DOCSLIB.ORG

Progressive Familial Choreoathetosis with Cutaneous Telangiectasia by Charles E

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Progressive Familial Choreoathetosis with Cutaneous Telangiectasia by Charles E J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.20.2.98 on 1 May 1957. Downloaded from J. Neurol. Neurosurg. Psychiat., 1957, 20, 98 PROGRESSIVE FAMILIAL CHOREOATHETOSIS WITH CUTANEOUS TELANGIECTASIA BY CHARLES E. WELLS and G. MILTON SHY From the Medical Neurology Branch, National Institute of Neurological Diseases and Blindness, National Institutes of Health, Public Health Service, Department of Health, Education, and Welfare, Bethesda, M.D., U.S.A. Progressive athetosis beginning in childhood after clasp-knife type was noted bilaterally in the upper the neonatal period is a rare clinical phenomenon and lower extremities, more marked on the left. which has been further clarified into only a small The lower extremities were strongly adducted with number of distinct clinical entities. The purpose of some scissoring. Strength was well preserved. No this communication is to direct attention to the choreo-athetotic movements were evident. Ankle incidence of this phenomenon in two sisters, each clonus was present bilaterally and the deep tendon of whom subsequently developed progressive reflexes were active and equal on the two sides. bilaterally symmetrical cutaneous telangiectasia. There were no skin lesions in any way resembling The L family is composed of healthy non-con- those in her younger sisters. Protected by copyright. sanguinous parents (ages 45 and 54 years) whose The two younger children present similar clinical only children are three girls, all of whom are affected syndromes which differ from that in the eldest. with progressive neurological disorders. The two The onset of the disorder in the two younger siblings younger siblings present a similar clinical syndrome, was at ages 5 and 7. Its inception was characterized whereas the oldest manifests a different disease by difficulty in motility in hitherto normal children. pattern. The only other known affection of the Abnormal movements of the trunk and extremities nervous system within the family is Parkinson's while at rest were then noted, followed by progressive disease which occurred in three of the paternal difficulty with speech. Two to three years after the forebears (Fig. 1). appearance of the above symptoms, cutaneous The oldest child (IV-d) appears to have a different lesions were first observed in each of the children. disorder clinically from that in the two younger. The distribution of these lesions was similar in This child, now 14 years of age, was born after a each. These were most evident below the eyes, in normal period of gestation but was cyanotic at birth. the antecubital and popliteal fossae, and over the She was not considered abnormal, however, until dorsum of the hands, forearms, legs, feet, and the after an episode of fever, diarrhoea, and lethargy anterior neck region. at 6 months of age. She has been regarded as Physical examination revealed choreo-athetosis http://jnnp.bmj.com/ retarded, both physically and mentally, since that involving the face, tongue, trunk, and extremities. time. She learned to walk only after special training Inconstant difficulties in conjugate ocular deviation and this ability has regressed within the past several in all directions was noted. A staggering gait with years. Speech has never been purposeful. Psycho- propulsive characteristics was observed, along with logical studies have shown her to be at the idiot poor coordination which was not out of proportion level. The disorder appears to be progressive. to the involuntary movements. Examinations earlier On examination* the child was very over-active in the disease by other investigators indicated that and was continually repeating stereotyped phrases. the amount of incoordination may have been exces- on October 2, 2021 by guest. She never appeared to fix her attention on any person sive in proportion to the involuntary movements or object. No nystagmus was present. Vision was then apparent. Strength was normal throughout preserved. The extremities were symmetrical and and skeletal musculature well preserved. No increase displayed no atrophy. Talipes valgus were present. or decrease in resistance to passive movement was Marked resistance to passive movement of the observed. Excepting the ocular movements and athetosis of the tongue, face, and neck, examination * We are indebted to Dr. William J. Logue of the Pennhurst State of the cranial nerves revealed no abnormality. School, Spring City, Pa., for permission to examine this patient. Sensation remained intact. The deep tendon reflexes 98 J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.20.2.98 on 1 May 1957. Downloaded from PROGRESSIVE FAMILIAL CHOREOATHETOSIS 99 FAMILY L.$ a b c d * a 9 h I r T Y" T f 57 65+ 61 97 I I a b c d a> f h i j k 63 68 20 70's 62 57 I 60's 60d 9e oXOf a h ro 45 60O *~ 54, ~~ 21T12 az b c d e f 14 10 9 21 17 13 8 7 10 Protected by copyright. f Affected siblings Ox9 Alive, unaffected ? Retarded older sibling 0e Parkinson's Disease ,e? Dead, unaffected FIG. 1.