Eponyms and rare syndromes Flashcards
Congenital syndrome characterised by intellectual disability, epilepsy, laughter and hand flapping
Angelman syndrome
Syndrome characteristic of blindness but inability to accept blindness with confabulation
Anton’s syndrome
Area of brain damage leading to Anton’s syndrome
Occipital lobe
Syndrome featuring a triad of inability to perceive the whole visual field at once, difficulty fixating the eyes, and inability to move the hand to a specific object by sight
Bálint’s syndrome
Area of brain damage leading to bálint’s syndrome
Bilateral superior parietooccipital
A quickly developing disorganised mania with grandiosity, emotional lability, hyperthermia and rarely death
Bell’s mania
Type of multi-infarct dementia where infarcts target the deep white matter
Binswanger’s disease
Features of Binswanger’s disease
Memory loss
Urinary incontinence or urgency
Slow, unsteady gait
Eponymous name for somatisation disorder involving multiple somatic complaints over different parts of the body
Briquet syndrome
Type of dystonia which combines blepharospasm with oromandibular dystonia
Brueghel’s syndrome/Meige’s syndrome
The belief that people known to the patient are actually strangers in disguise
Capgras syndrome
The loss of the ability to dream or mentally visualise images after focal brain damage
Charcot-Wilbrand syndrome
Visual hallucinations associated with loss of eyesight
Charles Bonnet syndrome
Syndrome in paranoid psychosis where thought insertion is predominant (can be part of various disorders e.g. schizophrenia)
Clerambault-Kandinsky syndrome
Developmental disorder characterised by an abnormally low pitched voice and distinctive craniofacial features including a short and broad skull, an upturned nasal tip and long eyelashes
Cornelia de Lange syndrome
Belief common in psychotic depression that one is already dead, or all or part of oneself does not exist
Cotard syndrome
Degenerative brain disorder caused by prions, exists in familial and sporadic form
Creutzfeldt-Jacob disease
Features of Creutzfeldt-Jacob disease
Rapidly progressive dementia Myoclonus Ataxia Triphasic waves on EEG Spongiform appearance of the brain after death
Psychiatric syndrome which presents with symptoms similar to cardiovascular disease, including SOB, palpitations, sweating and chest pain
Da Costa syndrome
Delusional belief that another person, often of higher social status, is secretly in love with the patient
De Clerambault syndrome
Delusional belief of infestation of the skin with parasites
Ekbom syndrome
Inherited neurological disorder characterised by calcification of the basal ganglia causing dementia, poor motor function, OCD symptoms and mood symptoms
Fahr disease
The belief that strangers are actually people well known to the patient but in disguise
Fregoli syndrome
Syndrome of approximate answers, characterised by dissociative symptoms, pseudohallucinations, amnesia for the incidences and a decreased level of consciousness
Ganser syndrome
Population typically associated with Ganser syndrome
Inmate population
Episodes of unexplained, painful bruising caused by psychological stress
Gardner-Diamond syndrome
Method of reproducing rash seen in Gardner syndrome
S/C injection of the patient’s own blood
Alternative name for narcolepsy
Gélineau syndrome
Tetrad of symptoms associated with Gerstmann syndrome
- Dysgraphia
- Dyscalculia
- Finger agnosia (inability to distinguish between the fingers of the hand)
- Left-right disorientation
Area of brain lesion typically causing Gerstmann syndrome
Dominant parietal lobe near the angular gyrus
Fatal autosomal dominant neurodegenerative disorder caused by a defect on chromosome 20 which causes dysarthria, ataxia, pyramidal signs and dementia
Gerstmann-Sträussler-Scheinker disease
Group of behaviours consisting of hypergraphia, hyper-religiosity, hyposexuality and inappropriate social interactions
Geschwind syndrome
Cause of Geschwind syndrome
Temporal lobe epilepsy
Type of periodic catatonia which fluctuates
Gjessing syndrome
Eponymous name for normal pressure hydrocephalus
Hakim-Adams syndrome
Classic triad of symptoms in normal pressure hydrocephalus
Dementia
Urinary incontinence
Broad-based gait
Condition characterised by severe and sudden regressions or developmental delays; can present like autism. Also known as childhood disintegrative disorder
Heller’s syndrome
Acute psychotic reaction to the injection of IV penicillin
Hoigne syndrome
Sign showing evidence of lack of effort. Patient has a weak leg which they cannot lift, but when they lift the healthy leg against downward pressure the ‘weak’ leg pushes down into the bed
