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RACP Clinical Short > Neurology Short Case > Flashcards

Neurology Short Case Flashcards

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1
Q

Investigations for floppy strong

A

TFTs
Urine metabolic screen
Serum lactate
CT Brain
Karyotype and microarray

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2
Q

Inherited causes of floppy strong

A

Central cause - UMN lesion
Genetic e.g. PWS, T21
Structural e.g. lissencephaly
Neurodegenerative e.g. Tay-Sachs, MPS, Zellweger
Neurocutaneous e.g. Sturge Weber
Metabolic e.g. amino acidopathies

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3
Q

Acquired causes of floppy strong

A

Central cause - UMN lesion
Static encephalopathy, prematurity
Infection e.g. TORCH, meningitis, encephalitis
Ischaemia
Trauma
Endocrine e.g. hypothyroidism, hypopituitarism

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4
Q

Causes of floppy weak

A

Peripheral cause - LMN lesion
Anterior horn: SMA
Peripheral nerve: GBS, hereditary motor/sensory neuropathy
NMJ: myasthenia, infantile botulism
Muscle: congenital or infantile muscular dystrophy, congenital myopathies (e.g. central, core, nemaline rod)

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5
Q

Complications of hypotonia

A

Ophthalmoplegia
Aspiration
Head lag
Scoliosis
Weak cry, cough, chest infections
Constipation
Hip dislocation

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6
Q

Investigations for floppy weak

A

CK
EMG and nerve conduction studies
Muscle biopsy
Exome sequence on microarray

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7
Q

Central/UMN clinical signs

A

Decreased alertness, not age appropriate
Hypertonia +/- clonus
Normal or decreased power
Hyperreflexic + Babinski
Normal or decreased sensation
Decreased coordination
Features of spasticity; some spontaneous/antigravity movements

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8
Q

Peripheral/LMN clinical signs

A

Normal alertness
Hypotonia
Decreased power
Hyporeflexic
Decreased sensation
Normal or decreased coordination

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9
Q

UMN lesion differentials according to location

A

Spine: unlikely unilateral, no facial changes, sensory changes at level
Brainstem: arm/leg weakness, facial weakness on opposite side
Subcortical: arm/leg weakness, facial weakness on same side
Cortical: arm/leg weakness, facial weakness on same side, cortical signs (visual fields, aphasia)

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10
Q

LMN lesion/neuromuscular DDx according to location

A

Anterior horn cell: SMA, polio
Peripheral nerve: GBS, CMT
Neuromuscular junction: myasthenia gravis, botulism
Muscular dystrophy: congenital myopathies (central/core/nemaline), dystrophies (DMD/BMD/FSHD), congenital muscular or myotonic dystrophy

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11
Q

Anterior horn cell signs

A

Normal extraocular/face strength
**Tongue fasciculations +++
Proximal > distal and LL > UL power
Hyporeflexic or absent reflexes

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12
Q

Types of SMA

A

SMA 1 - never sit
SMA 2 - sit but not stand, mini myoclonus
SMA 3 - stand and walk

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13
Q

Peripheral nerve signs

A

Normal extraocular/face strength
**Distal weakness (++)
Hyporeflexic or absent reflexes
Wasting
High stepping gait
Distal sensory loss
Tremor in CMT

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14
Q

Neuromuscular junction signs

A

**Ptosis and ophthalmoplegia
Decreased extraocular and face strength
Proximal or distal weakness
Hyporeflexic
Fatiguability

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15
Q

Myopathy signs

A

Normal extraocular strength
Decreased face strength
Proximal weakness
Hyporeflexic
Fish tented mouth
Ophthamoplegia
Facial/bulbar involvement
Normal CK
Myotonia

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16
Q

Muscular dystrophy signs

A

Normal extraocular strength
Decreased face strength
Proximal weakness
Hyporeflexic
Increased CK

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17
Q

Congenital myotonic dystrophy signs

A

Normal extraocular strength
Decreased face strength
Proximal or distal weakness
Absent reflexes
Tented upper lip open mouth, high arched palate

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18
Q

Causes of chorea (irregular rapid movements)