-Pedigree of family L. t Numbers below the figures indicate ages at present or at It-c hypertension, congestive heart failure death, when known. II-d = acute diarrhoeal disease * I-d's oldest brother developed mental retardation and Il-e = diabetes, renal abscess abnormalities of gait and speech following measles at 2-3 years 1I-f= appendicitis of age. No other neurological disorders known in her family. II-g = Parkinson's disease Causes of death, when known. 11-h = cerebrovascular accident = I-a cerebrovascular accident II- i = coronary occlusion = I-b hypertension, cerebrovascular accident II-h = rectal carcinoma I-c = uraemia Il-k = Parkinson's disease, suicide I-h = Parkinson's disease were absent while the abdominal reflexes remained months. She always appeared slightly clumsy to her active and the plantar response, downgoing. parents, but this was not considered to be of unusual Mentation in both children appeared normal. degree. At 5 years it was first noted that she had difficulty Speech was noticeably slow and indistinct, associated in holding her head steady. Within the year her parents http://jnnp.bmj.com/ with facial grimacing and respiratory irregularity. observed that she never walked slowly but always Multiple minute vascular channels which appeared to run from one spot to another. She developed blanched difficulties with balance, tending to totter from side to on pressure were present in the conjunctivae, in the side while walking, and she began to spill fluids from skin under the eyes, across the bridge of the nose, glasses. At 6 years slow, undulating movements of the in the periclavicular area, antecubital and popliteal trunk and extremities while at rest were seen, and her fossae, and on the dorsum of the forearm, hand, leg, speech became slurred and hard to understand. By 7 and foot. years, facial grimacing had made its appearance, and her The remainder of the physical examination handwriting showed deterioration. on October 2, 2021 by guest. revealed no abnormality except hepatomegaly in These difficulties have been progressive since the onset, the youngest child. Clinical pathological investiga- though the advancement appears to have been slowed during the past year. At present the child is tions revealed no abnormalities. severely disabled. Her gait is quick-stepped, with much staggering in all directions, She is able to feed and to dress herself Case Histories with much effort. She attends school where no evidence Case IV-e (Age 10 Years, 8 Months).-The birth and of any mental deterioration has been noted. early development were entirely normal. The child Within the past one or two years, many small bright began to walk at 11 months of age and to talk at 16-18 red spots which blanche on pressure have been noted in J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.20.2.98 on 1 May 1957. Downloaded from - ;:. t' 1. .. ..h. Protected by copyright. ... A..... .;_ 'N. http://jnnp.bmj.com/ ...... .4 ! :. .:. on October 2, 2021 by guest. .^. -, _EA. ,of~~~~~~~l .. _o :f/. '" 01. FIG...:..2 (a, b,,c, d).-Typicalv.. skinL.t-t:lesions:.in Patient;......IV-e.3 FIG. 3 (a. b, c. d).-Typical skin lesions in Patient IV-f. J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.20.2.98 on 1 May 1957. Downloaded from PROGRESSIVE FAMILIAL CHOREOATHETOSIS 101 her skin. These have developed below the eyes, across electroencephalogram showed a diffuse dysrhythmia. A the bridge of the nose, about the neck, in the antecubital serological test for syphilis was negative. Urine analysis and popliteal fossae, and over the dorsum of the forearms, revealed no significant abnormalities. Haematological hands, legs, and feet. The parents are quite certain that studies (including haematocrit, white blood cell and these were not present earlier in life. differential count, sedimentation rate, and platelet count) The past history and systemic review were unremark- were normal. The blood group was B, Rh positive. able. Studies for evaluation of liver function (alkaline phos- General physical examination was not significant phatase, cephalin flocculation, thymol turbidity, total except for the skin lesions (Fig. 2). These consisted of protein, albumin-globulin ratio, prothrombin time, serum rather localized reticular areas of telangiectasia, which bilirubin, cholesterol, bromsulphalein) were within blanched on pressure, in the bulbar conjunctivae, normal limits, as were blood urea nitrogen and fasting beneath the eyes, over the bridge of the nose, the anterior blood sugar. Studies for evidence of hepatolenticular and upper chest, in the antecubital and popliteal fossae, degeneration (total urinary amino-acids, urinary copper, and over the dorsum of the forearms, hands, legs, and serum copper, ceruloplasmin, serum uric acid) were feet. Dr. Eugene Van Scott, consultant in dermatology, negative. In addition, specific quantitative and qualitative observed that these lesions did not resemble those seen urinary amino-acid and sugar studies disclosed no in the Osler-Rendu-Weber syndrome, Sturge-Weber- abnormalities.
