Tag Archives: PNS


Clinical features (neurological porphyrias): General features: Acute ascending paralysis with areflexia, affecting VII nerve as well Sensory loss may occur “swimming trunk distribution” Autonomic neuropathy: tachycardia and orthostatic hypotension Confusion, anxiety Urine becomes dark on exposure to sunlight. Subtypes: Acute forms: Cause neurological disease and raised ALA Acute intermittent porphyria AIP: no cutaneous rash Variegate … Continue reading Porphyria

Adrenoleukodystrophy and Adrenomyeloneuropathy

Diagnosis: Very long chain fatty acids VLCFAs: raised C26:0 level, raised C26:0/C22:0 ratio, raised C24:0/C20:0 ratio. This is diagnostic. Genetic tests usually follow. A type of peroxysomal disease. A type of leukodystrophy a.k.a. dysmyelination Genetics: X-linked or Autosomal recessive (neonatal) ALD gene a.k.a. X-linked adrenoleukodystrophy gene chr. Xq28, encoding perioxysomal ATP binding cassette half-transporter protein … Continue reading Adrenoleukodystrophy and Adrenomyeloneuropathy

Krabbe Disease (Globoid Cell Leukodystrophy)

Synonyms: a.k.a. galactocerebroside b-galactosidase deficiency Diagnosis: Assay of beta galatosylcerebrosidase activity is diagnostic. A type of leukodystrophy. A type of dysmyelination. Pathogenesis: Oligodendrocyte apoptosis and gliosis Clinical features: Clinical: Progressive cognitive decline, seizures, and cortical blindness. Peripheral weakness. Peripheral neuropathy demyelinating pattern, up to 60% of patients, may be asymmetric, Genetics: Autosomal recessive Findings on … Continue reading Krabbe Disease (Globoid Cell Leukodystrophy)

Metachromatic Leukodystrophy MLD

Synonyms: a.k.a. arylsulfatase A deficiency Diagnosis: A type of leukodystrophy a.k.a. dysmyelination Enzyme activity: Reduced arylsufatase A deficiency Test leukocytes Urine: sulfatide accumulation Clinical features: Peripheral neuropathy Findings on investigations: Electrophysiology: Demyelinating sensorimotor Peripheral neuropathy Imaging: Symmetrical demyelination, corpus callosum, centrum semiovale, cerebellum, spares the cortical U fibres. Multifocal frontal lobe lesions can occur. Atrophy, … Continue reading Metachromatic Leukodystrophy MLD


Synonyms: Leucodystrophy, leukodystrophies Introduction: This is a group of various disorders of abnormal white matter myelination. They are often referred to as dysmyelinating disorders. Types: Adrenoleukodystrophy and adrenomyeloneuropathy Metachromatic leukodystrophy MLD a.k.a. arylsulfatase A deficiency Krabbe disease (Globoid Cell Leukodystrophy) a.k.a. galactocerebroside b-galactosidase deficiency Alexander disease Canavan disease a.k.a. spongiform degeneration a.k.a. N-acetylaspartatoacylase deficiency Sudanophilic … Continue reading Leukodystrophy

Mitochondrial Disorders

There are many diseases that are included in mitochondrial disorders. They often share common features. Synonyms: a.k.a. mitochondrial cytopathies, mitochondrial neurological disorders Subtypes of mitochondrial disorders: Alper syndrome a.k.a. Alper-Huttenlocher syndrome a.k.a. progressive infantile poliodystrophy Kearns-Sayre Syndrome KSS Mitochondrial encephalomyopathy lactic acidosis and stroke MELAS Myoclonic epilepsy and ragged red fibres MERRF Mitochondrial neurogastrointestinal encephalomyopathy … Continue reading Mitochondrial Disorders

Denervation Atrophy

Diagnosis: Muscle biopsy: Fibre size variation with angulated fibres (rounded fibres in spinal muscular atrophy) Grouped atrophy, bags of nuclei Target fibres Pseudomyopathic pattern Fibre distribution (ATPases): fibre type grouping, grouped atrophy of type 2 and type 1 fibres NADH: target fibres, central clearing Related articles: Nerve diseases, neuromuscular disease patterns, radiculopathy, polyradiculopathy, plexopathy (brachial … Continue reading Denervation Atrophy

Idiopathic Cramps

Diagnosis: Cramps occurring without physical examination findings of neurological disease and with normal electrolytes and calcium Clinical features: Cramps occurring without physical examination findings of neurological disease Treatment: Day time cramps: Carbamazepine CBZ P.O. Phenytoin PHT P.O. Nocturnal cramps: Carbamazepine CBZ, Phenytoin PHT, diazepam Note: Quinine P.O. nocte works however risks out-way benefits

Paroxysmal Extreme Pain Disorder PEPD

Synonyms: formerly familial rectal pain syndrome Diagnosis: A type of channelopathy Genetics: Autosomal dominant SCN9A gene. Protein= Nav1.7 voltage gated sodium channel alpha subunit Clinical features: Begins in infancy Autonomic: syncope, bradycardia, skin colour changes (flushing, or harlequin), Tonic nonepileptic seizures Paroxysmal pain: rectal, periorbital or jaw Treatment: Carbamazepine CBZ P.O. Related articles: Neuromuscular disease … Continue reading Paroxysmal Extreme Pain Disorder PEPD

Morvan's fibrillary chorea, Morvan's syndrome, neuromyotonia NMT, and Isaac syndrome

Synonyms: Morvan’s ‘fibrillary chorea’ a.k.a. Morvan’s syndrome, neuromyotonia NMT a.k.a. Isaac syndrome: Both conditions have been described with anti-voltage-gated potassium channel antibodies anti-VGKC (Kv1) VGKC is positive in patients with limbic encephalitis, Morovan’s syndrome. These have different targets. Caspr2: contactin-associated protein-antibody-2, a subtype of VGKC found in Morovan’s syndrome Lgi1: leucine-rich, glioma inactivated 1 protein, … Continue reading Morvan's fibrillary chorea, Morvan's syndrome, neuromyotonia NMT, and Isaac syndrome

Pure autonomic failure (PAF)

Synonyms: a.k.a. Bradbury-Eggleston syndrome a.k.a. idiopathic orthostatic hypotension Diagnosis: A type of alpha-synucleinopathy Clinical features: Middle-late life, Gradual onset and progression of orthostatic hypotension +other features of autonomic failure e.g. Nocturia and erectile dysfunction Coat hanger pain occurs: shoulder and neck ache on standing Without other neurologic signs Findings on investigations: Noradrenaline: After supine for … Continue reading Pure autonomic failure (PAF)

Autoimmune Autonomic Ganglionopathy AAG

Synonyms: a.k.a. Pandysautonomia a.k.a. idiopathic autonomic neuropathy a.k.a. acute panautonomic neuropathy a.k.a. autoimmune autonomic neuropathy, rare: Diagnosis: Clinical features +Anti-ganglionic nAChR antibodies +supported by electrodiagnostic tests Clinical features: Failure of sympathetic (orthostatic hypotension, anhidrosis) and parasympathetic (dry eyes, dry mouth, gastroparesis, constipation, urinary retention) nervous system with relative sparing of somatic nerves Preceded by viral … Continue reading Autoimmune Autonomic Ganglionopathy AAG

