Beyond Wernicke's
Abstract
Because no one has ever composed a glossary of psychiatry's numerous eponyms, the author collected eponymous signs and syndromes for a behavioral lexicon. Eponyms are included if they recall a real person, if they have special relevance to psychiatry, and if they describe an abnormal symptom or syndrome that we consider clinically important today, even if American physicians no longer favor the eponym. The author used MEDLINE and Campbell's Psychiatric Dictionary to locate candidates for the glossary. A brief definition and suggested reference accompany each entry.
Eponyms, names derived from the name of a person, were once popular heuristic devices. European medicine still employs them more than American medicine, which has gradually abandoned them. Psychiatry may have discarded eponyms more aggressively than other fields, perhaps from a desire to be precise. DSM-III's authors explicitly eliminated them, for example. Many countries still use eponyms to pay tribute to a native physician. No one has ever collected behavioral signs and syndromes to make a glossary for psychiatry house staff. The lexicon below, which is a comprehensive list of psychiatric signs and syndromes, facilitates exam preparation and general review. Each entry describes a sign or syndrome currently thought to be clinically significant. MEDLINE describes most of the entries by their eponyms, demonstrating some currency for these terms.
METHODS
MEDLINE and Campbell's Psychiatric Dictionary were used to locate most entries.1 No particular search string was employed, but when the author encountered an eponym during his training, he located explanatory references from MEDLINE, especially those that mentioned the eponym in their title or abstract. He read through all of the entries in Campbell's to systematically identify missed eponyms that satisfy criteria listed below. The bibliography contains either the original description of each condition or sign, or a useful modern reference.
This lexicon includes eponyms if they meet the following criteria:
| 1. | They describe an abnormal sign or syndrome that is currently considered clinically significant, even if the eponym itself is out of favor; for example, the list excludes Beard's disease (neurasthenia) and Erichsen's disease (railway spine) but includes Kanner syndrome (autism) and Hakim-Adams syndrome (normal-pressure hydrocephalus). | ||||
| 2. | They recall a real person, not a fictional one; for example, Dorian Gray, Othello, and Diogenes syndromes are excluded. | ||||
| 3. | They have particular relevance to psychiatry. | ||||
| 4. | More than one or two authors endorse their use. | ||||
RESULTS
Seventy-four signs and syndromes meet the above criteria. A list follows:
Alzheimer disease: Dementia characterized by early memory loss, neurofibrillary tangles, and senile plaques; its associated atrophy affects frontal lobes after other areas.2
Angelman syndrome: Congenital syndrome of mental retardation and epilepsy that is distinctive for puppetlike movements, compulsive laughter, and heritability. A chromosome 15 deletion causes Angelman, the same defect as in Prader-Willi syndrome, but in Angelman the mother transmits the deletion.3
Anton syndrome: Condition of blindness in which patient denies he cannot see and confabulates; a specific type of anosognosia. This condition is classically but not exclusively associated with bilateral occipital cortex lesions.4
Asperger disorder: Developmental disorder similar to autism, except that patients have no impairment in communication.5
Balint syndrome: Constellation of symptoms that includes fixation of gaze, neglect of objects in visual surround, and misreaching, usually due to bilateral superior parieto-occipital lesions.6
Bell mania: Disorganized hyperactivity (as opposed to waxy flexibility and rigidity in Stauder's 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.7
Binswanger disease: A specific type of multi-infarct dementia (a subtype of DSM-IV Vascular Dementia) in which infarcts selectively affect the white matter.8
Briquet syndrome: Somatization Disorder; the disorder of multiple somatic complaints across different organ systems as a manifestation of anxiety.9
Broca aphasia: Aphasia characterized by impoverished or absent speech, preserved comprehension, and disturbed repetition, due to a lesion of Broca's area, the language area in the language-dominant frontal lobe.10
Brueghel syndrome: Trigeminal dystonia that affects the mouth, sometimes provoked by antipsychotics.11
Capgras syndrome: The belief that strangers in disguise have replaced persons known to the patient.12
Charcot-Wilbrand syndrome: “Global cessation of dreaming”; the loss of all or part of dreaming after brain injury.13
Charles Bonnet syndrome: Visual hallucinations in the context of reduced eyesight.14
Clerambault-Kandinsky syndrome: The syndrome of “mental automatism,” which is similar to Schneiderian “thought insertion” in schizophrenia; in French diagnosis, however, Clerambault-Kandinsky has a more varied prognosis than schizophrenia. The syndrome includes any paranoid psychosis in which thought insertions predominate, regardless of etiology.15
[Cornelia] de Lange syndrome: Congenital mental retardation distinctive for patients' self-injury, hyperactivity, sleeplessness, and aggression.16