Load more

Recommended publications
  • Dystonia and Chorea in Acquired Systemic Disorders
    J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.65.4.436 on 1 October 1998. Downloaded from 436 J Neurol Neurosurg Psychiatry 1998;65:436–445 NEUROLOGY AND MEDICINE Dystonia and chorea in acquired systemic disorders Jina L Janavs, Michael J AminoV Dystonia and chorea are uncommon abnormal Associated neurotransmitter abnormalities in- movements which can be seen in a wide array clude deficient striatal GABA-ergic function of disorders. One quarter of dystonias and and striatal cholinergic interneuron activity, essentially all choreas are symptomatic or and dopaminergic hyperactivity in the nigros- secondary, the underlying cause being an iden- triatal pathway. Dystonia has been correlated tifiable neurodegenerative disorder, hereditary with lesions of the contralateral putamen, metabolic defect, or acquired systemic medical external globus pallidus, posterior and poste- disorder. Dystonia and chorea associated with rior lateral thalamus, red nucleus, or subtha- neurodegenerative or heritable metabolic dis- lamic nucleus, or a combination of these struc- orders have been reviewed frequently.1 Here we tures. The result is decreased activity in the review the underlying pathogenesis of chorea pathways from the medial pallidus to the and dystonia in acquired general medical ventral anterior and ventrolateral thalamus, disorders (table 1), and discuss diagnostic and and from the substantia nigra reticulata to the therapeutic approaches. The most common brainstem, culminating in cortical disinhibi- aetiologies are hypoxia-ischaemia and tion. Altered sensory input from the periphery 2–4 may also produce cortical motor overactivity medications. Infections and autoimmune 8 and metabolic disorders are less frequent and dystonia in some cases. To date, the causes. Not uncommonly, a given systemic dis- changes found in striatal neurotransmitter order may induce more than one type of dyski- concentrations in dystonia include an increase nesia by more than one mechanism.
    [Show full text]
  • Myelopathy—Paresis and Paralysis in Cats
    Myelopathy—Paresis and Paralysis in Cats (Disorder of the Spinal Cord Leading to Weakness and Paralysis in Cats) Basics OVERVIEW • “Myelopathy”—any disorder or disease affecting the spinal cord; a myelopathy can cause weakness or partial paralysis (known as “paresis”) or complete loss of voluntary movements (known as “paralysis”) • Paresis or paralysis may affect all four limbs (known as “tetraparesis” or “tetraplegia,” respectively), may affect only the rear legs (known as “paraparesis” or “paraplegia,” respectively), the front and rear leg on the same side (known as “hemiparesis” or “hemiplegia,” respectively) or only one limb (known as “monoparesis” or “monoplegia,” respectively) • Paresis and paralysis also can be caused by disorders of the nerves and/or muscles to the legs (known as “peripheral neuromuscular disorders”) • The spine is composed of multiple bones with disks (intervertebral disks) located in between adjacent bones (vertebrae); the disks act as shock absorbers and allow movement of the spine; the vertebrae are named according to their location—cervical vertebrae are located in the neck and are numbered as cervical vertebrae one through seven or C1–C7; thoracic vertebrae are located from the area of the shoulders to the end of the ribs and are numbered as thoracic vertebrae one through thirteen or T1–T13; lumbar vertebrae start at the end of the ribs and continue to the pelvis and are numbered as lumbar vertebrae one through seven or L1–L7; the remaining vertebrae are the sacral and coccygeal (tail) vertebrae • The brain