Chronic Idiopathic Axonal Polyneuropathy CIAP

Diagnosis: Diagnosis by exclusion. Clinical features: Chronic, sensory or sensorimotor polyneuropathy Findings on investigations: NCS/EMG: Axonal polyneuropathy No evidence of demyelination Related articles: Approach to weakness, approach to sensory deficits, neuromuscular disease patterns, polyneuropathy,

Idiopathic Sensory Ganglionopathy

Synonyms: a.k.a. chronic ataxic neuropathy Diagnosis: Clinical features +NCS/EMG findings +Exclusion of other causes: Sjogren syndrome, paraneoplastic syndrome, paraproteinemia, Refsum disease etc. Clinical features: Global sensory loss (especially proprioception), sensory ataxia (pseudoathetosis), normal power Exclusion of other causes: Sjogren syndrome, paraneoplastic syndrome, paraproteinemia, Refsum disease etc. Findings on investigations: +NCS +EMG: Axonal Sensory neuropathy (may … Continue reading Idiopathic Sensory Ganglionopathy

Hereditary sensory neuropathy HSN (Hereditary sensory autonomic polyneuropathy HSAN)

Synonyms: Hereditary sensory neuropathy HSN or Hereditary sensory autonomic polyneuropathy HSAN Diagnosis: Clinical +genetic testing Clinical features: All have sensory neuropathy without motor features HSN1 a.k.a. Denny-Brown neuropathy: Clinical features: Loss of pain and temperature sensation, ulceration of feet and hands, Charcot joints. No autonomic features Findings on investigations: NCS/EMG: axonal HSN2 a.k.a. congenital sensory … Continue reading Hereditary sensory neuropathy HSN (Hereditary sensory autonomic polyneuropathy HSAN)

Fabry Disease: alpha-galactosidase A deficiency

Synonyms: a.k.a. alpha-galactosidase A deficiency a.k.a. Angiokeratoma corporis diffusum Clinical features: Rash: Telangiectasia on lower trunk and upper legs Peripheral neuropathy: painful Stroke Cardiac and renal dysfunction Genetics: X-linked recessive Findings on investigations: Leukocyte alpha-galactosidase A: low CT: pulvinar hyperdensity (mineralization) MRI brain: Pulvinar sign T1 hyperintensity Other tests: Basic metabolic panel: creatinine: renal failure … Continue reading Fabry Disease: alpha-galactosidase A deficiency

Tangier disease: Familial alpha-lipoprotein deficiency

Synonyms: High density lipoprotein HDL deficiency, Clinical features: Enlarged orange tonsils Impaired pain and temperature sensation Findings on investigations: Lipid profile: low to absent HDL Related articles: Approach to weakness, approach to sensory deficits, neuromuscular disease patterns, polyneuropathy, Small fibre sensory neuropathy,

Sjogren Syndrome Neuropathy

Diagnosis: Clinical features of neuropathy plus diagnosis of Sjogren syndrome (by serology or biopsy) plus exclusion of other causes. Vasculitis may occur. Clinical features: Features of neuropathy: small fibre neuropathy, or sensory axonal polyneuropathy, facial palsy CN VII may occur, Findings on Investigations: NCS/EMG: Features of the underlying pattern: small fibre sensory neuropathy, or sensory … Continue reading Sjogren Syndrome Neuropathy

Coeliac Disease Neuropathy

Synonyms: a.k.a. gluten neuropathy Diagnosis: Diagnosis of Coeliac disease or serology positive for coeliac disease, plus clinical or electrodiagnostic neuropathy and exclusion of other causes Clinical features: Different patterns: sensorimotor neuropathy >mononeuropathy multiplex >motor neuropathy >small fibre neuropathy. Findings on investigations: +NCS/EMG: Axonal neuropathy pattern, different patterns (sensorimotor neuropathy >mononeuropathy multiplex >motor neuropathy >small fibre … Continue reading Coeliac Disease Neuropathy

Idiopathic Sensory Perineuritis

Diagnosis: Clinical features of polyneuropathy, mononeuropathy multiplex, biopsy findings of perineuritis and exclusion of secondary causes Clinical features: sensory patchy neuropathy, sensorimotor forms exist. Pathology, nerve biopsy: Perineurium: inflammatory lymphocytic infiltrate, thickening of perineurium Exclusion of other causes Treatment: Consider corticosteroids Related articles: Approach to weakness, approach to sensory deficits, neuromuscular disease patterns, polyneuropathy, Diabetic … Continue reading Idiopathic Sensory Perineuritis

Migrant sensory neuritis (Wartenberg Syndrome)

Synonyms: a.k.a. Wartenberg Syndrome: Clinical features: decreased sensation in individual cutaneous nerves. i.e. sensory mononeuropathy multiplex. Precipitated by stretching the limb and preceded by pain. Normal motor Findings on investigations: +NCS: axonal pattern in involved nerves Pathology, nerve biopsy: Endoneurium: increased connective tissue, fascicular Wallerian degeneration or inflammatory infiltrate Related articles: Approach to weakness, approach … Continue reading Migrant sensory neuritis (Wartenberg Syndrome)

Nonhereditary Amyloid Neuropathy

Diagnosis: Appropriate clinical features plus evidence of amyloid on biopsy Clinical features: Small fibre neuropathy +/-autonomic failure (see under small fibre neuropathy) Findings on investigations: NCS/EMG: Normal Or features of carpel tunnel syndrome Pathology, sural nerve biopsy: Eosinophilic deposits in the endoneurium and vessel walls Congo red: apple green birefringence Sirius red: stains amyloid red … Continue reading Nonhereditary Amyloid Neuropathy

Mycobacterium leprae Neuropathy

Synonyms: a.k.a. Leprosy a.k.a. Hansen’s disease a.k.a. leprous polyneuritis Diagnosis: Clinical features of neuropathy plus evidence of Mycobacterium leprae infection Clinical features: Skin changes (hyperpigmentation, papule) +loss of touch and pain (anesthesia) Spared reflexes Or multiple compression neuropathies (may mimic mononeuritis multiplex) in tuberculoid leprosy Thickened nerves Pathology, nerve biopsy: Acid fast bacilli in perineurium … Continue reading Mycobacterium leprae Neuropathy

HIV Neuropathy

Synonyms: a.k.a. HIV associated polyneuropathy: Diagnosis: HIV infection with clinical features of neuropathy (many forms) with exclusion of other causese Many forms: CIDP, GBS, mononeuritis multiplex, sensory ataxic neuropathy, lumbosacral plexopathy, polyneuropathy Clinical features: Depends on the underlying subtype (see above) Findings on investigations: NCS/EMG, same as respective idiopathic forms Note: Guillain-Barre Syndrome occurs at … Continue reading HIV Neuropathy

