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Assessment > Eponyms and rare syndromes > Flashcards

Eponyms and rare syndromes Flashcards

1
Q

Congenital syndrome characterised by intellectual disability, epilepsy, laughter and hand flapping

A

Angelman syndrome

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2
Q

Syndrome characteristic of blindness but inability to accept blindness with confabulation

A

Anton’s syndrome

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3
Q

Area of brain damage leading to Anton’s syndrome

A

Occipital lobe

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4
Q

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

A

Bálint’s syndrome

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5
Q

Area of brain damage leading to bálint’s syndrome

A

Bilateral superior parietooccipital

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6
Q

A quickly developing disorganised mania with grandiosity, emotional lability, hyperthermia and rarely death

A

Bell’s mania

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7
Q

Type of multi-infarct dementia where infarcts target the deep white matter

A

Binswanger’s disease

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8
Q

Features of Binswanger’s disease

A

Memory loss
Urinary incontinence or urgency
Slow, unsteady gait

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9
Q

Eponymous name for somatisation disorder involving multiple somatic complaints over different parts of the body

A

Briquet syndrome

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10
Q

Type of dystonia which combines blepharospasm with oromandibular dystonia

A

Brueghel’s syndrome/Meige’s syndrome

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11
Q

The belief that people known to the patient are actually strangers in disguise

A

Capgras syndrome

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12
Q

The loss of the ability to dream or mentally visualise images after focal brain damage

A

Charcot-Wilbrand syndrome

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13
Q

Visual hallucinations associated with loss of eyesight

A

Charles Bonnet syndrome

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14
Q

Syndrome in paranoid psychosis where thought insertion is predominant (can be part of various disorders e.g. schizophrenia)

A

Clerambault-Kandinsky syndrome

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15
Q

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

A

Cornelia de Lange syndrome

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16
Q

Belief common in psychotic depression that one is already dead, or all or part of oneself does not exist

A

Cotard syndrome

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17
Q

Degenerative brain disorder caused by prions, exists in familial and sporadic form

A

Creutzfeldt-Jacob disease

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18
Q

Features of Creutzfeldt-Jacob disease

A 
Rapidly progressive dementia
Myoclonus
Ataxia
Triphasic waves on EEG
Spongiform appearance of the brain after death
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19
Q

Psychiatric syndrome which presents with symptoms similar to cardiovascular disease, including SOB, palpitations, sweating and chest pain

A

Da Costa syndrome

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20
Q

Delusional belief that another person, often of higher social status, is secretly in love with the patient

A

De Clerambault syndrome

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21
Q

Delusional belief of infestation of the skin with parasites

A

Ekbom syndrome

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22
Q

Inherited neurological disorder characterised by calcification of the basal ganglia causing dementia, poor motor function, OCD symptoms and mood symptoms

A

Fahr disease

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23
Q

The belief that strangers are actually people well known to the patient but in disguise

A

Fregoli syndrome

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24
Q

Syndrome of approximate answers, characterised by dissociative symptoms, pseudohallucinations, amnesia for the incidences and a decreased level of consciousness

A

Ganser syndrome

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25
Q

Population typically associated with Ganser syndrome

A

Inmate population

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26
Q

Episodes of unexplained, painful bruising caused by psychological stress

A

Gardner-Diamond syndrome

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27
Q

Method of reproducing rash seen in Gardner syndrome

A

S/C injection of the patient’s own blood

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28
Q

Alternative name for narcolepsy

A

Gélineau syndrome

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29
Q

Tetrad of symptoms associated with Gerstmann syndrome

A
  1. Dysgraphia
  2. Dyscalculia
  3. Finger agnosia (inability to distinguish between the fingers of the hand)
  4. Left-right disorientation
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30
Q

Area of brain lesion typically causing Gerstmann syndrome

A

Dominant parietal lobe near the angular gyrus

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31
Q

Fatal autosomal dominant neurodegenerative disorder caused by a defect on chromosome 20 which causes dysarthria, ataxia, pyramidal signs and dementia

A

Gerstmann-Sträussler-Scheinker disease

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32
Q

Group of behaviours consisting of hypergraphia, hyper-religiosity, hyposexuality and inappropriate social interactions

A

Geschwind syndrome

33
Q

Cause of Geschwind syndrome

A

Temporal lobe epilepsy

34
Q

Type of periodic catatonia which fluctuates

A

Gjessing syndrome

35
Q

Eponymous name for normal pressure hydrocephalus

A

Hakim-Adams syndrome

36
Q

Classic triad of symptoms in normal pressure hydrocephalus

A

Dementia
Urinary incontinence
Broad-based gait

37
Q

Condition characterised by severe and sudden regressions or developmental delays; can present like autism. Also known as childhood disintegrative disorder

A

Heller’s syndrome

38
Q

Acute psychotic reaction to the injection of IV penicillin

A

Hoigne syndrome

39
Q

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

A

Hoover sign

40
Q

Catatonic state characterised by continuous repetition of words and sentences that are meaningless

