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Questions and Answers
Which symptom is associated with Fabry's Disease?
Which symptom is associated with Fabry's Disease?
Romberg's sign requires the presence of a visual stimulus for accurate assessment.
Romberg's sign requires the presence of a visual stimulus for accurate assessment.
False
What manifestation occurs in Fabry's disease related to the autonomic nervous system?
What manifestation occurs in Fabry's disease related to the autonomic nervous system?
Severe ANS symptoms
The improper posture observed during the wash basin sign indicates a problem with _____ without a visual component.
The improper posture observed during the wash basin sign indicates a problem with _____ without a visual component.
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Match the following conditions with their corresponding neuropathy symptoms:
Match the following conditions with their corresponding neuropathy symptoms:
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What is the preferred treatment for Miller Fisher Syndrome?
What is the preferred treatment for Miller Fisher Syndrome?
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Steroids are commonly used in the treatment of CIDP.
Steroids are commonly used in the treatment of CIDP.
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What are the main symptoms associated with Miller Fisher Syndrome?
What are the main symptoms associated with Miller Fisher Syndrome?
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In AIDP, approximately ___% of patients have preceding infections.
In AIDP, approximately ___% of patients have preceding infections.
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Match the following features with either CIDP or AIDP:
Match the following features with either CIDP or AIDP:
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What is the most common subtype of Guillain-Barré Syndrome?
What is the most common subtype of Guillain-Barré Syndrome?
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The prognosis for Acute motor sensory axonal neuropathy (AMSAN) is considered good.
The prognosis for Acute motor sensory axonal neuropathy (AMSAN) is considered good.
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What are the three clinical features of Miller Fisher syndrome (MFS)?
What are the three clinical features of Miller Fisher syndrome (MFS)?
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In Guillain-Barré Syndrome, antibodies bind to myelin, leading to __________ degeneration.
In Guillain-Barré Syndrome, antibodies bind to myelin, leading to __________ degeneration.
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Match the following GBS subtypes with their associated features:
Match the following GBS subtypes with their associated features:
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Which of the following are common inciting factors associated with GBS?
Which of the following are common inciting factors associated with GBS?
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Recovery from GBS symptoms typically starts 4-6 weeks after the onset of symptoms.
Recovery from GBS symptoms typically starts 4-6 weeks after the onset of symptoms.
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What is the finding commonly seen in lumbar puncture for GBS cases?
What is the finding commonly seen in lumbar puncture for GBS cases?
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The most commonly involved cranial nerve in GBS is cranial nerve number ______.
The most commonly involved cranial nerve in GBS is cranial nerve number ______.
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Match the following features with their corresponding diagnostic criteria:
Match the following features with their corresponding diagnostic criteria:
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Which of the following is a characteristic of CIDP?
Which of the following is a characteristic of CIDP?
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AIDP primarily presents with significant sensory involvement.
AIDP primarily presents with significant sensory involvement.
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What are common large fiber sensory symptoms associated with CIDP?
What are common large fiber sensory symptoms associated with CIDP?
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The syndrome associated with increased VEGF and polyneuropathy is known as __________.
The syndrome associated with increased VEGF and polyneuropathy is known as __________.
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Match the following conditions with their characteristics:
Match the following conditions with their characteristics:
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What is the primary genetic cause of Familial Amyloid Polyneuropathy?
What is the primary genetic cause of Familial Amyloid Polyneuropathy?
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Acute Intermittent Porphyria is more common in males than females.
Acute Intermittent Porphyria is more common in males than females.
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What is the most frequent gastrointestinal symptom associated with Porphyric neuropathy?
What is the most frequent gastrointestinal symptom associated with Porphyric neuropathy?
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Familial Amyloid Polyneuropathy primarily involves the _________ nervous system.
Familial Amyloid Polyneuropathy primarily involves the _________ nervous system.