Heavy Metal Neuropathy and Solvent Neuropathy

Diagnosis: Neuropathy +documented high heavy metal level +improvement of symptoms/signs/NCS/EMG after withdrawal of agent Clinical features: Clinical features of neuropathy: may be motor neuropathy, sensori-motor polyneuropathy Findings on investigations: NCS/EMG: Axonal pattern Specific causes: Lead neuropathy (see lead poisoning), Mercury (see mercury poisoning), Others, arsenic, thallium, gold, N-Hexane inhalation Related articles: Approach to weakness, approach … Continue reading Heavy Metal Neuropathy and Solvent Neuropathy

Alcohol Neuropathy

It is unclear if alcoholism without associated nutritional deficiency can cause neuropathy Clinical features: Painful sensory polyneuropathy. Pain on light touch a.k.a. allodynia. Loss of ankle jerks Improvement with withdrawal of alcohol and B1 supplementation Related articles: Approach to weakness, approach to sensory deficits, neuromuscular disease patterns, polyneuropathy, Nutritional neuropathy,

Chronic Renal Failure Neuropathy

Synonyms: a.k.a. uremic neuropathy Diagnosis: Clinical or electrodiagnostic features of neuropathy plus chronic renal failure and exclusion of other cause Clinical features: Distal sensorimotor neuropathy +chronic renal failure +resolves with dialysis or treatment of chronic renal failure Findings on investigations: EMG/NCS: Distal Sensorimotor neuropathy In some cases carpel tunnel syndrome Pathology/Nerve biopsy: Axonal loss Related … Continue reading Chronic Renal Failure Neuropathy

Hypophosphatemia Neuropathy

Diagnosis: Clinical features of neuropathy plus phosphate deficiency and exclusion of other causes Clinical features: Acute, Sensorimotor, areflexia, dysarthria Phostphate levels: <2.4 mg/dl Findings on investigations: NCS/EMG: Demyelinating pattern (Prolonged distal latencies, reduced conduction velocities) [case report] In some cases axonal pattern [case reports] F-waves absent Decreased recruitment (neurogenic recruitment) Pathology/Nerve biopsy: Sub-perineural edema, mild … Continue reading Hypophosphatemia Neuropathy

Nutritional Deficiency Neuropathy

Synonyms: a.k.a. nutritional neuropathy Diagnosis: The diagnosis is based on clinical features of neuropathy supported by electrodiagosis and confirmation of nutritional deficiency with exclusion of other causes +improvement of symptoms/signs/NCS/EMG after supplementation Clinical features: Usually features of polyneuropathy. Most commonly sensori-motor neuropathy +documented deficiency Findings on investigations: NCS/EMG: Usually Axonal pattern Pathology, nerve biopsy: Perineuritis … Continue reading Nutritional Deficiency Neuropathy

Charcot-Marie-Tooth disease CMT

Synonyms: Hereditary Motor and Sensory Neuropathy HMSN Now the whole group is called Charcot-Marie-Tooth disease CMT Diagnosis: Clinical +electrodiagnostics (EMG/NCS) +Genetic testing: Clinical features: Abnormal LMN features: weakness Atrophy: champagne-glass legs, stork legs Deformity: claw toe, Friedreich’s foot, kyphoscoliosis Sensory features: loss of vibration and later on loss of proprioception Palpable nerves Genetics: CMT1 a.k.a. … Continue reading Charcot-Marie-Tooth disease CMT

Acromegaly Neuropathy

Diagnosis: Clinical features of neuropathy plus diagnosis of acromegaly and exclusion of other causes Clinical features: Carpal tunnel syndrome, tarsal tunnel syndrome Polyneuropathy Findings on investigations: NCS/EMG: Carpal tunnel syndrome, tarsal tunnel syndrome Polyneuropathy Pathology, Nerve biopsy: Initially: demyelination Onion bulb formation in end stage Related articles: Approach to weakness, neuromuscular disease patterns, polyneuropathy,

Cranial Neuropathies

Here are some lists to help with the cranial neuropathies. Please see the underlying sections. Also see the section on vertigo for cranial nerve VIII diseases. Synonyms: Cranial neuropathy Causes of Oculomotor nerve palsy (CN III): think of anatomy Nuclear & fasciular: Tumours: Glioma Part of a brainstem stroke syndrome Basilar area: Meningitis: Bacterial, Meningovascular … Continue reading Cranial Neuropathies

Diabetic Neuropathy

There are various types of diabetic neuropathy Diabetic polyneuropathy (sensory type and sensorimotor type): Diagnosis: Features of polyneuropathy and meeting criteria for diabetes mellitus Clinical features: Symmetric sensory polyneuropathy, loss of vibration, pain, touch and temperature sensation and in some cases proprioception loss and Charcot joints Areflexia Painful May become sensorimotor Pathology, nerve biopsy: Nonspecific … Continue reading Diabetic Neuropathy

Paraneoplastic Sensory Neuropathy

Diagnosis: The diagnosis is made based on clinical features of neuropathy supported by electrodiagnostic testing and isolation of the underlying neoplasm Clinical features: Painful from: spontaneous pain and mechanical hyperalgesia i.e. painful sensation provoked or exacerbated by pinprick sensation a.k.a. pinprick hyperalgesia or gentle tactile stimulation a.k.a. allodynia Ataxic form: Romberg positive, impaired vibration and … Continue reading Paraneoplastic Sensory Neuropathy

Paraneoplastic Vasculitic Neuropathy PVN

Synonyms: or paraneoplastic neuromyopathy Diagnosis: A subtype of nonsystemic vasculitic neuropathy, requires features of neuropathy on clinical exam or electrodiagnostic studies plus evidence of vasculitis and underlying neoplastic disorder Clinical features: Weakness +/-sensory abnornalities, often with features of mononeuropathy multiplex Findings on investigations: +Nerve conduction studies +EMG: Polyneuropathy or mononeuritis multiplex, axonal neuropathy +/-evidence of … Continue reading Paraneoplastic Vasculitic Neuropathy PVN

Nonsystemic vasculitic neuropathy NSVN

Diagnosis: This is based on clinical features +nerve/muscle biopsy findings of vasculitis +exclusion of systemic causes Clinical features: Clinical features: usually subacute, painful, distal, asymmetric, Findings on investigations: +Nerve conduction studies +EMG: Axonal neuropathy +CSF analysis: increased protein +ESR: might be increased +ANCA negative Pathology, nerve biopsy: Sural nerve or superficial peroneal nerve biopsy +/-muscle … Continue reading Nonsystemic vasculitic neuropathy NSVN

Systemic Vasculitic Neuropathy

Diagnosis: The diagnosis is made based on clinical features +Peripheral neuropathy, +evidence of vasculitis, +evidence of other organ involvement Clinical features: acute, mononuritis multiplex or less commonly mononeuritis simplex or symetric polyneuropathy, sensorimotor +Peripheral neuropathy +evidence of vasculitis +evidence of other organ involvement Findings on investigations: +NCS/EMG: NCS: Axonal neuropathy Conduction block: often transient CMAP: … Continue reading Systemic Vasculitic Neuropathy