    [Show full text]
  • Clinical Decision Making in Neurology
    CLINICAL DECISION MAKING IN NEUROLOGY The Neurological Examination The goals of the neurological examination are to detect the presence of a neurologic disease and to determine the location of the lesion within the nervous system. The neurologic examination should be performed in a systematic manner in order to assure that the animal's neurologic status is completely evaluated. The parts of a customary neurologic examination include evaluation of the head (mentation and cranial nerves), gait, limbs (postural reactions and spinal reflexes) and pain/nociception (normal and abnormal pain responses). Gait Evaluation I find gait evaluation the most useful and important part of the neurologic exam. Clinical evaluation of gait usually involves observation of the animal's movements while walking. This is best accomplished by having a handler walk the animal over a flat, non-slippery area. I typically evaluate gait by having a handler walk the animal approximately 100 feet, away and back, as well as circling clockwise and counterclockwise. I have the animal short on the leash and under good control and have the dog typically walk slowly. I may have them walk on and off the curb. Overall, evaluation is made by watching for paresis, ataxia, stride length, lameness, stiffness, spasticity, dysmetria and shuffling or scuffing of limbs or digits. I also note position of head and tail during gait evaluation. Gait analysis is broken down between the axial and appendicular skeleton. The axial vertebral column is made up of many joints and is divided into anatomical segments. The axial portion includes the head, neck, thoracic, lumbar, lumbar/pelvic and tail.
    [Show full text]
  • Post Stroke Focal Aware Seizures Presenting As Delayed Onset Choreoathetosis
    Lehigh Valley Health Network LVHN Scholarly Works Department of Medicine Post Stroke Focal Aware Seizures Presenting as Delayed Onset Choreoathetosis Artish Patel USF MCOM - LVHN Campus, [email protected] Patrick Davis USF MCOM - LVHN Campus, [email protected] Beth Stepanczuk MD Lehigh Valley Health Network, [email protected] Follow this and additional works at: https://scholarlyworks.lvhn.org/medicine Part of the Medicine and Health Sciences Commons Published In/Presented At Patel, A., Davis, P., & Stepanczuk, B. (2021, February 9-13). Post Stroke Focal Aware Seizures Presenting as Delayed Onset Choreoathetosis. [Poster presentation]. Association of Academic Physiatrists Annual Meeting, Virtual. This Poster is brought to you for free and open access by LVHN Scholarly Works. It has been accepted for inclusion in LVHN Scholarly Works by an authorized administrator. For more information, please contact [email protected]. Post Stroke Focal Aware Seizures Presenting as Delayed Onset Choreoathetosis Artish Patel, MD, BS, Patrick Davis, MD, BS, and Beth Stepanczuk, MD Lehigh Valley Health Network; Allentown, Pa. Setting Case Description Discussion Outpatient follow-up office She initially presented with acute onset confusion, nausea, This patient offered a rare case of focal aware seizures vomiting, and aphasia. Imaging revealed acute left parietal presenting as delayed onset choreoathetosis of the right Patient temporal intraparenchymal hemorrhage with surrounding upper extremity secondary to acute left parietal temporal 39-year-old female with history of migraines and recent left parietal edema and restricted diffusion consistent with infarction intraparenchymal hemorrhage. It has been documented that temporal intraparenchymal hemorrhage presenting at three- secondary to superior sagittal sinus thrombosis.