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Match the following features with their corresponding types of neuropathies:
Match the following features with their corresponding types of neuropathies:
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What is the most common foot deformity associated with CMT-1?
What is the most common foot deformity associated with CMT-1?
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CMT-1 is always associated with sensory symptoms.
CMT-1 is always associated with sensory symptoms.
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What is a characteristic feature of motor conduction in CMT-1?
What is a characteristic feature of motor conduction in CMT-1?
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In CMT-1, the ankle jerk reflex is _____ universally.
In CMT-1, the ankle jerk reflex is _____ universally.
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Match the following symptoms/features with their corresponding descriptions:
Match the following symptoms/features with their corresponding descriptions:
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Which type of inherited neuropathy is characterized by demyelination?
Which type of inherited neuropathy is characterized by demyelination?
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Acute neuropathies are predominantly axonal in nature.
Acute neuropathies are predominantly axonal in nature.
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What mutation is associated with familial amyloid polyneuropathy (FAP)?
What mutation is associated with familial amyloid polyneuropathy (FAP)?
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Charcot-Marie-Tooth disease (CMT) primarily involves _____ and sensory nerves.
Charcot-Marie-Tooth disease (CMT) primarily involves _____ and sensory nerves.
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Match the following characteristics to either CMT-1 or CMT-2:
Match the following characteristics to either CMT-1 or CMT-2:
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Which of the following is a feature of Tangier's disease?
Which of the following is a feature of Tangier's disease?
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In Refsum disease, the primary defect is in the enzyme responsible for β oxidation.
In Refsum disease, the primary defect is in the enzyme responsible for β oxidation.
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What is the primary clinical feature of Refsum disease?
What is the primary clinical feature of Refsum disease?
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The condition characterized by predominantly motor involvement and may cause flaccid quadriparesis is known as __________.
The condition characterized by predominantly motor involvement and may cause flaccid quadriparesis is known as __________.
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Match the following conditions to their respective features:
Match the following conditions to their respective features:
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What percentage of patients with Guillain-Barre Syndrome may experience permanent motor weakness after recovery?
What percentage of patients with Guillain-Barre Syndrome may experience permanent motor weakness after recovery?
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Guillain-Barre Syndrome typically has a slowly progressive course.
Guillain-Barre Syndrome typically has a slowly progressive course.
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Name one bad prognostic factor associated with Guillain-Barre Syndrome.
Name one bad prognostic factor associated with Guillain-Barre Syndrome.
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The term __________ refers to paralysis that begins in the lower limbs and ascends towards the upper limbs in Guillain-Barre Syndrome.
The term __________ refers to paralysis that begins in the lower limbs and ascends towards the upper limbs in Guillain-Barre Syndrome.
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Match the following complications of Guillain-Barre Syndrome with their descriptions:
Match the following complications of Guillain-Barre Syndrome with their descriptions:
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What is the survival rate of Guillain-Barre Syndrome with early intervention?
What is the survival rate of Guillain-Barre Syndrome with early intervention?
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Cranial nerve involvement is common in patients with Guillain-Barre Syndrome, leading to severe complications.
Cranial nerve involvement is common in patients with Guillain-Barre Syndrome, leading to severe complications.
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What type of sensory loss is observed in Guillain-Barre Syndrome?
What type of sensory loss is observed in Guillain-Barre Syndrome?