Anti-sulfatide Neuropathy

Synonyms: a.k.a. anti-chondroitin sulfate neuropathy: Diagnosis: The diagnosis is made based on clinical features supported by electrodiagnostic tests and antibodies Clinical features: Polyneuropathy (sensory, or sensorimotor, sensory>motor), ataxia may occur, Findings on investigations: Anti-sulfatide antibody (a.k.a. anti-chondroitin sulfate): positive, > 1:1000 titre SPEP +IFE: usually have monoclonal IgM NCS/EMG: Mainly demyelinating pattern with secondary axonal … Continue reading Anti-sulfatide Neuropathy

Anti-GALOP syndrome: Gait ataxia, autoantibody, late onset polyneuropathy

Synonyms: a.k.a. gait ataxia and polyneuropathy GAPN Diagnosis: Clinical features: Late onset 70 year olds, gait ataxia (wide based with falls) and polyneuropathy (sensorimotor, sensory>motor, impaired proprioception) Anti-GALOP (IgM against central myelin antigen a.k.a. galopin): positive, SPEP +IFE: monoclonal IgM Treatment: Intravenous immunoglobulin IVIG cyclophosphamide Related articles: Approach to weakness, neuromuscular disease patterns, polyneuropathy, Polyneuropathy … Continue reading Anti-GALOP syndrome: Gait ataxia, autoantibody, late onset polyneuropathy

Lymphoma Associated Neuropathy

Diagnosis: Clinical and electrodiagnostic features supported by isolation of lymphoma Clinical features: Sensorimotor neuropathy, polyradiculopathy in carcinomatous meningitis Findings on investigations: CSF analysis: cytology and flow cytometery in carcinomatous meningitis NCS/EMG: Sensorimotor neuropathy Or polyradiculopathy in carcinomatous meningitis Pathology revealing lymphoma: Cytology, flow cytometery Bone marrow biopsy Lymphnode excitional biopsy Pathology, Nerve biopsy: Axonal neuropathy … Continue reading Lymphoma Associated Neuropathy

Anti-MAG syndrome

Diagnosis: This is diagnosed by a combination of clinical features, NCS/EMG and antibodies Clinical features: Distal symmetric, sensorimotor (sensory> motor), Findings on investigations: Anti-MAG: positive, IgM against myelin associated glycoprotein MAG SPEP +IFE: IgM paraprotein, monoclonal NCS/EMG: Distal slowing Pathology/nerve biopsy: Demyelination, axonal degeneration IgM deposits at sites of MAG localisation Immunohistochemsitry: Immunofluorescence with Anti-immunoglobulin … Continue reading Anti-MAG syndrome

POEMS syndrome: Polyneuropathy Organomegally Endocrinopathy M protein and Skin changes

Diagnosis: A paraneoplastic syndrome to osteoclastic plasmacytoma Pathology: Muscle actin stain; increased vessels in nerves VEGF: elevated serum levels Criteria/Features: Polyneuropathy: Demyelinating sensorimotor polyneuropathy (motor>sensory), usually painless, length dependent Monoclonal gammopathy: Serum protein electrophoresis with immunofixation IFE: M protein, Lambda light chain, immunofixation is necessary to avoid false negatives Osteoclastic plasmacytoma i.e. note lytic Skin … Continue reading POEMS syndrome: Polyneuropathy Organomegally Endocrinopathy M protein and Skin changes

Polyeuropathy Associated with Paraproteinemia

Diagnosis: This is a category of different neuropathies. Neuropathy due to a gammopathy includes anti-MAG syndrome, POEMS, cryoglobulinemia, IgM MGUS polyneuropathy, Anti-GALOP (IgM against central myelin antigen): Gait Disorder, Autoantibody Late-age Onset Polyneuropathy Evidence of paraproteinemia e.g. SPEP: paraproteinemia Pathology, nerve biopsy: Light microscopy: Nonspecific, loss of myelin and/or axons No inflammation except in cryoglobulinemia … Continue reading Polyeuropathy Associated with Paraproteinemia

Multifocal Acquired Demyelinating Sensory And Motor neuropathy MADSAM

Synonyms: Lewis Sumner syndrome LSS Diagnosis: Clinical features supported by +NCS/EMG Clinical features: Chronic, asymmetric, distal, sensorimotor, arms >legs, can affect cranial nerves Findings on investigations: NCS/EMG: Multifocal conduction block in affected nerves, Widespread sensory abnormalities: helps distinguish from MMN, Asymmetric, helps distinguish it from CIDP Serum anti-GM1 antibody: negative, helps distinguish from MMN CSF: … Continue reading Multifocal Acquired Demyelinating Sensory And Motor neuropathy MADSAM

Subacute Inflammatory Demyelinating Polyneuropathy

Synonyms: a.k.a. subacute IDP Diagnosis: Clinical +NCS/EMG Similar to Guillain Barre Syndrome GBS and Chronic inflammatory demyelinating polyradiculopathy CIDP but lasting 4-8 weeks. Related articles: Approach to weakness, neuromuscular disease patterns, polyradiculopathy, Guillain Barre syndrome GBS, Chronic inflammatory demyelinating polyradiculopathy CIDP,

Radiation Induced Radiculopathy

Synonyms: Formerly radiation induced lower motor neuron syndrome: Diagnosis: Clinical exposure to radiation in lower spinal cord and weakness +/-minor sensory involvement MRI +GAD: enhancement of nerve roots Related articles: Polyradiculopathy,

Critical Care Neuropathy CIP

Synonyms: a.k.a. critical illness polyneuropathy CIP Diagnosis: This is a clinical diagnosis supported by electrodiagnostic features Clinical features: Severely ill patient >1 week in ICU, acute weakness (distal initially), areflexia, flaccid tetraparesis, atrophy, difficulty weaning from ventilator, Findings on investigations: +NCS/EMG: EMG/NCS: reduced CMAP amplitude, reduced SNAP amplitude, normal velocities, no conduction block, fibrillations. NCS: … Continue reading Critical Care Neuropathy CIP

Idiopathic Lumbosacral Plexitis

Synonyms: Idiopathic Lumbosacral plexitis a.k.a. lumbosacral plexitis a.k.a. idiopathic neuralgic amyotrophy a.k.a. Lumbosacral plexopathy Diagnosis: The diagnosis is based on clinical features, electrophysiological findings and exclusion of competing causes. Clinical features: Lumbosacral distribution of pain followed by weakness See lumbosacral plexopathy Findings on investigations: +EMG Localises the lesion to the lumbar/sacral plexus Localises the lesion … Continue reading Idiopathic Lumbosacral Plexitis

Radiation Induced Plexopathies (Radiation Plexopathy)

Diagnosis: The diagnosis is made based on findings of plexopathy clinically and on imaging supported by exclusion of other causes. Clinical features: Exposure to radiation, exclusion of other causes Weakness, usually painless Clinical fasciculations and myokymia may occur Findings on investigations: NCS/EMG: Fasciculations and myokymia may occur SNAP and CMAP: slowed conduction velocity is common … Continue reading Radiation Induced Plexopathies (Radiation Plexopathy)

