermann, one of Canada's most distinguished neurologists, passed away quietly on June 16, 2019 in Montreal at the age of 88. Loving husband and scientific collaborator of Dr. Eva Andermann (née Deutsch) for 54 years, devoted father and father-in-law of Lisa Andermann and Michael Prokaziuk, Anne Andermann and Carlos Fraenkel, Mark Andermann and Maria Lehtinen, and cherished Opapa of his grandchildren Hannah and James Prokaziuk, Lara and Ben Fraenkel, and Leila and Kaija Andermann. For over 60 years, Dr. Andermann showed a remarkable ability to identify rare neurological syndromes and assemble multidisciplinary teams of researchers to conduct further clinical investigations to better understand these unusual presentations and to provide patients and families with hope for treatment. The results of his inquiries in such areas as cortical dysplasias, progressive myoclonic epilepsies, epilepsy surgery, and genetically determined neurological disorders have been published in nine books and over 500 scientific papers. His monographs on alternating hemiplegia, Rasmussen’s syndrome, and migraine and epilepsy have contributed significantly to the understanding and treatment of these disorders. The Andermanns were also credited with having described a rare genetically-inherited autosomal recessive neurological condition associated with agenesis of the corpus callosum and peripheral neuropathy that is now known as Andermann Syndrome. Dr. Andermann was a
    [Show full text]
  • Myoclonic Atonic Epilepsy Another Generalized Epilepsy Syndrome That Is “Not So” Generalized
    EDITORIAL Myoclonic atonic epilepsy Another generalized epilepsy syndrome that is “not so” generalized John M. Zempel, MD, Myoclonic atonic/astatic epilepsy (MAE), first described have shown predominant thalamic activation PhD well by Doose1 (pronounced dough sah: http://www. and default mode network deactivation.6–8 Even Tadaaki Mano, MD, PhD youtube.com/watch?v5hNNiWXV2wF0), is a general- Lennox-Gastaut syndrome, a devastating epileptic ized electroclinical syndrome with early onset charac- encephalopathy with EEG findings of runs of slow terized by myoclonic, atonic/astatic, generalized spike and wave and paroxysmal higher frequency Correspondence to tonic-clonic, and absence seizures (but not tonic activity, has fMRI correlates that are more focal than Dr. Zempel: [email protected] seizures) in association with generalized spike-wave expected in a syndrome with widespread EEG (GSW) discharges. Thought to have a genetic com- abnormalities.9,10 Neurology® 2014;82:1486–1487 ponent that has proven to be complicated,2 MAE EEG-fMRI is maturing as a research and clinical sometimes occurs in children who have otherwise technique. Recording scalp EEG in an electrically been developing normally and has variable outcome. hostile environment is not an easy task. Substantial MAE is typically treated with antiseizure medications technical artifacts, such as changing imaging gradients that are used for generalized epilepsy syndromes, with and ballistocardiogram (ECG-linked artifact observed perhaps a best response to valproate, felbamate, or the in the scalp electrodes), contaminate the EEG signal. ketogenic diet.3,4 However, the relatively distinctive EEG discharges in In this issue of Neurology®, Moeller et al.5 report patients with epilepsy have partially circumvented on the fMRI correlates of GSW discharges as mea- this problem.