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Study Notes
Inherited Neuropathies
- Romberg's sign components: semicircular canal, vestibulo-cerebellar fibers, visual stimulus, proprioception
- Wash basin sign: improper posture, no visual component
- Posterior column tract disorder: no compensation leads to falling
Fabry's Disease
- Painful small fiber neuropathy: angiokeratoma, painful acroparesthesia
- Axonal neuropathy: digital paresthesia, severe ANS symptoms
- Renal manifestation
Autonomic Neuropathies
- Observed in: diabetes, amyloidosis, porphyria, Fabry, vincristine
Guillain-Barré Syndrome (GBS)
- Treatment: IVIg (0.4 gm/kg x 5 days), PLEX therapy (one filter: 5 cycles, preferred for ANS manifestations)
- PLEX therapy: each cycle removes 1.5 times plasma volume, replace with 50% NS and 50% FFP
- No role for steroids
Miller Fisher Syndrome (MFS)
- Features: ophthalmoplegia, ataxia, areflexia, anti-GQ Ib antibody positive, brainstem encephalitis, hyperreflexia
- Treatment: PLEX
Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) vs Acute Inflammatory Demyelinating Polyneuropathy (AIDP)
- CIDP: subacute/chronic, not an emergency
- AIDP: acute, emergency
- CIDP: 30% preceding infection, idiopathic or secondary to myeloma/ POEMS, HIV/SLE/Hodgkins/ DM/IBD
- AIDP: 70% preceding infection, idiopathic, infections, vaccination associated molecular mimicry
- CIDP: absent ANS symptoms, 10% cranial nerve involvement, no precise point of onset, no ventilator requirement, nil mortality, steroid (DOC), PLEX (resistant cases), IVIg (pure motor CIDP)
- AIDP: present ANS symptoms, 30% cranial nerve involvement, (+) precise point of onset, ventilator requirement in bad prognosis, 10-15% mortality, steroids not used, IVIg/PLEX
GBS Subtypes
- Acute inflammatory demyelinating polyneuropathy (AIDP): anti-GM1 antibodies, demyelinating, best prognosis of all types
- Acute motor axonal neuropathy (AMAN): children & young adults, anti-GD1a antibodies, axonal
- Acute motor sensory axonal neuropathy (AMSAN): mostly adults, axonal, poor prognosis
- Miller Fisher syndrome (MFS): clinical triad: ophthalmoplegia, ataxia, areflexia, anti-GQ1b antibodies, axonal or demyelinating, poor prognosis
GBS Additional Notes
- AIDP: most common, mean age of presentation: 40 years, males > females
- AIDP pathophysiology: antibodies bind to myelin, activate complement, leading to macrophage invasion and vesicular degeneration
- CIDP: chronic (>8 weeks)
- Acute GBS: less than 4 weeks
Neurological Condition: 634
- Inciting Factors: gastroenteritis/URTI (past 4 weeks), present in 60-70% of GBS cases, associated infections: C.jejuni, CMV, EBV, mycoplasma, Hep A/B, HIV, vaccination associated, molecular mimicry
- Associated infections: C.jejuni, CMV, EBV, mycoplasma, Hep A/B, HIV
- IPSID (Immuno-proliferative small intestinal disease/lymphoma), C.jejuni, GBS
- Essential Features for Diagnosis: progressive weakness in both arms and legs (legs → arms), areflexia
- Features Strongly Supporting Diagnosis: progression of symptoms over days up to 4 weeks, relative symmetry of symptoms, mild sensory symptoms/signs, cranial nerve involvement (any cranial nerve can be affected)
- More Specific Features: VII nerve palsy more common than III nerve palsy, bilateral lower motor neuron (B/L LMN) involvement of VII nerve palsy may be indicative of sarcoidosis, recovery starts 2-4 weeks after the onset of symptoms, autonomic dysfunction can be observed, absence of fever at the onset of symptoms
- Lumbar Puncture Findings: 90% of cases: albuminocytological dissociation (not detected within 7 days for GBS variants), 5% of cases: pleocytosis of 10-20 cells, findings usually present for only 1 month
- Nerve Conduction Study (NCS) Findings: latency, prolongation, conduction block, decreased conduction velocity, absent or prolonged F-wave and H reflex, temporal dispersion