Heredofamilial Brachial Plexopathy

Synonyms: a.k.a. hereditary brachial plexus neuropathy a.k.a. hereditary neuralgic amyotrophy HNA, rare: Clinical features: Usually Painless Attacks of weakness with recovery over weeks +some cranial involvement Genetics: Mapped to chr. 17q24-25 Autosomal dominant Findings on investigations: NCS/EMG: may be normal between attacks Pathology, nerve biopsy: Semithin plastic sections: Tomacula (sausage like excess myelin) Teased fibres: … Continue reading Heredofamilial Brachial Plexopathy

Carcinomatous Plexopathy

Diagnosis: The diagnosis is confirmed by isolation of the causative neoplasm and electrophysiological and clinical findings Clinical features: Painful, Features of brachial plexopathy or those of lumbosacral plexopathy: Weakness in lower plexus C8, T1 distribution +atrophy Associated with Horner’s syndrome Asymmetric leg weakness, reduced reflexes Findings on investigations: NCS/EMG: Denervation (fibrillations and positive sharp waves … Continue reading Carcinomatous Plexopathy

Acute Brachial Plexus Neuritis

Synonyms: a.k.a. Parsonage-Turner syndrome formerly brachial neuralgic amyotrophy Diagnosis: This is a clinical diagnosis supported by electrophysiological findings and consistent imaging Clinical features: Brachial distribution of pain followed in 3-10 days by weakness and atrophy with areflexia In some cases sensory loss may occur May be bilateral Findings on investigations: +EMG: Localised to brachial plexus, … Continue reading Acute Brachial Plexus Neuritis

Neurogenic Thoracic Outlet Syndrome

This is a type of cervical rib syndrome. There is a related vascular thoracic outlet syndrome. Diagnosis: The diagnosis is made by clinical and electrophysiological (NCS/EMG) and then imaging to identify the underlying case. Clinical features: Pain: C8 andT1 Sensory loss C8 and T1 Weakness: abductor pollicis brevis Puling on the arm (down) reproduces sensory … Continue reading Neurogenic Thoracic Outlet Syndrome

Autonomic Neuropathy

Synonyms: Autonomic neuropathy/autonomic failure/autonomic dysfunction Diagnosis: Autonomic dysfunction may be central (CNS) or peripheral (PNS) Clinical features: Helps define distribution and extent of disease: Sympathetic, parasympathetic Adrenergic, cholinergic Helps define presents of associated CNS disease Helps define associated systemic disease Autonomic function testing: Baroreceptor function testing a.k.a. Cardiovagal testing by HR variability: Beat to beat … Continue reading Autonomic Neuropathy


Diagnosis: This is a clinical diagnosis supported by electrophysiological findings on NCS/EMG Clinical features of radiculopathy in general: Motor or sensory involvement restricted to the distribution of an isolated nerve root level e.g. C5 nerve rooth or L5 nerve root. The motor involvement may include weakness, atrophy or rarely faciculations in a myotome distribution. The … Continue reading Radiculopathy


Synonyms: Polyradiculoneuropathy Diagnosis: The diagnosis is clinical supported by electrophysiological studies (NCS/EMG) Clinical features: A syndrome with involvement of multiple nerve roots and peripheral nerves. Usually equal proximal and distal weakness with reduced reflexes Findings on investigations: +NCS: Symmetrical i.e. <50% difference between sides Decreased SNAP Decreased CMAP Motor conduction velocities: mild decrease (remaining >75% … Continue reading Polyradiculopathy

Brachial Plexopathy

Diagnosis: The diagnosis is made based on clinical features supported by neurophysiology (NCS/EMG) Findings on investigations: Neurophysiology (NCS/EMG) SNAP: More sensitive than CMAP Normal conduction velocity and distal latency Decreased amplitude in affected nerve (may be normal initially). CMAP: Indicates severe injury Decreased amplitude Conduction block distal to Erb’s point (i.e. amplitude is reduced at … Continue reading Brachial Plexopathy

Mononeuropathy Multiplex

Synonyms: Mononeuropathy multiplex a.k.a. mononeuritis multiplex Diagnosis: This is a clinical plus electrophysiological diagnosis Clinical features: a syndrome with involvement of at least two separate nerves. Usually sensorimotor. Findings on investigations: +NCS: Axonal, asymmetrical i.e. >50% difference between sides, distribution of multiple separate nerves Decreased SNAP Decreased CMAP Motor conduction velocities: mild decrease (remaining >75% … Continue reading Mononeuropathy Multiplex

Small Fibre Sensory Neuropathy SFSN

Synonyms: Small fibre sensory neuropathy SFSN a.k.a. small fibre neuropathy SFN Clinical features: Small fibre involvement: Neuropathic pain; allodynia, hyperalgesia Reduced sensation to pin prick and temperature. Absence of large fibre involvement: light touch, vibratory, proprioceptive sensory loss or absent deep tendon reflexes Normal motor exam Findings on Investigations: +Electrodiagnosis NCS (sensory +motor +F waves) … Continue reading Small Fibre Sensory Neuropathy SFSN


Synonyms: Distal symmetric polyneuropathy Diagnosis: This is a clinical diagnosis supported by electrophysiologic (nerve conduction studies and electromyography) testing. The underlying cause may be determined based on blood tests and other testing. Clinical features: Subtypes: sensory, senosrimotor, autonomic or combination. It may be axonal or demyelinating. Axonal forms are more common. Typical features: Distal symmtric … Continue reading Polyneuropathy

Electrical injury to anterior horn cells

Diagnosis: This is usually a clinical diagnosis based on exposure to electrical injury and clinical features of lower motor neuron disease Clinical features LMN disease (weakness, with reduced or absent reflexes), minimally progressive Previous electrical injury Related articles: Approach to weakness, Neuromuscular disease patterns, Amyotrophic lateral sclerosis,


Synonyms: Mononeuropathy, including Compressive neuropathy a.k.a. nerve compression Diagnosis: This is a clinical diagnosis supported by electrophysiology (NCS/EMG) Clinical features: Dysfunction limited to one isolated peripheral nerve for example the median nerve, the ulnar nerve, the radial nerve, the femoral nerve, the peroneal nerve etc. Only one nerve involved. This distinguishes the syndrome from mononeuropathy … Continue reading Mononeuropathy

Spinal and bulbar muscular atrophy, Kennedy disease

Synonyms: Spinal and bulbar muscular atrophy (SBMA), Kennedy disease Diagnosis: This is a clinical diagnosis supported by NCS/EMG Clinical features: Lower motor neuron (LMN) disease Muscle atrophy, weakness, contraction fasciculations, and bulbar involvement Gynecomastia, testicular failure Genetics: Androgen receptor (AR) gene, expansion of CAG trinucleotide repeat Related articles: Approache to weakness, nerve diseases, Amyotrophic lateral … Continue reading Spinal and bulbar muscular atrophy, Kennedy disease