    [Show full text]
  • Emergency Department Management of Neuroleptic Malignant Syndrome
    The Journal of Emergency Medicine, Vol. -, No. -, pp. 1–4, 2016 Ó 2016 Elsevier Inc. All rights reserved. 0736-4679/$ - see front matter http://dx.doi.org/10.1016/j.jemermed.2015.10.042 Selected Topics: Psychiatric Emergencies PSYCHIATRIC EMERGENCIES FOR CLINICIANS: EMERGENCY DEPARTMENT MANAGEMENT OF NEUROLEPTIC MALIGNANT SYNDROME Michael P. Wilson, MD, PHD,*† Gary M. Vilke, MD,*† Stephen R. Hayden, MD,* and Kimberly Nordstrom, MD, JD‡§ *University of California at San Diego Medical Center, San Diego, California, †Department of Emergency Medicine Behavioral Emergencies Research (DEMBER) Laboratory, University of California San Diego, San Diego, California, ‡Denver Health Medical Center, Department of Behavioral Health, Psychiatric Emergency Service, Denver, Colorado, and §University of Colorado Denver, School of Medicine, Aurora, Colorado Reprint Address: Michael P. Wilson, MD, PHD, Department of Emergency Medicine, University of California at San Diego Medical Center, 200 West Arbor Drive, Mail Code #8676, San Diego, CA, 92103 , Keywords—altered mental status; neuroleptic malig- What Do You Think is Going on with This Patient? nant syndrome; dystonia; catatonia; rigidity The clinical presentation suggests neuroleptic malignant syndrome (NMS). Although first described more than 50 years ago, the diagnosis of NMS is primarily CLINICAL SCENARIO clinical (1). A 25-year-old man presents with a recent diagnosis of schizophrenia. He was discharged 1 week earlier from What Key Findings Lead to the Diagnosis? an inpatient psychiatric unit. His mother states that he has been acting ‘‘differently’’ for the past 2 days. He Clues to an NMS diagnosis include a recent diagnosis of a has not been ‘‘making any sense,’’ has felt warm to the psychotic disorder and inpatient psychiatric hospitaliza- touch, and today has been stiff and moving rigidly like tion.
    [Show full text]
  • ILAE Classification and Definition of Epilepsy Syndromes with Onset in Childhood: Position Paper by the ILAE Task Force on Nosology and Definitions
    ILAE Classification and Definition of Epilepsy Syndromes with Onset in Childhood: Position Paper by the ILAE Task Force on Nosology and Definitions N Specchio1, EC Wirrell2*, IE Scheffer3, R Nabbout4, K Riney5, P Samia6, SM Zuberi7, JM Wilmshurst8, E Yozawitz9, R Pressler10, E Hirsch11, S Wiebe12, JH Cross13, P Tinuper14, S Auvin15 1. Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesu’ Children’s Hospital, IRCCS, Member of European Reference Network EpiCARE, Rome, Italy 2. Divisions of Child and Adolescent Neurology and Epilepsy, Department of Neurology, Mayo Clinic, Rochester MN, USA. 3. University of Melbourne, Austin Health and Royal Children’s Hospital, Florey Institute, Murdoch Children’s Research Institute, Melbourne, Australia. 4. Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Necker–Enfants Malades Hospital, APHP, Member of European Reference Network EpiCARE, Institut Imagine, INSERM, UMR 1163, Université de Paris, Paris, France. 5. Neurosciences Unit, Queensland Children's Hospital, South Brisbane, Queensland, Australia. Faculty of Medicine, University of Queensland, Queensland, Australia. 6. Department of Paediatrics and Child Health, Aga Khan University, East Africa. 7. Paediatric Neurosciences Research Group, Royal Hospital for Children & Institute of Health & Wellbeing, University of Glasgow, Member of European Refence Network EpiCARE, Glasgow, UK. 8. Department of Paediatric Neurology, Red Cross War Memorial Children’s Hospital, Neuroscience Institute, University of Cape Town, South Africa. 9. Isabelle Rapin Division of Child Neurology of the Saul R Korey Department of Neurology, Montefiore Medical Center, Bronx, NY USA. 10. Programme of Developmental Neurosciences, UCL NIHR BRC Great Ormond Street Institute of Child Health, Department of Clinical Neurophysiology, Great Ormond Street Hospital for Children, London, UK 11.
    [Show full text]
  • Dr. Frederick Andermann, OC, OQ, MD, FRCPC September 26, 1930 – June 16, 2019
    Dr. Frederick Andermann, OC, OQ, MD, FRCPC September 26, 1930 – June 16, 2019. Dr. Frederick Andermann, one of Canada's most distinguished neurologists, passed away quietly on June 16, 2019 in Montreal at the age of 88. Loving husband and scientific collaborator for 54 years of Dr. Eva Andermann (née Deutsch), devoted father and father-in-law of Lisa Andermann and Michael Prokaziuk, Anne Andermann and Carlos Fraenkel, Mark Andermann and Maria Lehtinen, and cherished Opapa of his grandchildren Hannah and James Prokaziuk, Lara and Ben Fraenkel, and Leila and Kaija Andermann. For over 60 years, Dr. Andermann showed a remarkable ability to identify rare neurological syndromes and assemble multidisciplinary teams of researchers to better understand these unusual presentations and to provide patients and families with hope for treatment. The results of his inquiries have been published in nine books and over 500 scientific papers. The Andermanns were also credited with having described a rare genetically-inherited neurological condition associated with agenesis of the corpus callosum and peripheral neuropathy that is now known as Andermann Syndrome. Dr. Andermann was a generous and enthusiastic teacher, providing training and inspiration to generations of future epilepsy experts from all over the world. Dr. Andermann has been recognized for his outstanding achievements and is the winner of numerous awards and prizes. These include appointment as an Officer of the Order of Canada and of the Order of Quebec, as well as a Fellow of the Royal Society of Canada, for his distinguished work in science. A survivor of the Holocaust, Dr. Andermann was a devoted son to his mother Anny (née Hubner) and his father Adolf Andermann, and a caring nephew to his aunt Julia.
