01 - 530_Eponyms

530_Eponyms.pdf

Eponyms Eponyms & uncommon syndromes

Angelman syndrome: Congenital syndrome of mental retardation and epilepsy that is distinctive for puppetlike movements, compulsive laughter, and heritability.

Anton syndrome: Condition of blindness in which patient denies he cannot see and confabulates; a particular type of anosognosia. This condition is classically but not exclusively associated with bilateral occipital cortex lesions.

Balint syndrome: Constellation of symptoms that include fixation of gaze, neglect of objects in visual surround, and misreaching, usually due to bilateral superior parietooccipital lesions.

Bell mania: Disorganized hyperactivity (as opposed to waxy flexibility and rigidity in lethal catatonia) that can be fatal if untreated; the syndrome is rare, probably because of the widespread use of antipsychotics, and the eponym is antiquated.

Binswanger disease: A particular type of multi-infarct dementia (a subtype of DSM-IV Vascular Dementia) in which infarcts selectively affect the white matter.

Briquet syndrome: Somatization Disorder; the disorder of multiple somatic complaints across different organ systems as a manifestation of anxiety.

Brueghel syndrome: Trigeminal dystonia that affects the mouth, sometimes provoked by antipsychotics.

Capgras syndrome: The belief that strangers in disguise have replaced persons known to the patient.

Charcot-Wilbrand syndrome: "Global cessation of dreaming"; the loss of all or part of dreaming after brain injury.

Charles Bonnet syndrome: Visual hallucinations in the context of reduced eyesight.

Clerambault-Kandinsky syndrome: The syndrome that includes any paranoid psychosis in which thought insertions predominate, regardless of etiology.

[Cornelia] de Lange syndrome: Congenital mental retardation distinctive for patients' self-injury, hyperactivity, sleeplessness, and aggression.

Cotard syndrome: Patient's belief that he does not exist, that part of him is not there (e.g., his organs), or that he is dead.

Eponyms Creutzfeldt-Jakob disease: Rapidly progressive dementia caused by transmissible prions (proteinaceous infectious particles) and distinctive for ataxia, myoclonus, EEG triphasic waves, and the diffuse spongiform appearance of the patient's brain after death.

Da Costa syndrome: Panic Disorder; the condition of debilitating anxiety attacks accompanied by attempts to avoid such attacks.

De Clerambault syndrome: Erotomania, or more specifically a female patient's belief that a wealthier older man, whom she does not know, loves her. Ekbom syndrome: 1) delusional parasitosis, the belief that the skin is infested with parasites, sometimes associated with cocaine use; 2) restless legs syndrome, the condition of annoying sensations in the extremities that disturbs sleep onset. European physicians prefer the first definition, Americans the second.

Fahr disease: Idiopathic calcification of basal ganglia that causes dementia and abnormal extra movements, often comorbid with obsessive-compulsive and mood symptoms.

Fregoli delusion: Belief that strangers are actually persons well known to the patient, in disguise.

Ganser syndrome: The symptom of answering all questions approximately; e.g., "2+2=5."27

Gardner-Diamond syndrome: Purpura associated with psychological stress; subcutaneous injection of patients' own blood reproduces the rash in the (mostly female) sufferers.

Gélineau syndrome: Narcolepsy; a disorder with daytime sleepiness, cataplexy, sleep paralysis, hypnagogic hallucinations, and association with various human lymphocyte antigens.

Gerstmann syndrome: Finger agnosia, agraphia, right-left disorientation, and dyscalculia, associated with dominant parietal lobe lesions.

Gerstmann-Sträussler-Scheinker disease: Transmissible prion disease that causes dementia and affects only individuals with particular autosomaldominant defects of chromosome

Geschwind syndrome: Constellation of interictal behavior including hyposexuality, hyperreligiosity, hypergraphia, and "viscosity" (not observing appropriate social boundaries in conversation), all seen in some patients with chronic temporal lobe epilepsy.

Gjessing syndrome: "Periodic catatonia"; a disorganized state of withdrawal or agitation that fluctuates on and off.

Hakim-Adams syndrome: Normal pressure hydrocephalus; the accumulation of cerebrospinal fluid in the ventricles without a significant rise in intracranial pressure, which often causes dementia, gait apraxia, and incontinence; shunting reverses the dementia if it is identified in time.

Heller syndrome: Childhood Disintegrative Disorder; the loss of milestones in multiple domains after age

Hoigne syndrome: Acute psychosis due to the intravenous injection of penicillin.

Eponyms Hoover sign: Unconsciously exerted downward pressure with a healthy leg when the paretic leg is challenged; its absence demonstrates a feigned deficit.

Kahlbaum syndrome: Catatonia; a syndrome of waxy posturing or purposeless agitation or speech, treated with benzodiazepines and ECT.

Kanner syndrome: Autism; a developmental disorder with abnormal communication, impaired social interaction, repetitive behavior, and symptoms before the age of 3 years.

Kleine-Levin syndrome: Syndrome of hyperphagia, hypersexuality, and hypersomnia classically described in male adolescents.

Klüver-Bucy syndrome: Syndrome of temporal lobe damage involving hypersexuality and hyperorality.

Korsakoff syndrome: Chronic amnesia characterized by difficulty in learning new information (anterograde amnesia), manifesting as confabulation; caused by thiamin deficiency and wholly or partially reversible in some cases.