A

Pathology in corpus striatum
Inherited: CP, Wilson’s, neurodegenerative (Lecsh Nyhan, Huntington’s), ataxia telangiectsia
Acquired
Infective: Sydenham’s, EBV
Immune: SLE
Drugs

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19
Q

Causes of athetosis (slow writhing movements of proximal extremities)

A

Pathology in putamen (same causes as chorea)
Inherited: CP, Wilson’s, neurodegenerative (Lecsh Nyhan, Huntington’s), ataxia telangiectasia
Acquired
Infective: Sydenham’s, EBV
Immune: SLE
Drugs

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20
Q

Causes of dystonia (abnormal posturing)

A

Inherited: CP, Wilson’s, dopa responsive, Hallevorden-Spatz, Huntington’s
Acquired: drugs

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21
Q

Causes of static tremor (present with rest and gone with action)

A

Wilson’s
Hallervorden-Spatz
Huntington’s

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22
Q

Causes of postural tremor (throughout range of movement)

A

Thyrotoxicosis
Phaeochromocytoma
Wilson’s
Familial
Cushing’s syndrome
Hypoglycaemia

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23
Q

Causes of intention tremor (end of movement only)

A

Cerebellar lesions (multiple sclerosis, stroke,
mass lesion), drugs, chronic alcoholism, Wilson’s

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24
Q

Causes of myoclonus (sudden, disorganised, irregular contraction of muscle/muscle group)

A

Primary seizure disorder
Structural brain abnormalities e.g. Aicardi
Degenerative e.g. neurocutaneous, Tay Sachs, WIlson’s
Ishcaemic
Infections e.g. HIV encephalopathy, SSPE
Metabolic e.g. amino acidopathies