A

Kahlbaum syndrome

41
Q

Type of autism also known as classic autistic disorder

A

Kanner’s syndrome

42
Q

Syndrome seen in male teenagers characterised by rapid onset episodic hyperphagia, hypersomnia and hypersexuality

A

Kleine-Levin syndrome

43
Q

Chronic amnesia caused by thiamine deficiency, characterised by anterograde amnesia and confabulation

A

Korsakoff syndrome

44
Q

Continuous simple focal seizures manifesting in repetitive muscle twitching, eventually causing cognitive decline

A

Kozhevnikov syndrome

45
Q

Childhood form of epilepsy characterised by seizures (either visible or present on EEG during sleep) and loss of language development

A

Landau-Kleffner syndrome

46
Q

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

A

Langfeldt psychosis

47
Q

Neurological and behavioural difficulties - especially self injury - associated with overproduction of uric acid

A

Lesch Nyhan syndrome

48
Q

Sex affected by Lesch Nhyan syndrome

A

Males

49
Q

Peduncular hallucinosis due to a lesion in the midbrain

A

Lhermitte syndrome

50
Q

Dementia due to demyelination of the corpus callosum, associated with alcohol excess and especially red wine excess

A

Marchiafava-Bignami disease

51
Q

Primitive reflex, also called the palmomental reflex, where stroking part of the palm causes the chin to twitch

A

Marinescu reflex

52
Q

Alternative name for fragile X syndrome

A

Martin-Bell syndrome

53
Q

Genetic disorder characterised by intellectual disability, long and narrow face, large ears and large testicles

A

Fragile X syndrome

54
Q

Mode of inheritance of fragile X syndrome

A

X-linked dominant

55
Q

Neurodevelopmental disorders associated with fragile X syndrome

A

ADHD

Autism

56
Q

Likely autoimmune disorder characterised by muscle twitching, insomnia and hyperhidrosis

A

Morvan’s syndrome

57
Q

Natural course of Morvan’s syndrome

A

Spontaneous remission in 90%

Death in 10%

58
Q

Idiopathic degeneration of the substantia nigra causing Parkinsonian symptoms

A

Parkinson’s disease

59
Q

Parkinsonian symptoms due to another cause than idiopathic degeneration of the substantia nigra e.g. drug use

A

Parkinson’s syndrome

60
Q

Eponymous name for a subtype of frontotemporal dementia, characterised by early behavioural and personality change

A

Pick disease

61
Q

Genetic cause of intellectual impairment associated with hypotonia and poor feeding in infancy, and then constant hunger and obesity in older children and adults

A

Prader-Willi syndrome

62
Q

Chromosome affected in Prader-Willi syndrome

A

15

63
Q

Chronic progressive inflammation of one cerebral hemisphere causing frequent seizures and progressive intellectual disability, unilateral weakness and language problems

A

Rasmussen encephalitis

64
Q

Genetic disorder which becomes apparent at age 6-18 months, characterised by microcephaly, reversal of cognitive and social development, ataxia and hand-wringing behaviour

A

Rett syndrome

65
Q

Sex affected almost exclusively by Rett syndrome

A

Female

66
Q

Chromasome affected by Rett syndrome

A

X

67
Q

Mucopolysaccharidosis type III characterised by symptoms appearing between ages 2-6 with symptoms including hyperactivity, aggressive behaviour and insomnia

A

Sanfilippo syndrome

68
Q

Developmental disorder characterised by self-injury and ‘self-hugging’ behaviour; usually chromosome 17 affected

A

Smith-Magenis syndrome

69
Q

Eponymous name for progressive supranuclear palsy

A

Steele-Richardson-Olszewksi syndrome

70
Q

Features of progressive supranuclear palsy

A

Impaired balance and walking
Inability to look down
Parkinsonian features

71
Q

Old eponymous name for ADHD

A

Strauss syndrome

72
Q

Movement disorder that occurs after rheumatic fever, often preceded by obsessive compulsive symptoms

A

Sydenham chorea

73
Q

Epidemic in the early 20th century causing viral encephalitis characterised by lethargy, fever, reversal of sleep tendencies, and catatonia

A

Von Economo disease

74
Q

Thiamine deficiency characterised by a triad of delirium, ataxia, and abnormal eye movements

A

Wernicke encephalopathy

75
Q

Developmental disorder characterised by an ‘elfin’ face, congenital heart disease, and an outgoing or talkative personality

A

Williams syndrome

76
Q

Chromosome affected by Williams syndrome

A

7

77
Q

Condition where defective copper metabolism causes symptoms of liver disease, tremor, tics, and psychiatric symptoms

A

Wilson’s disease

78
Q

Likely laboratory findings in Wilson’s disease

A

Low ceruloplasmin

Elevated copper levels in urine

79
Q

Inherited condition causing diabetes insipidus, diabetes mellitus, optic atrophy, and deafness

A

Wolfram syndrome

Assessment (22 decks)

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