Tag Archives: Immune

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

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-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

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

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

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

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

Behcet's Syndrome

Diagnosis: Recurrent oral ulceration plus two of the following: Recurrent genital ulceration Eye lesions Skin lesions Pathergy test: skin reaction to intradermal saline injection Findings on Investigations: MRI brain: Infarcts: brainstem and thalamic Cerebral Angiogram/angiography: Narrowing, aneurysm (arterial and venous) Investigations to consider: ESR and CRP: Raised FBC: leukocytosis Treatment: Mucous membrane involvement: Glucocorticoid mouthwash … Continue reading Behcet's Syndrome

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

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

Parinaud Syndrome

Synonyms: Sylvian acqueduct syndrome a.k.a. Koeber-Salus-Elschnig syndrome Diagnosis: This syndrome is a clinical diagnosis. The underlying cause is determined by investigations and clinical correlation. Clinical features: Slightly dilated fixed pupils (i.e. no light reflex), light-near dissociation, upward gaze palsy. Lid retraction (Collier’s sign) Convergence-retraction nystagmus (especially on attempted up gaze) Investigations to consider: MRI: Lesion … Continue reading Parinaud Syndrome

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

Tolosa Hunt Syndrome

Diagnosis: Painful opthalmoplegia over days to weeks, usually >40 y.o., causes cavernous sinus syndrome (dysfunction of cranial nerves III, IV, and VI, and the superior divisions of cranial nerve V) Must exclude other causes: trauma, inflammatory, infective, vascular, neoplastic ESR: high i supportive MRI Findings on Investigations: MRI: T1 isointense, T2 hyperintense, T1+contrast= enhancement CT: … Continue reading Tolosa Hunt Syndrome

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)

Cancer-associated retinopathy (CAR)

Diagnosis: A paraneoplastic syndrome. diagnosed based on clinical features, associated antibodies, perimetry and identification of the underlying neoplasm Clinical features: Rapid visual loss Anti CAR antibodies (VPS, Anti-Recoverin): raised Goldmann perimetry: ring-like scotoma in each eye Investigations to consider: CT chest abdomen & pelvis: lung cancer Related articles: Approach to visual deficits, Optic neuritis,

Hashimoto Encephalopathy

Synonyms: Steroid Responsive Encephalopathy Associated With Autoimmune Thyroiditis SREAT a.k.a. Hashimoto’s encephalopathy Diagnosis: A diagnosis by exclusion with the following: Encephalopathy characterised by: Tremor, transient aphasia, myoclonus, gait ataxia, seizures, and sleep abnormalities +no other identifiable cause +Positive antithyroid antibodies: anti-thyroglobulin or anti-thyroperoxidase antibodies +/-abnormal TFTs: usually hypothyroidism, but may be euthyroid to hyperthyroid +response … Continue reading Hashimoto Encephalopathy

Acute Disseminated Encephalomyelitis (ADEM)

Synonyms: a.k.a. Acute dissemniated leukoencephalitis a.k.a. Acute postinfectious/post-vaccinial perivenous encephalitis, a.k.a. acute demyelinating encephalomyelitis, Diagnosis: Clinical  features plus MRI and supportive tests Clinical features: Encephalopathy, focal findings may occur. Often follows an infectious illness or exposure to new antigen to medication Findings on Investigations: MRI T2: preferred. High signal intensities (large patchy) in white matter … Continue reading Acute Disseminated Encephalomyelitis (ADEM)

Nonparaneoplastic Autoimmune Limibic Encephalitis

Diagnosis: Clinical features plus antibodies and negative investigations for neoplastic disease Clinical features: Subacute impairment, seizures, temporal lobe seizures & hallucinations, Findings on Investigations: Associated antibodies: VGKC, voltage-gated potassium channels (Kv1) antibodies: These are positive in patients with limbic encephalitis, Morovan’s syndrome. These have differnet targets. Lgi1: leucine-rich, glioma inactivated 1 protein, a subtype of … Continue reading Nonparaneoplastic Autoimmune Limibic Encephalitis

Paraneoplastic Encephalomyelitis, Paraneoplastic Encephalitis

Synonyms: a.k.a. paraneoplastic encephalitis, a.k.a. paraneoplastic limbic encephalits Diagnosis: A combination of serology,  clinical features and identification of underlying tumor Clinical features: Subacute impairment, seizures, temporal lobe seizures & hallucinations, Other features may occur:, Pathology: Limbic encephalitis (medial temporal lobe, hippocampus, amygdala, cingulate gyrus, inula), thalamus, brainstem encephalitis, cerebellum, spinal cord grey matter, dorsal root … Continue reading Paraneoplastic Encephalomyelitis, Paraneoplastic Encephalitis

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)

Optic Neuritis

Diagnosis: Clinical features with or without imaging or physiological tests Clinical features: Painful, loss of vision, & loss of accurate colour vision (dyschromatopsia) Fundoscopy: swollen optic disc (optic disc edema, this is not papilledema because pressure is normal), Relative afferent papillary defect Findings on Investigations: MRI: T2 fat suppressed, high signal foci in the optic … Continue reading Optic Neuritis

Neuromyelitis Optica

Synonyms: a.k.a. Devic’s disease Diagnosis: A combination of clinical features, NMO-IgG antibodies and imaging Clinical features: simultaneous or sequential occurrence of optic neuritis and myelitis (usually acute complete transverse myelitis). Findings on Investigations: MRI: Spinal cord lesion =or> 3 segments long Non-diagnostic for Multiple sclerosis White matter lesions that are long & extend from the … Continue reading Neuromyelitis Optica


Clinical features: Proximal muscle weakness; may be asymmetric. Muscle wasting is late Shoulder girdle tenderness (may be absent) Dysphagia & neck muscle weakness may occur Spares face muscles & ocular muscles Muscle biopsy: Endomysial (within the fascicles): muscle fibre necrosis, lymphocytes (absence of eosinophils & plasma cells). Absence of rimmed vacuoles. Surrounding healthy fibres. If … Continue reading Polymyositis


 Clinical features: Heliotrope ‘lilac/purple blue’ rash around the eyelids, malar region, extensors, knuckles, trunk Gottron’s papules on hand dorsum Nailfold telangiectasia & erythema Nail changes; thickening, cracking Proximal Muscle weakness Findings on investigations: Nerve conduction studies/electromyography NCS/EMG: MUAP Myopathic recruitment On activation: Short duration, low amplitude polyphasic units Spontaneously: increased activity with fibrillations, complex repetitive … Continue reading Dermatomyositis

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

Myasthenia Gravis

Clinical features: Ptosis, Diplopia (extraoccular muscle weaknss), dysphagia & facial weakness, respiratory failure In some patients: no ocular or facial weakness occurs Fatigable weakness, worse after exertion Fixed proximal myopathy in end stage disease Findings on Investigations: Neurotransmitter related tests: Edraphonium test (Tensilon): 10 mg I.V. (2mg initially & 8mg after 30 seconds) or Neostigmine … Continue reading Myasthenia Gravis

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

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

Multiple Sclerosis

This is an autoimmune disease of the central nervous system white matter. There is some evidence that the grey matter may be involved in the disease, but it is best to think of it as a type of white matter disease. The disease is multifocal i.e. it affects non-adjacent parts of the white matter. The … Continue reading Multiple Sclerosis