Primary Lateral Sclerosis

Diagnosis: Clinical features plus unrevealing investigations (NCS/EMG, MRI, lab tests) for other causes. This  is a diagnosis of exclusion.   Diagnostic categories of PLS (Gordon et al.) Autopsy-proven PLS Clinically diagnosed PLS with degeneration in motor cortex and corticospinal tracts, no loss of motor neurons, no gliosis in anterior horn cells, and no Bunina bodies … Continue reading Primary Lateral Sclerosis


Diagnosis: A combination of clinical features and CSF analysis Clinical features: Prodrome: upper respiratory tract infection Followed by: Mild meningismus +headache Myalgial, paraesthesia, paralysis and respiratory weakness After recovery LMN features and flaccid weakness. Autonomic features (swollen, clammy, cold, purple) in Lower limbs. Findings in Investigations: CSF: Pleocytosis Serology NCS/EMG: Asymmetrical involvement. Motor evoked potential … Continue reading Poliomyelitis

Spinal Muscular Atrophy

Synonyms: see eponyms under subtypes Diagnosis: A form of motor neuron disease Genetics: SMN1 gene chr. 5 (survival motor neuron gene), autosomal recessive with modifier genes, Modifier genes: SMN2 gene number of copies, Subtypes: SMA1 a.k.a. Werdnig-Hoffman disease: onset at birth or prenatally, hypotonia frog-like leg posturing, respiratory muscle paralysis SMA2 a.k.a. intermediate: onset at … Continue reading Spinal Muscular Atrophy

Cryoglobulinemia, Neurological Manifestations

Diagnosis: Clinical features plus isolation of cryoglobulins Clinical features: Hepatitis Purpura (legs), arthralgia, glomerulonephritis Raynaud’s phenomenon Peripheral neuropathy, precipitated by cold +serum Cryoglobulins: positive Type I cryoglobulin: Monoclonal protein without rheumatoid factor activity Associated with plasma cell dyscrasia Type II mixed cryoglobulin MC (formerly essential mixed cryoglobulinemia): Monoclonal protein with rheumatoid factor activity +polyclonal component … Continue reading Cryoglobulinemia, Neurological Manifestations

Giant Cell Arteritis

Synonyms: a.k.a. cranial arteritis a.k.a. temporal arteritis: Diagnosis: Biopsy of the temporal artery within 7 days of starting steroids: With serial sectioning Or clinical features plus raised ESR or CRP plus response to steroids Pathology: Panarteritis: Intimal thickening and proliferation, Lymphocytic infiltration of media and adventitia, giant cells, Disruption of elastic lamina Chronic phase: intimal … Continue reading Giant Cell Arteritis

Familial amyloid polyneuropathy FAP

Synonyms: a.k.a. Familial amyloidotic polyneuropathy FAP, a.k.a. Hereditary amyloid neuropathy Diagnosis: Biopsy plus genetic testing Types of familial amyloid polyneuropathy: Transthyretin amyloidosis Apolipoprotein A-I Gelsolin   Transthyretin amyloidosis a.k.a. amyloidogenic mutated transtyretin ATTR: TTR gene mutation, protein= transthyretin, autosomal dominant Clinical features: Polyneuropathy: Autonomic, symmetric mainly sensory polyneuropathy (pain and temperature dysfunction >proprioception/vibration) Genetics: Transtyretin … Continue reading Familial amyloid polyneuropathy FAP

Neurosarcoidosis, Sarcoid disease Neurological Manifestations

Neurosarcoidosis manifestations: Myelopathy Cranial neuropathies Pituitary disease Dural based lesion Encephalopathy CNS sarcoid angiitis Peripheral sensory neuropathy Myopathy Diagnosis: Histology: +typical findings +excluding other diseases confirms the diagnosis Histology: noncaseating granuloma Findings on Investigations: CXR: Stage 0: normal Stage I: bilateral hilar lymphadenopathy or paratracheal lymphadenopathy Stage II: hilar lymphadenopathy +pulmonary infiltrates Stage III: pulmonary … Continue reading Neurosarcoidosis, Sarcoid disease Neurological Manifestations

Tongue-Neck Syndrome

Clinical features: Pain in the neck/occiput and ipsilateral half of the tongue symptoms (numbness, paraesthesia, pseudoathetosis, dysarthria) aggravated by neck movement, Investigations to consider: MRI c-spine: cervical spondylosis Related articles: Myelopathy,

Skull Base Syndromes

Subtypes: Jugular foramen syndrome= Vernet’s syndrome Collet-Sicard syndrome= Posterior lacerocondylar area syndrome= intercondylar space syndrome Retropharyngeal space syndrome= Villaret’s syndrome Hypoglossal canal syndrome, Foramen magnum syndrome, Carotid canal syndrome Clinical features: Features depend on involved nerves: Symptions: Choking, dysphagia, speech changes, auditor canal pain, headache Features by nerve: IX: loss of gag reflex, sensation of … Continue reading Skull Base Syndromes

Isolated Facial palsy, CN VII

Upper motor neuron lesion: Diagnosis: This is a clinical diagnosis. The underlying cause is determined by investigations and clinical correlation. Clinical features: Sparing of the forehead muscles Asymmetry of face at rest or on movement: smile, puffing the cheeks and on wincing The palpebral fissure may be widened on the affected side Investigations to consider: … Continue reading Isolated Facial palsy, CN VII

Mental Neuropathy

Synonyms: a.k.a. numb chin syndrome Diagnosis: This is a clinical syndrome diagnosed by signs and symptoms. The underlying cause is determined by investigations and clinical correlation. The distal branches of the trigeminal nerve V3 are affected. Clinical features: Unilateral numb chin +/-anaesthesia of chin & lower lip Investigations to consider: Imaging for underlying neoplasm Mandible … Continue reading Mental Neuropathy

Superior Orbital Fissure Syndrome

Synonyms: Anterior cavernous sinus syndrome, Rochon-Duvigneaud’s syndrome Diagnosis: This is a clinical diagnosis. Underlying causes are identified by investigations and clinical assessment. Dysfunction of cranial nerves oculomotor (III), trochlear (IV), abducens (VI) and first division of the trigeminal nerve (V1). Also sympathetic fibers may be involved causing a Horner syndrome (this becomes cavernous sinus syndrome). … Continue reading Superior Orbital Fissure Syndrome

Cavernous Sinus Syndrome

Diagnosis: This is a clinical diagnosis. Dysfunction of cranial nerves III, IV, and VI, and the superior divisions of cranial nerve V. Investigations to consider: Blood tests: FBC, U&E, fasting Glucose Vasculitic screen, ESR, CRP, ANCA, ANA, ENA SPEP, ACE Tests for infections: Borrelia serology, HIV MRI pre and post contrast: Pituitary tumors, meningioma, metastasis … Continue reading Cavernous Sinus Syndrome

Internuclear Ophthalmoplegia (INO)