    [Show full text]
  • Neurological Principles and Rehabilitation of Action Disorders
    Neurorehabilitation and Neural Repair Neurological Principles and Rehabilitation Supplement to 25(5) 21 S-32S ©TheAuthor(s) 2011 Reprints and permission: http://www. of Action Disorders: Common sagepub.com/journalsPermissions.nav 001: 10.1177/1545968311410941 Clinical Deficits http://nnr.sagepub.com ~SAGE I 3 K. Sathian, MO, PhO , Laurel J. Buxbaum, Psy02, Leonardo G. Cohen, M0 , 4 6 John W. Krakauer, M0 , Catherine E. Lang, PhO\ Maurizio Corbetta, M0 , 6 and Susan M. Fitzpatrick, Ph0 ,7 In this chapter, the authors use the computation, anatomy, and physiology (CAP) principles to consider the impact of common clinical problems on action They focus on 3 major syndromes: paresis, apraxia, and ataxiaThey also review mechanisms that could account for spontaneous recovery, using what is known about the best-studied clinical dysfunction-paresis-and also ataxia. Together, this and the previous chapter lay the groundwork for the third chapter in this series, which reviews the relevant rehabilitative interventions. Paresis may tilt as it is raised or a key may fall from the fingers. Once Phenomenology the object is in hand, a person with paresis has difficulty mov­ ing it to some locations. Lifting the cup to the mouth, where The most common motor disorder experienced by individuals the ann movement is close to and directly in front of the body, after central nervous system damage is paresis. In the strictest is usually much easier than lifting the cup to a shoulder-height sense, paresis is the reduced ability to voluntarily activate the shelf on the opposite side of the body. Reaching movements spinal motor neurons.
    [Show full text]
  • Paraneoplastic Neurological and Muscular Syndromes
    Paraneoplastic neurological and muscular syndromes Short compendium Version 4.5, April 2016 By Finn E. Somnier, M.D., D.Sc. (Med.), copyright ® Department of Autoimmunology and Biomarkers, Statens Serum Institut, Copenhagen, Denmark 30/01/2016, Copyright, Finn E. Somnier, MD., D.S. (Med.) Table of contents PARANEOPLASTIC NEUROLOGICAL SYNDROMES .................................................... 4 DEFINITION, SPECIAL FEATURES, IMMUNE MECHANISMS ................................................................ 4 SHORT INTRODUCTION TO THE IMMUNE SYSTEM .................................................. 7 DIAGNOSTIC STRATEGY ..................................................................................................... 12 THERAPEUTIC CONSIDERATIONS .................................................................................. 18 SYNDROMES OF THE CENTRAL NERVOUS SYSTEM ................................................ 22 MORVAN’S FIBRILLARY CHOREA ................................................................................................ 22 PARANEOPLASTIC CEREBELLAR DEGENERATION (PCD) ...................................................... 24 Anti-Hu syndrome .................................................................................................................. 25 Anti-Yo syndrome ................................................................................................................... 26 Anti-CV2 / CRMP5 syndrome ............................................................................................
    [Show full text]
  • The Clinical Approach to Movement Disorders Wilson F
    REVIEWS The clinical approach to movement disorders Wilson F. Abdo, Bart P. C. van de Warrenburg, David J. Burn, Niall P. Quinn and Bastiaan R. Bloem Abstract | Movement disorders are commonly encountered in the clinic. In this Review, aimed at trainees and general neurologists, we provide a practical step-by-step approach to help clinicians in their ‘pattern recognition’ of movement disorders, as part of a process that ultimately leads to the diagnosis. The key to success is establishing the phenomenology of the clinical syndrome, which is determined from the specific combination of the dominant movement disorder, other abnormal movements in patients presenting with a mixed movement disorder, and a set of associated neurological and non-neurological abnormalities. Definition of the clinical syndrome in this manner should, in turn, result in a differential diagnosis. Sometimes, simple pattern recognition will suffice and lead directly to the diagnosis, but often ancillary investigations, guided by the dominant movement disorder, are required. We illustrate this diagnostic process for the most common types of movement disorder, namely, akinetic –rigid syndromes and the various types of hyperkinetic disorders (myoclonus, chorea, tics, dystonia and tremor). Abdo, W. F. et al. Nat. Rev. Neurol. 6, 29–37 (2010); doi:10.1038/nrneurol.2009.196 1 Continuing Medical Education online 85 years. The prevalence of essential tremor—the most common form of tremor—is 4% in people aged over This activity has been planned and implemented in accordance 40 years, increasing to 14% in people over 65 years of with the Essential Areas and policies of the Accreditation Council age.2,3 The prevalence of tics in school-age children and for Continuing Medical Education through the joint sponsorship of 4 MedscapeCME and Nature Publishing Group.
