Anti-IgLON5 disease with distinctive brain MRI findings responding to immunotherapy: A case report.

RATIONALE: Anti-IgLON5 disease was first described as a progressive antibody-associated encephalopathy, with multiple non-specific clinical symptoms including sleep dysfunction, bulbar symptoms, progressive supranuclear palsy-like syndrome, cognitive impairment, and a variety of movement disorders. This newly discovered disease presents with unremarkable or unspecific brain magnetic resonance imagings (MRI), and have poor responsiveness to immunotherapy. PATIENT CONCERNS: In this case, a 37-year-old man presented with 4-day history of gait instability, dysarthria, and oculomotor abnormalities. The initial neurologic examination revealed mild unsteady gait, subtle dysarthria, and left abducent paralysis. DIAGNOSIS: The patient was diagnosed with anti-IgLON5 disease, based on clinical features and positive anti-IgLON5 antibodies in serum. INTERVENTIONS: Initially, the patient was treated with high dosages of methylprednisolone and immunoglobulins.Outcomes: The symptoms of patient rapidly improved after high-dose intravenous methylprednisolone and immunoglobulins. CONCLUSIONS: In this paper, we report a new case of anti-IgLON5 disease with major symptoms of gait instability, dysarthria, and oculomotor abnormalities, with distinctive brain MRI findings, and responsive to immunotherapy.

Isolated cranial neuritis of the oculomotor nerve: Expanding the MOG phenotype?

Autoantibody against myelin oligodendrocyte glycoprotein (MOG) has been reported in a range of demyelinating neurological entities. Recent studies demonstrate a wider spectrum of MOG-IgG-associated disorders with the discovery of MOG-IgG-positive brainstem encephalitis, cortical encephalitis, and cranial nerve involvement with concurrent central nervous system involvement. We present a MOG-IgG-positive pediatric patient diagnosed with isolated oculomotor neuritis without concurrent central nervous system neuroimaging lesions, in the absence of a demyelinating event. Brain MRI shows swelling and gadolinium enhancement of the left oculomotor nerve at the cisternal segment. This is the first report to demonstrate MOG-IgG seropositivity in isolated cranial nerve lesions. This case may expand the clinical phenotype of MOG-IgG-associated diseases, and clinicians should not hesitate to test for MOG-IgG in cases with neuroimaging features of cranial neuritis alone.

Unilateral Oculomotor Nerve Palsy Following Campylobacter Infection: A Mild Form of Miller Fisher Syndrome without Ataxia.

Unilateral oculomotor nerve palsy can result from various neurological disorders. We herein report the case of a 68-year-old man with complete unilateral oculomotor nerve palsy following campylobacter infection. Based on the antecedent infection and the patient's decreased tendon reflexes, incomplete Miller Fisher syndrome (MFS) without ataxia was suspected. His serum tested positive for anti-GQ1b antibodies. He recovered over a period of 87 days without immunotherapy. We conclude that incomplete MFS following campylobacter infection can cause unilateral oculomotor nerve palsy without ataxia. Mild MFS should be considered in patients presenting with unilateral isolated ophthalmoplegia and decreased tendon reflexes.

Immunoglobulin G4-related intracranial inflammatory pseudotumours along both the oculomotor nerves.

We report the first documented case of IgG4-related inflammatory pseudotumours (IPTs) along the bilateral oculomotor nerves. A man in his 60s complained of decreased vision. He exhibited bilateral optic nerve atrophy without any extraocular movement deficits. MRI revealed enhanced masses that reached from the bilateral cavernous sinus to within the bilateral orbits. The tumours extended along the lines of the bilateral oculomotor nerves. The patient's serum level of IgG4 was high, 147 mg/dl. A biopsy specimen showed inflammatory cell-rich lesions against a collagenous stroma. Immunostaining revealed infiltration of CD138-positive plasma cells, which were mainly IgG and IgG4 positive. The IgG4/IgG ratio was greater than 0.4. These factors led us to a diagnosis of IgG4-related IPTs. Oral administration of prednisolone (30 mg/day) was started 3 months after the operation and continued for 6 months with gradual tapering. The tumour was significantly reduced by prednisolone.

Pupil-involving third nerve palsy as a manifestation of anti-myelin-associated glycoprotein neuropathy.

A 56-year-old man developed a pupil-involving left third nerve palsy. Imaging studies of the brain and intracranial vessels were normal. Neurological examination demonstrated a sensory polyneuropathy and mild distal weakness. Nerve conduction studies showed prolonged distal motor latencies. An enzyme-linked immunosorbent assay test detected high titers of anti-myelin-associated glycoprotein (MAG) antibodies. The patient improved with prednisone and rituximab treatment. Anti-MAG neuropathy should be considered when evaluating a patient with an undiagnosed cranial neuropathy, especially in the setting of a sensory neuropathy.

Antineutrophil cytoplasmic antibody-associated vasculitis with oculomotor nerve palsy.