Kozhevnikov syndrome: Continuous partial epilepsy leading to progressive cognitive deterioration.

Landau-Kleffner syndrome: Continuous partial simple epilepsy selectively causing loss of language development in children.

Langfeldt psychosis: Psychosis without the declining course of schizophrenia.

Lesch-Nyhan syndrome: Congenital mental retardation caused by a chromosome 26 deletion, with defective purine metabolism and ferocious self-injury.

Lhermitte syndrome: Peduncular hallucinosis; bizarre hallucinations (classically, visions of Lilliputians) without other psychosis, due to a lesion in the midbrain.51

Marchiafava-Bignami disease: Dementia due to callosal degeneration, associated with chronic alcohol (particularly wine) abuse.

Marinescu reflex: Palmomental reflex; the movement of the chin after stroking the palm, which, when unilateral, suggests frontal or diffuse brain damage.

Martin-Bell syndrome: Fragile X– linked mental retardation, a condition due to trinucleotide repeats on the X chromosome that is the most common genetic cause of mental retardation; particularly important in psychiatry because many patients suffer from autism and virtually all have attentiondeficit hyperactivity disorder.

Meige syndrome: Dystonic blepharospasm; recurrent involuntary blinking caused by a hypodopaminergic state such as that induced by antipsychotics.

Morvan disease: Involuntary muscle fiber activity, hyperhidrosis, and sleeplessness that leads to death in weeks if not treated; possibly autoimmune.

Myerson sign: Glabellar tap reflex; a failure to extinguish blinking after 4 taps on the forehead that suggests frontal, diffuse, or extrapyramidal disease.

Parkinson disease/syndrome: The "disease" is the idiopathic degeneration

Eponyms of the substantia nigra that causes resting tremor, bradykinesia, and rigidity; the "syndrome" is these symptoms due to some other cause, such as medication.

Pick disease: Dementia with frontal and temporal atrophy, early personality change, and Pick bodies found postmortem.

Prader-Willi syndrome: a congenital form of mental retardation distinctive for patients' compulsive eating and self-mutilation; caused by a chromosome 15 deletion.

Rasmussen syndrome: Unilateral brain atrophy and continuous epilepsy that results in cognitive decline until the affected portion of the brain is removed.

Rett syndrome: Developmental disorder caused by an X-linked dominant mutation that is found mostly in girls and involves acquired microcephaly, reversal of cognitive and social development, ataxia, and "hand-wringing (stereotypic hand movements and manual dyspraxia)."

Sanfilippo syndrome: Congenital mental retardation caused by a chromosome 12 deletion, distinctive for aggression and insomnia.

Smith-Magenis syndrome: Congenital mental retardation distinctive for severe self-injury and "self-hugging" behavior.

Steele-Richardson-Olszewski disease: Dementia with ataxia, loss of ability to look up or down, and parkinsonism.

Strauss syndrome: AttentionDeficit/Hyperactivity Disorder; the condition of inattention and/or hyperactivity once known as "minimal brain damage syndrome."67

Sydenham chorea: Movement disorder that follows rheumatic fever; often preceded by obsessivecompulsive symptoms (first described by Osler) that have been characterized recently as "PANDAS" when they occur alone.

Tourette syndrome: Disorder with both motor and vocal tics (sometimes coprolalia), often comorbid with obsessive-compulsive symptoms.

Von Economo disease: Encephalitis lethargica, a syndrome that afflicted many victims of a viral epidemic in the early 20th century and distinctive for Parkinsonism, lethargy, and obsessivecompulsive symptoms.

Wernicke encephalopathy: Triad of delirium, ataxia, and abnormal eye movements associated with thiamin deficiency, particularly in alcohol abusers.

Williams syndrome: Congenital syndrome of mental retardation with a deletion on chromosome 7, distinctive for patients' fluent verbal ability and "elfin" face.

Wilson disease: Congenital recessive condition of defective copper metabolism due to a defect in chromosome 13, characterized by hepatic symptoms and later psychiatric symptoms and choreoathetosis as various organ systems are overwhelmed by copper. It can be diagnosed (once the central nervous system is affected) by finding KaiserFleischer rings in the cornea with a slit-lamp though these are not universally present. A more reliable diagnosis depends on low

Eponyms ceruloplasmin and elevated copper in urine and liver biopsies.

Wolfram syndrome: Rare autosomal recessive syndrome caused by a defect in chromosome 4, with diabetes, bilateral optic atrophy, and diverse psychiatric disorders. Heterozygotes for the Wolfram mutation are extremely common (occurring in 1% of the population), and those having them may be at high risk for psychiatric illness.

DISCLAIMER: This material is developed from various revision notes assembled while preparing for MRCPsych exams. The content is periodically updated with excerpts from various published sources including peer-reviewed journals, websites, patient information leaflets and books. These sources are cited and acknowledged wherever possible; due to the structure of this material, acknowledgments have not been possible for every passage/fact that is common knowledge in psychiatry. We do not check the accuracy of drug-related information using external sources; no part of these notes should be used as prescribing information.

This excerpt is from: Bresch, D. (2002) Beyond Wernicke’s: A Lexicon of Eponyms in Psychiatry J Neuropsychiatry Clin Neurosci 14: 155-160