    [Show full text]
  • EMERGENCY CARE AID for ALTERNATING HEMIPLEGIA of CHILDHOOD (AHC) PATIENTS a Reference Guide for Medical Professionals
    EMERGENCY CARE AID FOR ALTERNATING HEMIPLEGIA OF CHILDHOOD (AHC) PATIENTS A Reference Guide for Medical Professionals AHC DEFINITION: (Handb Clin Neurol. 2013; 112:821-6) Alternating hemiplegia of childhood (AHC) is a very rare disease characterized by recurrent attacks of loss of muscular tone resulting in hypomobility of one side of the body. The etiology of the disease is due to ATP1A3 gene mutations in the majority of patients. AHC has an onset in the first few months of life. Hemiplegic episodes are often accompanied by other paroxysmal manifestations, such as lateral eyes and head deviation toward the hemiplegic side and a very peculiar monocular nystagmus. Movement disorders such as dystonia and abnormal movements are frequent. Cognitive delay of variable degree is a common feature. Epilepsy has been reported in 50% of the cases, but seizure onset is usually during the third or fourth year of life. Many drugs have been used in AHC with very few results. Flunarizine has the most supportive anecdotal evidence regarding efficacy. AHC RISK FACTORS: TREATMENT: (Neurol Genet. 2017 Apr; 3(2): e139) There is no specific treatment for AHC. There is no approved medication or device that alters the underlying deficit in the Na+/K+ pump (see Flunarizine next page). NEUROLOGICAL: (Neurology. 2019 Sep 24;93(13)) Epilepsy is present in over 50% of AHC patients. Epilepsy in AHC can be focal or generalized seizures. Dystonia is also a common feature that affects the majority of patients dealing with AHC. Patients with AHC can deteriorate either abruptly or gradually at the motor and intellectual function level, depending on the severity of their disease.
    [Show full text]
  • Athlete Info
    Name: DOB: HT: WT: M/F: Classification: Handler: Misc: BACKGROUND: Please provide us with the following information regarding your impairment in order for us to be better prepared to meet your needs and create a better learning experience. Q1. Using the attached Graphical Representation and Profiles List, please describe your impairment using a Profile number and marking the appropriate graphical representation (from ITU Paratriathlon Classification Rules and Regulations 2012 Edition). Please do your best and any questions we can answer at the camp. If you feel you fall under more than one profile, please include all that apply. Profile: ______ Q2. How long have you had this impairment: Birth: ______ Age: _______ / Reason: ___________ Additional comments: ________________________________________________________________ Q3. Type of prosthesis using for racing and/or training; please check which apply: a) Upper Limb (above elbow/below elbow): Cosmetic _____ Body-powered (cable controlled):_____: Externally powered (myoelectric, switch-controlled prostheses):_____ Hybrid : Cable to elbow or terminal device and battery powered: ___________ Excursion to elbow and battery-powered terminal device: __________ CONFIDENTIA Excursion to terminal device and battery-powered elbow: __________ Additional comments: _________________________________________________ b) Lower Limb (There are many types available, please specify): 1 Type of AK prosthesis: Type of BK prosthesis: Type of Foot: CONFIDENTIA 2 Q4. Training experience: - Do you use a heart rate
    [Show full text]
  • Progressive Supranuclear Palsy: Clinicopathological Concepts and Diagnostic Challenges
    Review Progressive supranuclear palsy: clinicopathological concepts and diagnostic challenges David R Williams, Andrew J Lees Lancet Neurol 2009; 8: 270–79 Progressive supranuclear palsy (PSP) is a clinical syndrome comprising supranuclear palsy, postural instability, and Faculty of Medicine mild dementia. Neuropathologically, PSP is defi ned by the accumulation of neurofi brillary tangles. Since the fi rst (Neurosciences), Monash description of PSP in 1963, several distinct clinical syndromes have been described that are associated with PSP; this University, Melbourne, discovery challenges the traditional clinicopathological defi nition and complicates diagnosis in the absence of a reliable, Australia (D R Williams FRACP); Reta Lila Weston Institute of disease-specifi c biomarker. We review the emerging nosology in this fi eld and contrast the clinical and pathological Neurological Studies, characteristics of the diff erent disease subgroups. These new insights emphasise that the pathological events and University College London, processes that lead to the accumulation of phosphorylated tau protein in the brain are best considered as dynamic London, UK (A J Lees FRCP, processes that can develop at diff erent rates, leading to diff erent clinical phenomena. Moreover, for patients for whom D R Williams); and Queen Square Brain Bank for the diagnosis is unclear, clinicians must continue to describe accurately the clinical picture of each individual, rather Neurological Disorders, than label them with inaccurate diagnostic categories, such as atypical parkinsonism or PSP mimics. In this way, the University College London, development of the clinical features can be informative in assigning less common nosological categories that give clues London, UK (A J Lees) to the underlying pathology and an understanding of the expected clinical course.