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25
Key cerebellar signs
Ipsilateral to side of lesion (cross twice in brainstem) Dysdiadochokinesis Past pointing/dysmetria; dyssynergia Ataxic gait - wide-based, veer towards affected side, difficulties heel-toe walking Nystagmus Dysarthria (scanning), explosive speech Hypotonia, pendular reflexes Head titubation, truncal ataxia Romberg's +ve
26
Causes of ataxia (broad categories)
Cerebellar Vestibular (acute labyrinthitis) Dorsal-column loss Peripheral neuropathy
27
Investigations for cerebellar pathology
Urine dipstick: glycosuria in AT and FA (Friedreich's Ataxia) Imaging: CT/MRI - if no lesion, then genetic/metabolic evaluation Bloods: FBE, UEC, toxicology screen (blood/urine), metabolic screen (amino acids, lactate, pyruviate, ammonia, pH, ketones) Other: LP, urine catecholamines for neuroblastoma (VMA/HVA) with chest/abdo imaging
28
Clinical features of Friedreich's Ataxia
Ataxia, pes cavus, hammer toes, kyphoscoliosis, sensorineural hearing loss, HOCM
29
Clinical features of ataxia telangiectasia
Telangiectasia of bulbar, pinnae, nares, flexures Impaired cognition Ear/lung infection Clubbing Leukaemia/lymphoma Gonadal atrophy
30
Causes of cerebellar ataxia
Chemical: EtOH, phenytoin, CBZ, lead Hypoxic/vascular: CP, cerebellar CVA/bleed/AVM Infection: abscess, meningitis, encephalitis Neoplastic: cerebellar, posterior fossa (medulloblastoma, astrocytoma), neuroblastoma Physical: trauma, structural (Dandy-Walker, Chiari malformation, agenesis of cerebellar vermis), raised ICP Inflammatory: acute cerebellitis, Miller-Fisher variant of GBS (ataxia, ophthalmoplegia, areflexia) Genetic: AT, FA, Angelman's, Bardet-Biedl Endocrine/metabolic: leukodystrophies, Wilson's, lysosomal storage, peroxisomal Nutritional: vitamin E deficiency
31
Causes of ataxia from posterior column loss
Subacute combined degeneration of the cord - B12 deficiency (also get peripheral neuropathy, absent ankle reflexes, doral column loss, atrophy, dementia) Diabetes Hypothyroidism Tabes dorsalis (untreated syphilis)
32
Causes of peripheral neuropathy
DAM IT BICH Drugs: isoniazid, vincristine, phenytoin, nitrofurantoin, cisplatin, heavy metals, amiodarone Alcohol Metabolic: diabetes, CRF, neurodegenerative Infective: GBS Tumour: lymphoma, leukaemia B12 deficiency Idiopathic Connective tissue disease: SLE, PAN Hereditary: HSMN
33
Causes of hemiplegia
SCIT Systemic: coagulopathies (Factor V Leiden, SLE, ALL), sickle cell, NF-1 Cardiac: hypertension, cyanotic congenital heart (< 2 years - usually cerebral thrombosis, 2 years cerebral abscess), SBE, vessel abnormalities (cerebral AVMs, Sturge Webeter) Infective: HSV encephalitis, bacterial meningitis, cerebral abscess Traumatic: MVA, NAI
34
Signs of spinal cord involvement in hemiplegia e.g. Brown Sequard, hemicord syndrome
Ipsilateral arm involvement if cord level high enough Sensory changes: Ipsilateral light touch and proprioception Contralateral pain and temperature
35
Signs of brainstem involvement in hemiplegia
Ipsilateral arm involvement Contralateral face involvement May have cerebellar signs Brainstem signs depending on level: midbrain (CN III/IV), pons (V, VI, VII, VIII), medulla (IX, X, XI, XII)
36
Signs of internal capsule involvement in hemiplegia
Ipsilateral arm involvement Ipsilateral face involvement Absence of cortical signs
37
Signs of cortex involvement in hemiplegia
Ipsilateral arm involvement Ipsilateral face involvement Cortical signs: hemianopia, visual field changes, dysphasia
38
Causes of seizures
Idiopathic Inherited (PWS, T21, TS, NF-1, Sturge Weber) Acquired: structural/space occupying, infective (post meningitis/encephalitis), immune (SLE, vasculitis), metabolic, endocrine (low sugar/electrolytes)
39
Complications of seizures and medications
Seizures: developmental delay, aspiration Medications: drowsiness, weight gain, gum hypertrophy, rash, cytopaenias, nausea and vomiting
40
General causes of macrocephaly
Large bones - bony disorders Large brain - megalencephaly Large ventricles/fluid - hydrocephalus
41
Bony disorders causing macrocephaly
Achondroplasia Rickets Osteogenesis imperfecta Chronic haemolytic anaemias
42
Causes of megalencephaly
Generalised enlargement: Sotos, Neurocutaneous (NF, TS, Klippel-Trenauney-Weber, Sturge-Weber), Metabolic Localised enlargement: tumours (glioma, ependymoma), abscess, subdural haematoma