Diagnosis: This is a clinical diagnosis. The underlying cause is determined by investigations Clinical features: Diplopia Classic variant, posterior INO: On lateral gaze: Failure of adduction of the contralateral eye, nystagmus of the abducting eye Medial rectus is less weak on testing each eye separately Anterior INO variant: Divergent eyes bilaterally, paralysis of both medial … Continue reading Internuclear Ophthalmoplegia (INO)

Abducens (cranial nerve VI palsy)

Diagnosis: This is a clinical diagnosis Clinical features: Horizontal diplopia In neutral gaze, normal appearance or head is slightly turned to the unaffected side (compensation for unopposed medial rectus) On movement: Affected eye fails to abduct Investigations to consider: Blood tests: ESR: giant cell arteritis TFT, glucose ANCA: Wegner’s granulomatosus HbA1c ESR CT: Out rules … Continue reading Abducens (cranial nerve VI palsy)

Trochlear Nerve Palsy (Cranial IV palsy)

Diagnosis: This is a clinical diagnosis Clinical features: Rare in isolation In neutral gaze: slight head tilted contralateral to the weak superior oblique muscle (loss of in-torsion) Test with eye adducted and moved inferiorly. This is also the position of worse diplopia If bilateral: on horizontal gaze, the abducting eye drifts downwards (inferior rectus of … Continue reading Trochlear Nerve Palsy (Cranial IV palsy)

Oculomotor Palsy (cranial nerve III palsy)

Synonyms: a.k.a. III nerve palsy Diagnosis: This is a clinical diagnosis. The underlying cause requires investigations. Clinical features: In neutral gaze: The eye is looking down & out. There is complete ptosis. On looking downwards torsional (in-torsion) nystagmus of the eye occurs (due to intact IV nerve action) Note the presence of meiosis: Normal pupil … Continue reading Oculomotor Palsy (cranial nerve III palsy)

Horner Syndrome

Synonyms: a.k.a. occulosympathetic defect Diagnosis: This is a clinical diagnosis plus pharmacological tests on occasion Clinical features: Miosis, partial ptosis, anhydrosis, illusion of enophthalmos, red eye Pharmacological test: Cocaine eye drops 2% in both eyes, failure to dilate diagnoses Horner’s syndrome. Dilation on adding amfetamine (Paradrine 1% (hydroxyamphetamine, most common) or Pholedrine 5% (n-methyl derivative … Continue reading Horner Syndrome


Diagnosis: This is a clinical finding on examination. The corresponding symptom is oscillopsia, although it is often absent. Nystagmus is common in disorders that cause vertigo or ataxia. Investigations to consider: Down beat, MRI: cervicomedullary lesions, Chiari Malformation, Multiple sclerosis, brainstem tumor, brainstem stroke, spinocerebellar degeneration Convergence-Retraction: MRI: dorsal midbrain lesions Ocular bobbing, MRI: pontine … Continue reading Nystagmus

Bickerstaff Brainstem Encephalitis (BBE)

Diagnosis: Clinical features plus antibody tests Clinical features: Decreased level of consciousness, areflexia Findings on Investigations: Anti-GQ1b IgG antibody: positive Treatment: Intravenous Immunoglobulin IVIG  

Chronic Lymphocytic Inflammation with Pontine Perivascular Enhancement Responsive to Steroids (CLIPPERS)

Diagnosis: Clinical features, MRI and occasionally biopsy Clinical features: Episodic diplopia or facial paresthesias with subsequent brainstem and occasionally myelopathic symptoms and had a favourable initial response to high dose glucocorticosteroids Findings on Investigations: +MRI: Symmetric curvilinear gadolinium enhancement peppering the pons and extending variably into the medulla, brachium pontis, cerebellum, midbrain and occasionally spinal … Continue reading Chronic Lymphocytic Inflammation with Pontine Perivascular Enhancement Responsive to Steroids (CLIPPERS)

Idiopathic Hypertrophic Cranial Pachymeningitis

Diagnosis: Rare, A diagnosis by exclusion Note: Pachymeningitis is a radiologic pattern Clinical features: Severe headache, cranial nerve palsies, ataxia, loss of vision (optic nerve involvement) Pathology: Biopsy: Meningeal Polymorphonuclear infiltration Findings on Investigations: MRI: T1 +contrast: enhancement of the meninges without enhancement of the sulci. Involves the tentorium, falx, calvarium T2: hypointense dura Investigations … Continue reading Idiopathic Hypertrophic Cranial Pachymeningitis

Perineural Cyst

Synonyms: a.k.a. Tarlov cyst Diagnosis: MRI: Sacral, bilateral, cyst along nerve roots Follows CSF signal on all sequences Pathology: Histology: Not a true cyst, but separation of the epineurium from the perineurium Collagenous tissue, nerve fascicles.  

Intraneural Perineuroma

Synonyms: formerly localized hypertrophic mononeuropathy Diagnosis: Suggested by MRI and confirmed by pathology (brain biopsy/resection) Findings on Investigations: MRI: MRI neurography (fat saturated T2 or fat saturated T1 post Gadolinium): Hypertrophic nerve, fusiform, several 5-10cm or more. Upper limb: posterior interosseus, radial, ulnar nerves. Or lower limb: sciatic, peroneal, tibial, femoral nerves Pathology: Histology: HE: … Continue reading Intraneural Perineuroma

Neurofibromatosis (NF)

Diagnosis: Clinical features: NF 1, two or more of the following: >5 Café au lait spots Neurofibroma: 2 or more neurofibroma or 1 plexiform neurofibroma Freckles in the axilla or inguinal area a.k.a. Crowe’s sign 2 or more Lisch nodules (iris hamartomas) Optic glioma A distinctive osseous lesion: sphenoid dysplasia, thinning of long bone cortex … Continue reading Neurofibromatosis (NF)


A group of disorders with the following general features Neuroacanthocytosis general features Neurologic symptoms +blood smear with increased acanthocytes (spiky appearing RBCs). Note: wet preparation with a 1:1 dilution with normal saline, i.e. one drop of blood with one drop of saline. Choreoacanthocytosis: Diagnosis: Clinical features: Chorea, orofaciolingual dyskinesia Dysphagia, dysarthria, Seizures Dementia Areflexia (peripheral … Continue reading Neuroacanthocytosis

Hemifacial Spasm

Diagnosis: Clinical features: Episodic unilateral twitching of the face. May lead to eye closure, but is distinguished from blepharospasm by being unilateral and often having an upgoing forhead muscle ipsilateral to the facial twitch A type of segmental myoclonus involving the muscles supplied by the facial nerve (cranial nerve VII) Investigations to consider: Consider if … Continue reading Hemifacial Spasm

Friedreich’s Ataxia

Diagnosis: Genetics: Autosomal recessive Frataxin gene chr. 9. Protein= Frataxin. GAA nucleotide repeat (normal repeat number is 6-27). Compound heterozygotes occur in 5%. Clinical features: Ataxia & dysarthria Areflexia, extensor plantars Hammer toes arched foot, scoliosis Pathology: Gross: atrophy of spinal cord. Grey discolouration of posterior & lateral aspects of the spinal cord. Small sensory … Continue reading Friedreich’s Ataxia