- Features Excluding Diagnosis: botulism, myasthenia gravis, diphtheria, abnormal porphyrin metabolism, pure sensory syndrome (without weakness)
CIDP
- Prominent sensory involvement: large fiber symptoms, distal → proximal
- Motor symptoms: gradually progressive, distal → proximal, lower limb predominant
AIDP
- Predominantly motor
- Minimal sensory involvement
CIDP Associated with
- Relapsing neuropathy
- Nerve thickening
Large Fiber Sensory Symptoms
- Tingling
- Numbness
- Dysesthesia
- Paraesthesia
- Cotton wool sensation
- Sensory ataxia
Nerve Thickening Also Seen In
- Leprosy
- Charcot-Marie-Tooth disease
POEMS Syndrome
- Characteristic features: increased VEGF, light chain myeloma, polyneuropathy (P) refers to CIDP, osteosclerotic lesions
- Associated syndrome: Castleman syndrome
- Refractory to therapy
MMNCB (Multifocal Motor Neuropathy with Conduction Block)
- Pure motor neuropathy with associated atrophy
- Lasting for years
- Asymmetric presentation
- Upper limb > lower limb involvement
- Diagnosis: demyelination in NCS
- Antibody: anti-GM, antibody (D/d: GBS)
- Other conditions with pure motor neuropathy: lead poisoning, dapsone toxicity
Familial Amyloid Polyneuropathy
- Caused by mutant transthyretin
- Axonal sensory-motor polyneuropathy
- ANS involvement (+)
- Painful neuropathy
- Large + small fiber symptoms
Porphyric Neuropathy Manifestations
- Neurovisceral: acute intermittent porphyria
- Features: autosomal dominant, ANS (predominant) + PNS + CNS involvement, acute onset, females > males, age: 3rd – 4th decade, precipitating factors: menstruation
- Cutaneous (less common): variegate porphyria, hereditary coproporphyria, blisters, hyperpigmentation, hypertrichosis, increased skin fragility
- Clinical Presentation (GIT): acute abdominal pain (most frequent symptoms), generalized/localized, colicky/non-colicky, constipation, nausea
- Neuropathy: acute axonal, proximal involvement (predominant), sensory involvement (rare): glove & stocking pattern, bathing suite pattern, symmetrical > asymmetrical (rare), upper limb > lower limb
CMT-4
- AKA Dejerine sottas disease
- AD/AR
- Congenital hypomyelinating neuropathy
CMT-1 Features
- Long, slow progressive history (10-30 years)
- Foot deformity: pes cavus (most common presentation), hammer toes
- Palpable, enlarged hypertrophic nerves
- Family history (+)
- Mild kyphosis (in 1/10 cases)
CMT-1 Sensory Features
- No sensory symptoms
- Large-fiber sensory signs (+): proprioception, fine touch, vibration
CMT-1 Motor Features
- Distal > Proximal
- Lower limb predominance
- Non-debilitating weakness
- Slow motor conduction velocity
- Normal amplitude, prolonged distal latency, presence of temporal dispersion
- Distal weakness → wasting → inverted champagne leg
CMT-1 Reflexes
- Generalized hypo/areflexia
- Ankle jerk absent universally
Nerve Thickening Also Seen In
- Leprosy
- Chronic inflammatory demyelinating polyneuropathy
- Charcot-Marie-tooth disease
Inherited Neuropathies Types
- Demyelinating neuropathy: Charcot-Marie-Tooth disease (CMT), Refsum's disease
- Axonal neuropathy: Familial amyloid polyneuropathy (FAP), porphyria, Tangier's disease
- Acute neuropathies: demyelinating (predominantly), e.g., AIDP, GBS
- Exception: acute intermittent porphyria - axonal
Charcot Marie Tooth Disease
- Combined motor and sensory involvement
- HSAN: Hereditary Sensory Autonomic Neuropathy
- Variant of CMTD
- Presence of autonomic features
CMT Types
- CMT-1 (Autosomal dominant (AD)): autosomal dominant (AD), hereditary moto-sensory neuropathy (HMSN), more common, demyelinating disease, onion bulb formation in nerve biopsy, involvement of upper limb, nerve thickening (+), early onset, no deformities, no areflexia
- CMT-2: less common, axonal disease