43
Causes of hydrocephalus
Obstructive: aqueductal stenosis and gliosis (secondary to neonatal meningitis, TORCH infections, haemorrhage), Vein of Galen malformation, posterior fossa malformations (Dandy-Walker, Arnold-Chiari, tumours) Non-obstructive: reduced absorption (subarachnoid haemorrhage, leukaemic infiltrates, infections/meningitis), increased production (very rare)
44
Closure of sagittal suture
Dolichocephaly/scaphocephaly Long and boat shaped Increased AP diameter Decreased biparietal diameter Normal intellect and neuro
45
Closure of coronal suture
Brachycephaly Widened biparietal diameter and high vault Decreased AP diameter Flat and short Eye signs - proptosis
46
Closure of unilateral lamboid/coronal suture
Plagiocephaly Skewed shape Normal intellect and neuro
47
Closure of metopic suture
Trigonocephaly Mid-forehead ridging Pointed narrow appearance to forehead Hypotelorism, colobomata, intellectual impairment and midline defects e.g. cleft
48
>4 sutures fused
Oxycephaly, turricephaly, acrocephaly High, narrow, tower-shaped skull Can cause significant neurological sequelae - raised ICP
49
Investigations for microcephaly
Imaging: skull X-ray, CT/MRI Bloods: TORCH serology, karyotype, NST, TSH, metabolic studies Urine CMV CSF: TORCH
50
Signs of Horner's syndrome
Partial ptosis Miosis ANhydrosis
51
Causes of Horner's syndrome
Brainstem: vascular, tumour, syringobulbia/myelia (this can be bilateral) Neck: thyroid mass, trauma Carotid: aneurysm, dissection Lung mass Post cardiac surgery
52
Approximate visual acuities in normal child
6 months - 6/30 18 months - 6/9 24 months - 6/6
53
Causes of ptosis
Neurogenic: CN 3 palsy (ptosis and large pupil), Horner's (ptosis plus small pupil - most commonly post cardiac surgery) Myogenic: myasthenia (fatiguability), myotonic dystrophy, congenital ptosis
54
Ages and stages of vision in babies
Neonates: turn head to diffuse light source 6 weeks: face or large coloured object 3 months: eyes converge for finger play 4 months: follows objects through 180 degrees, turning their head 5 months: reach for toy and regard small raisin on table 6 months: move eyes together in all directions 9 months: able to pick up raisin, plays peek a boo
55
Causes of absent light reflex but intact accommodation
Midbrain lesion - Argyll Robertson pupil Ciliary ganglion lesion - Adie's pupil Parinaud syndrome Bilateral afferent pupil deficits
56
Causes of absent convergence but intact light reflex
Cortical lesion (cortical blindness)
57
Small pupils
Horner's Argyll Robertson (neurosyphilis) Pontine lesion Narcotics
58
Dilated pupils
Drugs Third nerve lesion Adie's syndrome Trauma Surgical: lens transplant, iridectomy IFM (iritis) Congenital
59
Adie pupil
Efferent parasympathetic pathway affected Dilated pupil Decreased light reaction Slow accommodation No ptosis Often young women Decreased reflexes
60
Argyll Robertson pupil
Lesion in midbrain - syphilis Constricted pupil Decreased light reaction Normal accommodation No ptosis
61
Horner's pupil
Sympathetic chain lesion Constricted pupil Normal light and accommodation reaction Ptosis present
62
Ptosis with normal pupils
NMJ: myasthenia, botulism Muscle: MD, FSHD, thyrotoxic myopathy Congenitl
63
Ptosis with small pupils
Nerve: Horner's, syphilis
64
Ptosis with large pupils
III nerve palsy
65
Causes of cataracts
Hereditary: myotonic dystrophy Acquired: irradiation, trauma, metabolic (e.g. steroids, diabetes)
66
Causes of papilloedema
Space occupying lesion Hydrocephalus Benign intracranial hypertension Hypertension Central retinal vein thrombosis Central venous sinus thrombosis
67
Papilloedema characteristics
Both eyes Swollen optic disc Normal acuity (early) Normal colour vision Large blind spot Peripheral construction
68
Papillitis (optic neuritis) characteristics
Usually one eye and sudden Swollen optic disc Poor acuity Decreased colour vision (especially red) Central scotoma Pain on eye movements
69
Causes of optic neuropathy
TIIME Toxic: ethambutol, chloroquine Immune: MS Infective Endocrine: diabetes Metabolic: decreased B12
70
Visual field defect for pituitary defect
Bitemporal hemianopia
71
Visual field defect for optic tract to occipital cortex defect
Homonymous hemianopia
72
Visual field defect for temporal lobe defect