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.17
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.18
Da Costa syndrome: Panic Disorder; the condition of debilitating anxiety attacks accompanied by attempts to avoid such attacks.19
De Clerambault syndrome: Erotomania, or more specifically a female patient's belief that a wealthier older man, whom she does not know, loves her.20
Down syndrome: Syndrome usually caused by trisomy,21 with mongoloid habitus, mental retardation, cardiac defects, and Alzheimer disease pathology after age 40 in virtually all patients, although not all patients have perceptible cognitive decline in addition to their mental retardation.21
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.23,24
Fahr disease: Idiopathic calcification of basal ganglia that causes dementia and abnormal extra movements, often comorbid with obsessive-compulsive and mood symptoms.25
Fregoli delusion: Belief that strangers are actually persons well known to the patient, in disguise.26
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.28
Gélineau syndrome: Narcolepsy; a disorder with daytime sleepiness, cataplexy, sleep paralysis, hypnagogic hallucinations, and association with various human lymphocyte antigens.29
Gerstmann syndrome: Finger agnosia, agraphia, right-left disorientation, and dyscalculia, associated with dominant parietal lobe lesions.30
Gerstmann-Sträussler-Scheinker disease: Transmissible prion disease that causes dementia and affects only individuals with specific autosomal-dominant defects of chromosome 20.31
Gjessing syndrome: “Periodic catatonia”; a disorganized state of withdrawal or agitation that fluctuates on and off.32
Hakim-Adams syndrome: Normal-pressure hydrocephalus; the accumulation of cerebrospinal fluid in the ventricles without a large rise in intracranial pressure, which often causes dementia, gait apraxia, and incontinence; shunting reverses the dementia if it is identified in time.33
Hashimoto encephalitis: Treatable encephalopathy associated with autoimmune thyroiditis.34
Heller syndrome: Childhood Disintegrative Disorder; the loss of milestones in multiple domains after age 2.35
Hoigne syndrome: Acute psychosis due to intravenous injection of penicillin.36
Hoover sign: Unconsciously exerted downward pressure with a healthy leg when the paretic leg is challenged; its absence demonstrates a feigned deficit.37
Huntington disease: Congenital dementia caused by autosomal-dominant trinucleotide repeats on chromosome 4 that lead to caudate damage, dementia, personality change, chorea, and death.38
Kahlbaum syndrome: Catatonia; a syndrome of waxy posturing or purposeless agitation or speech, treated with benzodiazepines and ECT.39
Kanner syndrome: Autism; a developmental disorder with abnormal communication, impaired social interaction, repetitive behavior, and symptoms before the age of 3 years.40
Kleine-Levin syndrome: Syndrome of hyperphagia, hypersexuality, and hypersomnia classically described in male adolescents.41
Klinefelter syndrome: Genetic condition in which extra X chromosomes (e.g., XXY) cause small testis, tall stature, and mild mental retardation; it is associated with antisocial behavior.42
Klüver-Bucy syndrome: Syndrome of temporal lobe damage involving hypersexuality and hyperorality.43
Korsakoff syndrome: Chronic amnesia characterized by difficulty in learning new information (anterograde amnesia), manifesting as confabulation; caused by thiamin deficiency and totally or partially reversible in some cases.44
Kozhevnikov syndrome: Continuous partial epilepsy leading to progressive cognitive deterioration.45
Kulenkampff-Tarnow syndrome: Neck-face syndrome or dyskinetic-hypertonic syndrome; an acute dystonia of the neck and face that may be provoked by antipsychotics; the eponym is exclusively Eastern European.46
Landau-Kleffner syndrome: Continuous partial simple epilepsy selectively causing loss of language development in children.47
Langfeldt psychosis: Psychosis without the declining course of schizophrenia. American physicians never employ the eponym because American psychiatric diagnosis has evolved to depend on presumed etiology and the affective/schizophrenic distinction, rather than psychiatric symptoms.48
Lesch-Nyhan syndrome: Congenital mental retardation caused by a chromosome 26 deletion, with defective purine metabolism and ferocious self-injury.49
Lewy body disease: Cortical dementia with Lewy bodies (the pathological finding in Parkinson Disease) diffusely distributed throughout the brain and with prominent psychiatric symptoms in addition to dementia. Patients may or may not have associated parkinsonian symptoms, and many are extremely sensitive to antipsychotics.50
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.52
Marinescu reflex: Palmomental reflex; the movement of the chin after stroking the palm, which, when unilateral, suggests frontal or diffuse brain damage; the eponym is exclusively Eastern European.53
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 attention-deficit hyperactivity disorder.54
Meige syndrome: Dystonic blepharospasm; recurrent involuntary blinking caused by a hypodopaminergic state such as that induced by antipsychotics.55
Morvan disease: Involuntary muscle fiber activity, hyperhydrosis, and sleeplessness that leads to death in weeks if not treated; possibly autoimmune.56