Hoover sign
Catatonic state characterised by continuous repetition of words and sentences that are meaningless
Kahlbaum syndrome
Type of autism also known as classic autistic disorder
Kanner’s syndrome
Syndrome seen in male teenagers characterised by rapid onset episodic hyperphagia, hypersomnia and hypersexuality
Kleine-Levin syndrome
Chronic amnesia caused by thiamine deficiency, characterised by anterograde amnesia and confabulation
Korsakoff syndrome
Continuous simple focal seizures manifesting in repetitive muscle twitching, eventually causing cognitive decline
Kozhevnikov syndrome
Childhood form of epilepsy characterised by seizures (either visible or present on EEG during sleep) and loss of language development
Landau-Kleffner syndrome
Described as a type of schizophrenia with only the psychosis and not the gradually declining course; in retrospect usually actually a case of psychotic affective disorder
Langfeldt psychosis
Neurological and behavioural difficulties - especially self injury - associated with overproduction of uric acid
Lesch Nyhan syndrome
Sex affected by Lesch Nhyan syndrome
Males
Peduncular hallucinosis due to a lesion in the midbrain
Lhermitte syndrome
Dementia due to demyelination of the corpus callosum, associated with alcohol excess and especially red wine excess
Marchiafava-Bignami disease
Primitive reflex, also called the palmomental reflex, where stroking part of the palm causes the chin to twitch
Marinescu reflex
Alternative name for fragile X syndrome
Martin-Bell syndrome
Genetic disorder characterised by intellectual disability, long and narrow face, large ears and large testicles
Fragile X syndrome
Mode of inheritance of fragile X syndrome
X-linked dominant
Neurodevelopmental disorders associated with fragile X syndrome
ADHD
Autism
Likely autoimmune disorder characterised by muscle twitching, insomnia and hyperhidrosis
Morvan’s syndrome
Natural course of Morvan’s syndrome
Spontaneous remission in 90%
Death in 10%
Idiopathic degeneration of the substantia nigra causing Parkinsonian symptoms
Parkinson’s disease
Parkinsonian symptoms due to another cause than idiopathic degeneration of the substantia nigra e.g. drug use
Parkinson’s syndrome
Eponymous name for a subtype of frontotemporal dementia, characterised by early behavioural and personality change
Pick disease
Genetic cause of intellectual impairment associated with hypotonia and poor feeding in infancy, and then constant hunger and obesity in older children and adults
Prader-Willi syndrome
Chromosome affected in Prader-Willi syndrome
15
Chronic progressive inflammation of one cerebral hemisphere causing frequent seizures and progressive intellectual disability, unilateral weakness and language problems
Rasmussen encephalitis
Genetic disorder which becomes apparent at age 6-18 months, characterised by microcephaly, reversal of cognitive and social development, ataxia and hand-wringing behaviour
Rett syndrome
Sex affected almost exclusively by Rett syndrome
Female
Chromasome affected by Rett syndrome
X
Mucopolysaccharidosis type III characterised by symptoms appearing between ages 2-6 with symptoms including hyperactivity, aggressive behaviour and insomnia
Sanfilippo syndrome
Developmental disorder characterised by self-injury and ‘self-hugging’ behaviour; usually chromosome 17 affected
Smith-Magenis syndrome
Eponymous name for progressive supranuclear palsy
Steele-Richardson-Olszewksi syndrome
Features of progressive supranuclear palsy
Impaired balance and walking
Inability to look down
Parkinsonian features
Old eponymous name for ADHD
Strauss syndrome
Movement disorder that occurs after rheumatic fever, often preceded by obsessive compulsive symptoms
Sydenham chorea
Epidemic in the early 20th century causing viral encephalitis characterised by lethargy, fever, reversal of sleep tendencies, and catatonia
Von Economo disease
Thiamine deficiency characterised by a triad of delirium, ataxia, and abnormal eye movements
Wernicke encephalopathy
Developmental disorder characterised by an ‘elfin’ face, congenital heart disease, and an outgoing or talkative personality
Williams syndrome
Chromosome affected by Williams syndrome
7
Condition where defective copper metabolism causes symptoms of liver disease, tremor, tics, and psychiatric symptoms
Wilson’s disease
Likely laboratory findings in Wilson’s disease
Low ceruloplasmin
Elevated copper levels in urine
Inherited condition causing diabetes insipidus, diabetes mellitus, optic atrophy, and deafness
Wolfram syndrome