Superior quadrantanopia
73
Visual field defect for parietal lobe defect
Inferior quadrantanopia
74
Visual field defect for optic nerve defect
Complete blindness of ipsilateral eye
75
Visual field defect for defect in midline chiasmal region
Bitemporal nasal hemianopia
76
CN III palsy features
Complete ptosis (partial if incomplete lesion) Eye down and out Dilated pupil - not reactive to light and accommodation Exclude IV nerve if III palsy present
77
Causes of CN III palsy
UMN: vascular, tumour, demyelination LMN: compression (nasopharyngeal carcinoma, basal meningitis, orbital lesions), infarction (DM)
78
CN VI palsy features
Failure of lateral movement
79
Causes of CN VI palsy
UMN: vascular, tumour, demyelination LMN: trauma, raised ICP
80
Causes of jerky nystagmus
Horizontal: vestibular, cerebellar (both to side. of lesion), internuclear ophthalmoplegia, toxins Vertical: brainstem/cerebellar lesion (up - lesion in floor of 4th ventricle, down - lesion in foramen magnum), drugs (EtOH, phenytoin)
81
Causes of pendular nystagmus
Retinal - decreased macular vision e.g. oculocutaneous albinism Congenital nystagmus
82
Features and causes of supranuclear palsy
Both eyes affected Unequal pupils No diplopia Causes: pinealoma, MS, vascular lesions
83
Causes of exaggerated jaw jerk reflex
UMN lesion Pseudobulbar palsy
84
CN V palsy causes
Central: vascular, tumour, demyelination Peripheral - posterior fossa: tumour, chronic meningitis - petrous temporal bone: acoustic neuroma, meningioma, middle fossa fracture - cavernous sinus: thrombosis, tumour
85
Cause of loss of sensation in all 3 divisions of CN V
Ganglion or sensory root lesion
86
Cause of total loss of sensation in 1 division of CN V
Post-ganglion lesion
87
Loss of pain but intact sensation of CN V
Brainstem or upper cord lesion
88
Loss of touch but intact pain of CN V
Pons/nucleus lesion
89
Causes of bilateral facial weakness
NMJ: myasthenia Muscle Nerve: GBS, bilateral parotid disease, mononeuritis multiplex
90
Causes of CN VII palsy
UMN: tumour, vascular LMN: Pontine (anterior horn cell) - vascular, tumour, MS Posterior fossa - acoustic neuroma, meningioma Petrous temporal bone - Bell's palsy, Ramsey Hunt, fracture, otitis media Parotid - tumour, sarcoid
91
Weber's test: if sound localises to good ear
Sensorineural hearing loss
92
Weber's test: if sound localises to bad ear
Conductive hearing loss
93
Rinne's test positive: air conduction > bone conduction
Sensorineural hearing loss or normal
94
Rinne's test negative: bone > air
Conductive hearing loss
95
Causes of sensorineural deafness
Unilateral: Tumour e.g. acoustic neuroma Trauma e.g. fracture of petrous temporal bone Bilateral: Environmental exposure to noise Toxicity: gentamicin, frusemide Infection: congenital rubella Menière's disease
96
Causes of conductive deafness
Wax OM/effusion Otosclerosis Bony disease e.g. Paget's
97
Things that point toward lesion
V nerve --> jaw XII nerve --> tongue
98
Things that point away from lesion
X nerve --> uvula
99
Causes of facial weakness
Cortex and brainstem: Moebius, cerebral palsy, tumour, vascular insult, infection Posterior fossa: acoustic neuroma, meningioma, chronic meningitis Cranial nerve: GBS, Bell's, Ramsay Hunt, petrouts temporal bone fracture, parotic gland tumour, osteopetrosis NMJ: myasthenia gravis, infantile botulism Muscle: myotonic dystrophy, FSHD
100
Causes of bilateral facial weakness + ptosis + ophthalmoplegia
Moebius, myotonic dystrophy, myasthenia gravis, infantile botulism
101
Causes of bilateral facial weakness alone
FSHD, GBS (bilateral LMN CN7), CP (bilateral UMN CN7)
102
Causes of unilateral CN7 palsy
UMN (spares the forehead): cortical vascular lesion or tumours LMN: Pontine lesions: tumours, vascular, demyelination Posterior fossa: acoustic neuroma, meningioma, chronic meningitis Petrous temporal bone: Bell's, fracture, Ramsay Hunt, otitis media Parotid gland: tumour
103
Features of pseudobulbar palsy (UMN lesion of IX, X, XII)
Increased gag reflex Spastic movements of tongue Spastic dysarthria Labile emotions Bilateral limb UMN signs
104
Features of bulbar palsy (LMN lesion of IX, X, XII)
Decreased gag reflex Wasted, fasciculations of tongue Nasal speech Normal emotions Signs of underlying cause

RACP Clinical Short (11 decks)

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