We report a patient with antineutrophil cytoplasmic antibody-associated vasculitis with oculomotor nerve palsy. The patient presented with a high fever, diplopia, blepharoptosis and impairment of ocular movement of the left eye except for lateral gaze. Multiple erythematous and livedoid lesions were observed on the forehead, both cheeks and both legs. Laboratory examination showed positive results for myeloperoxidase antineutrophil cytoplasmic antibodies. Skin biopsy revealed leucocytoclastic vasculitis of the small arteries in the lower dermis. The patient was successfully treated with systemic corticosteroids.

A rare cause of reversible unilateral third nerve palsy.

CASE REPORT: A 59-year-old Chinese male presented in January 2007 with acute left retro-orbital headache, diplopia and left partial ptosis. Isolated left third nerve palsy was diagnosed. Imaging studies and cerebral angiography excluded a posterior communicating artery aneurysm. Anti-nuclear (titre 1/800, speckled pattern), anti-PR3, anti-Ro and anti-La antibodies were present. Sjogren's syndrome (SS) was considered in view of positive anti-Ro and La antibodies, and was confirmed with focal lymphocytic infiltrates on labial salivary gland biopsy and a positive Schirmer's test (6 mm of tear flow over 5 min). Immunosuppressive therapy was started 2 months after his initial presentation and within 2 weeks, the patient experienced an almost complete recovery of both ptosis and diplopia. He has been on tapering doses of prednisolone since and his condition remains stable. CONCLUSION: This patient has cranial neuropathy secondary to Sjogren's syndrome. The rapid reversibility of the oculomotor nerve palsy with immunosuppression suggests lymphocytic infiltration or autoantibodies as the cause rather than a vasculitic process, which would have led to irreversible or slowly, partially reversible ischaemic damage.

Adie's pupils in paraneoplastic ganglionopathy with ANNA-1.

Autonomic disturbances are common in patients with paraneoplastic syndromes associated with type-1 antineuronal nuclear autoantibodies (ANNA-1), although pupillary disturbances are infrequent. The authors describe a patient with ANNA-1 associated paraneoplastic sensory neuronopathy and bilateral Adie's pupils.

Potential role of anti-GAD antibodies in abnormal eye movements.

Glutamic acid decarboxylase (GAD) catalyzes the conversion of glutamic acid to gamma-aminobutyric acid (GABA). Autoantibodies directed against GAD (antiGAD-Ab) have been described in patients with insulin-dependent diabetes mellitus, stiff-man syndrome, and in a few patients with progressive cerebellar ataxia. The presence of these autoantibodies suggests an autoimmune pathophysiological mechanism for the neurological manifestations in these disorders. However, the exact role of antiGAD-Ab and GABAergic neurotransmission in the pathogenesis of the neurological manifestations, particularly in progressive cerebellar ataxia, is not fully understood. The cases of two patients with subacute cerebellar ataxia associated with antiGAD-Ab presenting with abnormal eye movements are reported. One patient presented a periodic alternating nystagmus (PAN), whereas the other presented a downbeat nystagmus (DBN) and slow vertical saccades. The potential role of antiGAD-Ab and the resultant GABAergic neurotransmission deficit in oculomotor manifestations is discussed.

Neuro-ophthalmology and paraneoplastic syndromes.

PURPOSE OF REVIEW: To describe the neuro-ophthalmological manifestations of paraneoplastic syndromes and their immunological associations. RECENT FINDINGS: Neuro-ophthalmological signs and symptoms are usually present in paraneoplastic syndromes of the central nervous system. Unlike opsoclonus, less characteristic eye movement abnormalities are difficult to recognize as presenting symptoms of paraneoplastic syndromes. In this setting, the detection of several antibodies, including anti-Hu, Yo, Ma2, Ri, Tr, CV2/CRMP5 or voltage-gated calcium channel antibodies may help to establish that the neuro-ophthalmological disorder is paraneoplastic. Among the recently characterized antibodies, those against the Ma proteins often associate with brainstem encephalitis and vertical gaze paralysis. A small subset of patients with opsoclonus and ataxia harbor anti-Ri antibodies. In other patients, there is preliminary evidence that the autoantigens of opsoclonus reside in the postsynaptic density, but no dominant antibody marker has been identified. Uveitis and optic neuritis are rare accompaniments of paraneoplastic encephalomyelitis; some of these patients harbor anti-CV2/CRMP5 in association with other antibodies. Studies on paraneoplastic retinopathy indicate that immunity to retinal proteins other than recoverin can result in a similar syndrome to that associated with recoverin antibodies, and that melanoma-associated retinopathy may associate with several retinal antibodies. SUMMARY: There is increasing recognition of an extensive variety of neuro-ophthalmological abnormalities as manifestations of paraneoplastic syndromes and of several antineuronal antibodies as clinical markers of these disorders. Basic immunological studies support the pathogenic role of some of these antibodies, and are elucidating the pathogenic mechanisms that underlie these and other antibody-associated paraneoplastic syndromes.

Partial oculomotor nerve palsy associated with elevated anti-galactocerebroside and anti-GM1 antibodies.

An 11-year-old girl had a painless oculomotor nerve palsy confined to the inferior division. Anti-galactocerebroside and anti-GM1 antibodies were elevated during the acute phase and decreased to normal limits with clinical improvement, suggesting a possible autoimmune basis for this mononeuropathy.