Myerson sign: Glabellar tap reflex; a failure to extinguish blinking after 4 taps on the forehead that suggests frontal, diffuse, or extrapyramidal disease.57
Parkinson disease/syndrome: The “disease” is the idiopathic degeneration of the substantia nigra that causes resting tremor, bradykinesia, and rigidity; the “syndrome” is these symptoms due to some other cause, such as medication.58
Pick disease: Dementia with frontal and temporal atrophy, early personality change, and Pick bodies found postmortem.59
Prader-Willi syndrome: Congenital form of mental retardation distinctive for patients' compulsive eating and self-mutilation; caused by a chromosome 15 deletion.60
Rasmussen syndrome: Unilateral brain atrophy and continuous epilepsy that results in cognitive decline until the affected portion of brain is removed.61
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).”62
Sanfilippo syndrome: Congenital mental retardation caused by a chromosome 12 deletion, distinctive for aggression and insomnia.63
Smith-Magenis syndrome: Congenital mental retardation distinctive for severe self-injury and “self-hugging” behavior.64
Stauder's lethal catatonia: The former name for lethal catatonia. The symptoms are arguably identical to those of neuroleptic malignant syndrome (fever, rigidity, delirium). Bell mania refers to agitated catatonia; Stauder's refers to the rigid, hypokinetic type of lethal catatonia. Both Stauder's and Bell occur in the absence of neuroleptics, and therefore they are very rare in the developed world.65
Steele-Richardson-Olszewski disease: Dementia with ataxia, loss of ability to look up or down, and parkinsonism.66
Strauss syndrome: Attention-Deficit/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 obsessive-compulsive symptoms (first described by Osler) that have been characterized recently as “PANDAS” when they occur alone.68
Tourette syndrome: Disorder with both motor and vocal tics (sometimes coprolalia), often comorbid with obsessive-compulsive symptoms.69
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 obsessive-compulsive symptoms;22 the subject of Oliver Sacks's book Awakenings and the movie based on it.
Waxman-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.70
Wernicke aphasia: Fluent aphasia characterized by meaningless but productive speech, disturbed comprehension, and disturbed repetition, due to a lesion of the language area with the same eponym (Wernicke's) in the language-dominant temporal lobe.71
Wernicke encephalopathy: Triad of delirium, ataxia, and abnormal eye movements associated with thiamin deficiency, particularly in alcohol abusers.72
Williams syndrome: Congenital syndrome of mental retardation with deletion on chromosome 7, distinctive for patients' fluent verbal ability and “elfin” face.73 Also know as Williams-Beuren or Fanconi-Schlesinger syndrome
Wilson disease: Congenital recessive condition of defective copper metabolism due to 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 central nervous system is affected) by finding Kaiser-Fleischer rings in the cornea with a slit-lamp, though these are not universally present. A more reliable diagnosis depends on low ceruloplasmin and elevated copper in urine and liver biopsies.74
Wolfram syndrome: Rare autosomal recessive syndrome caused by 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.75
DISCUSSION
Identification of syndromes or signs that are relevant to psychiatry as opposed to other specialties is arbitrary. There are numerous eponymous neurodegenerative conditions of childhood, for example, in which patients rarely present to a psychiatrist because they do not survive infancy (e.g., Tay-Sachs). These were excluded. Even though psychiatrists treat so many mentally retarded patients, the numerous eponyms of congenital mental retardation have been excluded unless they have distinctive behavioral phenotypes. Some neurodegenerative diseases of adults or the aged have been included if they are part of the differential diagnosis of cognitive impairment or personality change (e.g. Creutzfeldt-Jakob)—complaints that psychiatrists frequently address. On the other hand, numerous eponyms that represent general medical conditions with huge psychiatric comorbidity, such as Cushing's disease, were not included.
There are several reasons why house staff and educators may not recognize all of the eponyms in this lexicon. One eponym represents a concept incompatible with the American diagnostic system: Clerambault-Kandinsky. Two eponyms are purely regional: the Marinescu sign, which outside Eastern Europe is called the palmomental reflex, and Kulenkampff-Tarnow syndrome, also Eastern European, which describes acute neck and face dystonia. European physicians employ some eponyms that American physicians eschew. Others are archaic terms for current diagnoses.
Defending the use of eponyms in psychiatry over alternative names is difficult. Many do not fit into any international diagnostic classification. Yet they are useful heuristic devices that serve to recall the syndrome itself, as well as the person who first described it. Finally, many eponyms illustrate the emphasis placed on a particular aspect of psychiatric illness in a particular place and at a particular point in the evolution of behavioral science.
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