    [Show full text]
  • Lafora Disease Masquerading As Hepatic Dysfunction
    Thomas Jefferson University Jefferson Digital Commons Abington Jefferson Health Papers Abington Jefferson Health 8-24-2018 Lafora Disease Masquerading as Hepatic Dysfunction Faisal Inayat Allama Iqbal Medical College Waqas Ullah Abington Jefferson Health Hanan T. Lodhi University of Nebraska at Omaha Zarak H. Khan St. Mary Mercy Hospital Livonia Ghulam Ilyas SUNY Downstate Medical Center Follow this and additional works at: https://jdc.jefferson.edu/abingtonfp See next page for additional authors Part of the Gastroenterology Commons, and the Medical Genetics Commons Let us know how access to this document benefits ouy Recommended Citation Inayat, Faisal; Ullah, Waqas; Lodhi, Hanan T.; Khan, Zarak H.; Ilyas, Ghulam; Ali, Nouman Safdar; and Abdullah, Hafez Mohammad A., "Lafora Disease Masquerading as Hepatic Dysfunction" (2018). Abington Jefferson Health Papers. Paper 7. https://jdc.jefferson.edu/abingtonfp/7 This Article is brought to you for free and open access by the Jefferson Digital Commons. The Jefferson Digital Commons is a service of Thomas Jefferson University's Center for Teaching and Learning (CTL). The Commons is a showcase for Jefferson books and journals, peer-reviewed scholarly publications, unique historical collections from the University archives, and teaching tools. The Jefferson Digital Commons allows researchers and interested readers anywhere in the world to learn about and keep up to date with Jefferson scholarship. This article has been accepted for inclusion in Abington Jefferson Health Papers by an authorized administrator of the Jefferson Digital Commons. For more information, please contact: [email protected]. Authors Faisal Inayat, Waqas Ullah, Hanan T. Lodhi, Zarak H. Khan, Ghulam Ilyas, Nouman Safdar Ali, and Hafez Mohammad A.
    [Show full text]
  • RLS), a Clinical Diagnosis
    Liza Ashbrook, MD February 10, 2017 Recent Advances in Neurology Patient 1 This 70-year-old man has restless leg syndrome (RLS), a clinical diagnosis. RLS affects 5-10% of the adult population of European ancestry, though likely only 2-3% come to clinical attention. The cause of RLS is not clear but it is associated with low central iron stores. This is supported by evidence from autopsy studies, CSF analysis, gradient echo MRI and transcranial ultrasound. A family history of RLS is reported in 63-92% of individuals suggesting a strong genetic component as well. RLS is typically separated into intermittent symptoms, defined by fewer than twice/week over a year and chronic symptoms. When symptoms are only bothersome intermittently, such as a long plane flight, medications such as carbidopa/levodopa 25/100 can be very effective, however use more than twice weekly can lead to augmentation. Benzodiazepines and hypnotics are also recommended only for as needed use. Periodic limb movements (PLMs) occur in up to 80% of patients with RLS and are diagnosed by polysomnography. These are stereotyped kicking movements and patients are usually unaware of their presence though bed partners may complain. A small subset of those with PLMs are thought to have periodic leg movement disorder (PLMD), defined by PLMs causing either night time or daytime impairment. Other causes of insomnia and hypersomnia must be ruled out and those with RLS cannot have a diagnosis of PLMD. PLMs are of unclear clinical significance and may be a part of normal aging or an epiphenomenon. RLS and PLMs are commonly confused.
    [Show full text]