    [Show full text]
  • Dem11. Leukodystrophies.Pdf
    LEUKODYSTROPHIES Dem11 (1) Leukodystrophies Last updated: September 5, 2017 ADRENOLEUKODYSTROPHY .................................................................................................................... 2 METACHROMATIC LEUKODYSTROPHIES (S. SULFATIDE LIPIDOSES) ..................................................... 3 GLOBOID CELL LEUKODYSTROPHY (S. KRABBE DISEASE) .................................................................... 4 PELIZAEUS-MERZBACHER DISEASE ........................................................................................................ 4 CANAVAN DISEASE (S. SPONGY DEGENERATION OF NERVOUS SYSTEM)................................................ 5 COCKAYNE SYNDROME............................................................................................................................ 5 ALEXANDER DISEASE ............................................................................................................................... 5 LEUKODYSTROPHIES - uncommon genetic biochemical defects of: a) myelin formation (synthesis) → DYSMYELINATION (→ loss of defective myelin); abnormal lipids incorporated into defective myelin are metachromatic. b) myelin maintenance (turnover) → DEMYELINATION (e.g. many sudanophilic leukodystrophies). N.B. sudanophilia is produced when Sudan black reacts with neutral fat breakdown products of myelin; since myelin breakdown is result of variety of metabolic or acquired insults, sudanophilia provides no useful information about pathogenesis! it is very difficult to distinguish
    [Show full text]
  • Abnormal Movements in Critical Care Patients with Brain Injury: a Diagnostic Approach
    Abnormal movements in critical care patients with brain injury: a diagnostic approach The Harvard community has made this article openly available. Please share how this access benefits you. Your story matters Citation Hannawi, Yousef, Michael S. Abers, Romergryko G. Geocadin, and Marek A. Mirski. 2016. “Abnormal movements in critical care patients with brain injury: a diagnostic approach.” Critical Care 20 (1): 60. doi:10.1186/s13054-016-1236-2. http://dx.doi.org/10.1186/ s13054-016-1236-2. Published Version doi:10.1186/s13054-016-1236-2 Citable link http://nrs.harvard.edu/urn-3:HUL.InstRepos:26318575 Terms of Use This article was downloaded from Harvard University’s DASH repository, and is made available under the terms and conditions applicable to Other Posted Material, as set forth at http:// nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of- use#LAA Hannawi et al. Critical Care (2016) 20:60 DOI 10.1186/s13054-016-1236-2 REVIEW Open Access Abnormal movements in critical care patients with brain injury: a diagnostic approach Yousef Hannawi1,2,3*, Michael S. Abers4, Romergryko G. Geocadin1,2,5 and Marek A. Mirski1,2,5 Abstract Abnormal movements are frequently encountered in patients with brain injury hospitalized in intensive care units (ICUs), yet characterization of these movements and their underlying pathophysiology is difficult due to the comatose or uncooperative state of the patient. In addition, the available diagnostic approaches are largely derived from outpatients with neurodegenerative or developmental disorders frequently encountered in the outpatient setting, thereby limiting the applicability to inpatients with acute brain injuries.
    [Show full text]