Complex Regional Pain Syndromes CRPS

Synonyms: Former/other names: Causalgia, Reflex sympathetic dystrophy RSD, Shoulder-hand syndrome, Sudeck’s atrophy, algoneurodystrophy Types: CRPS type I: occurs following soft tissue injury, formerly reflex sympathetic dystrophy (RSD) CRPS type II: occurs following nerve injury, formerly causalgia Clinical features: Pain, allodynia, hyperalgesia after the injury Oedema, skin blood flow changes, or abnormal sweat gland (sudomotor) activity … Continue reading Complex Regional Pain Syndromes CRPS

Neck-tongue syndrome

Diagnosis: Clinical: Neck pain after sudden turning of the head in distribution of C2 & lateral aspect of tongue +/-dysesthesia/numbness Investigations to consider: MRI C-spine: cervical spondylosis or lesions involving C2 Flexion-extension X-rays of the neck: atlantoaxial instability CT flexion-extension views of the neck or right-left rotational views: atlantoaxial instability  

Bell's Palsy

Synonyms: Idiopathic facial nerve palsy (CN VII) Diangosis: Bell’s palsy is a diagnosis by exclusion Clinical diagnosis: Unilateral Lower motor neuron pattern facial palsy (the forehead muscles are involved) Bell’s phenomenon: the eyes will roll upwards and backwards when eyelid closure is attempted. This is a normal response that occurs in everyone, but it is … Continue reading Bell's Palsy

Traumatic nerve root avulsion

Diagnosis: Clinical +electrophysiology or CT myelogram: Trauama, flaccid paralysis, areflexia NCS/EMG: Fibrillation & positive sharp waves PSW in paraspinous muscles SNAP: Normal conduction velocity in affected area (i.e. preganglionic) SSEP: Absent cortical response in affected segment CT myelogram: Avulsed nerve roots

Spinal Vascular Lesions

Classification: Neoplastic vascular lesions: Hemangioblastoma Cavernous hemangioma Spinal aneurysms, rare Spinal Arteriovenous fistula, AVF Extradural Intradural: a.k.a. Foix-Alajouanine Ventral intradural: A. Small shunt B. Medium shunt C. Large shunt Dorsal intradural: A. single feeder B. multiple feeders Spinal Arteriovenous malformation AVM: Extradural-intradural Intradural: Intramedullary: Compact Diffuse Conus medullaris     Spinal Arteriovenous Fistula, spinal-AVF: Spinal … Continue reading Spinal Vascular Lesions

Chronic Inflammatory Demyelinating Polyradiculopathy

Synonyms: Chronic inflammatory demyelinating polyradiculoneuropathy a.k.a. Chronic inflammatory demyelinating polyneuropathy, CIDP Diagnosis: Is by clinical findings supported by +NCS/EMG and occasionally nerve biopsy Clinical features: Clinical: >2 months, gradual onset, usually sensorimotor, arms & legs, proximal weakness & distal weakness, usually spares the cranial nerves, thickened nerves may occur. NCS/EMG Nerve conduction studies: Key features: … Continue reading Chronic Inflammatory Demyelinating Polyradiculopathy

Lumbosacral Plexopathy

Diagnosis: This is a clinical diagnosis supported by neurophysiological (electrophysiology NCS/EMG) tests Clinical features: Weakness and sensory loss in lumbosacral distribution that spares the paraspinal muscles and is usually asymmetric in a distribution localizing to the plexus. Lumbar plexopathy: Loss of knee reflex Weakness: hip flexors, hip adductors, knee extensors, Reverse straight leg sign may … Continue reading Lumbosacral Plexopathy

Amyotrophic Lateral Sclerosis

Synonyms: Lou Gehrig disease Clinical features: Features of upper motor neuron (UMN) disease (including increased reflexes in wasted limb) & lower motor neuron (LMN) disease +/-pseudobular palsy +/-cramps Weakness, fasciculations No sensory disturbance, no bowel or bladder dysfunction Diagnostic criteria: El Escorial criteria, also known as, World Federation of Neurology criteria (used more for research) … Continue reading Amyotrophic Lateral Sclerosis

Guillain-Barre Syndrome

Guillain-Barre Syndrome (GBS) is an acute inflammatory polyradiculopathy. It is immune mediated and causes ascending weakness in the limbs, respiratory failure and autonomic instability. Synonyms: Landry-Guillain-Barre-Strohl syndrome Clinical features: Progressive ascending weakness in both legs & arms & areflexia Relative symmetry, autonomic dysfunction, mild sensory symptoms Findings on Investigations: CSF analysis: Albuminocytological dissociation after one … Continue reading Guillain-Barre Syndrome

Tick Paralysis

Tick paralysis also known as Tick bite paralysis is a neuromuscular condition that causes ascending symmetric flaccid paralysis. Clinical features: Prodrome phase followed by weakness Then acute generalised weakness (ascending symmetric flaccid paralysis), involves cranial nerves, usually occurs in children, usually spring or summer. No sensory symptoms +Tick bite or tick attached to skin In … Continue reading Tick Paralysis

Diphtheria Polyneuritis

Diphtheria polyneuritis is a neuromuscular condition that is caused by the bacteria Corynebacterium diphtheriae. It classically causes pharyngitis followed by descending weakness that starts with bulbar weakness and progresses to involve the limbs. Clinical features: Corynebacterium diphtheriae infection: this causes pseudomembrane of the pharynx/tonsils, URI, sore throat Then at 1-2 weeks pharyngeal & laryngeal paralysis, … Continue reading Diphtheria Polyneuritis

Multifocal Motor Neuropathy

Multifocal motor neuropathy (MMN) is a neuromuscular disease that usually presents with asymmetric weakness in a limb. The clinical pattern is that of mononeuropathy multiplex. The condition is treatable.   Clinical features: Asymmetric weakness, usually upper limbs, spares cranial nerves, reflexes may be preserved, fasciculations may occur Note this is a form of mononeuropathy multiplex … Continue reading Multifocal Motor Neuropathy

Nerve diseases

Please start with the section on neuromuscular disease patterns for an introduction. Once you determined that the patient likely has a nerve disease you will need to consider which type to narrow down the differential diagnosis. As described in the previous section determining which of the main patterns cranial neuropathy, mononeuropathy, radiculopathy, polyneuropathy, mononeuropathy multiplex, … Continue reading Nerve diseases

Neuromuscular disease patterns

Main patterns in neuromuscular disease: Peripheral nervous system disease (nerve diseases): Cranial neuropathies (Optic neuropathy CN II, Oculomotor neuropathy CN III, Trochlear nerve palsy CN IV, Abducens neuropathy CN VI, Trigeminal neuralgia CN V, Facial palsy VII, Glossopharyngeal neuralgia CN IX, Cavernous sinus syndrome, superior orbital fissure syndrome, Skull base syndromes) Motor neuron disease (Amyotrophic … Continue reading Neuromuscular disease patterns