- CMT-2: no other features
Guillain-Barré Syndrome (GBS) Clinical Presentation
- Sensory symptoms: bilateral tingling and numbness of lower limbs, rubbery legs
- Mild transient bowel and bladder dysfunction
- Motor symptoms: bilateral lower limb weakness
GBS Examination Findings
- HMF: normal
- Cranial nerves: normal
- Motor (UL): normal
- Bilateral atonic areflexic paraparesis (proximal + distal) of lower limbs: lack of muscle tone and reflexes, with weakness affecting both legs in the area closest to the body (proximal) and further away from the body (distal)
- Large fiber (Aα) sensory loss: sensory loss that affects large nerve fibres
GBS Progression of Disease
- Rapidly progressive: the disease progresses quickly
- 224 hours since incident: the timeline since the onset of the disease
- Areflexix ascending paralysis: a type of paralysis that begins in the lower limbs and progressively ascends to the upper limbs
- Cranial nerve involvement: involvement of cranial nerves
- Brainstem involvement: involvement of the brainstem
- Respiratory centre affected: respiratory involvement
- Requires ventilation: the need for assisted breathing (lower limb/upper limb)
- 30% affected (4-15% mortality): the 30% figure represents the percentage of patients affected and the mortality rate ranges from 4-15%
GBS Prognosis
- 80% recover (of which 5-10% have persistent motor weakness): recovery is common, but for a minority it will be permanent
- 30% Lower cranial nerve & brainstem involvement: dysphagia/dysarthria - aspiration -> death (involvement of cranial nerves and brainstem can lead to severe complications, such as swallowing problems and speech disorders, which can eventually lead to death if not treated)
- Survival rate: 85-90% (early intervention): early treatment improves the likelihood of successful recovery
GBS Bad Prognostic Factors (ANS Manifestations)
- Labile HTN (extreme BP fluctuations) -> PRES (Posterior reversible encephalopathy syndrome)
- Postural hypotension
- Arrhythmias
- Deep aching pain in affected muscles
D/d for Neuropathy with PRES
- Porphyrias
Important Considerations
- The table is an illustration of the effects of Guillain-Barré syndrome, not a complete medical record
- The information provided is for educational purposes only and does not constitute medical advice. Always consult a medical professional for any health concerns
Neurological Condition 630: ANS Features
- Orthostatic hypotension, erectile dysfunction, urinary incontinence
- Persistent tachycardia > bradycardia
- Labile hypertension → hypertensive encephalopathy: PRES
Neurological Condition 630: CNS Features
- Mild neuropsychiatric symptoms
- Seizure
- Neuropathy: motor > sensory
- Facial, bulbar weakness → flaccid quadriparesis with respiratory involvement (GBS-like)
- Rapidly progressive muscle wasting: involvement of anterior horn cell
Others
- SIADH → Hyponatremia
Motor Neuropathy
- Predominantly motor involvement: GBS, diphtheria, porphyria
- Lead, dapsone, multifocal motor neuropathy with conduction block (MMNCB)
Tangier's Disease
- Autosomal recessive
- Defect in ATP binding cascade protein → ↓ HDL
- Orange tonsil
- Axonal
- Asymmetric mononeuropathy
Refsum Disease
- Pathology: demyelinating disease
- Defect in phytanic oxidase enzyme → α oxidation defect
Refsum Disease: Clinical Features
- Retinitis pigmentosa
Refsum Disease: Triad
- Cerebellar ataxia: Romberg sign +ve
- Peripheral neuropathy
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Description
Test your knowledge on various neuropathies, including Fabry's Disease, Miller Fisher Syndrome, and Guillain-Barré Syndrome. This quiz covers symptoms, treatments, and clinical features associated with these conditions. Challenge yourself with matching questions and clinical case scenarios.
