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PURPOSE.: Miller Fisher syndrome (MFS) is a rare immune-mediated neuropathy that commonly presents with diplopia after the acute onset of complete bilateral external ophthalmoplegia. Ophthalmoplegia is often accompanied by other neurological deficits such as ataxia and areflexia that characterize MFS. Although MFS is a clinical diagnosis, serological confirmation is possible by identifying the anti-GQ1b antibody found in most of the affected patients. We report a patient with MFS who presented with clinical signs suggestive of ocular myasthenia gravis but in whom the correct diagnosis was made on the basis of serological testing for the anti-GQ1b antibody. CASE REPORT.: An 81-year-old white man presented with an acute onset of diplopia after a mild gastrointestinal illness. Clinical examination revealed complete bilateral external ophthalmoplegia and left-sided ptosis. He developed more marked bilateral ptosis, left greater than right, with prolonged attempted upgaze. He was also noted to have a Cogan lid twitch. Same day evaluation by a neuro-ophthalmologist revealed mild left-sided facial and bilateral orbicularis oculi weakness. He had no limb ataxia but exhibited a slightly wide-based gait with difficulty walking heel-to-toe. A provisional diagnosis of ocular myasthenia gravis was made, and anticholinesterase inhibitor therapy was initiated. However, his symptoms did not improve, and serological testing was positive for the anti-GQ1b immunoglobulin G antibody, supporting a diagnosis of MFS. CONCLUSIONS.: Although the predominant ophthalmic feature of MFS is complete bilateral external ophthalmoplegia, it should be recognized that MFS has variable associations with lid and pupillary dysfunction. Such confounding neuro-ophthalmic features require a thorough history, neurological examination, neuroimaging, and serological testing for the anti-GQ1b antibody to arrive at a diagnosis of MFS.
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PMID:Miller Fisher syndrome mimicking ocular myasthenia gravis. 2319 Jul 19

Surveillance FDG PET/CT was performed in a 75-year-old woman with history of melanoma and colon cancer. She had rash and erythematous papules on the forearms, elbows, knees, and thighs and then developed right-leg weakness, difficulty with fine motor movement, and ptosis. Chest CT identified a right-lung spiculated nodule. Skin and pulmonary nodule biopsies showed lymphohistiocytic infiltrate with granulomatous features, without lymphoid cells, metastatic carcinoma or melanoma cells, or microorganisms. Epstein-Barr immunostain result was negative, making lymphomatoid granuloma unlikely. The inflammatory process involved the peripheral vasculature on FDG PET, and given the related neuropathy, findings were compatible with granulomatous vasculitis.
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PMID:18F-FDG PET/CT demonstration of diffuse lymphohistiocytic granulomatous vasculitis. 2351 Aug 76

We report the case of a 62-year-old man with sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO). He developed gait disturbance at 54 years of age, muscle weakness at 56 years, and difficulty hearing at 58 years. His brother had muscle weakness in both legs from age 20 years, and was diagnosed with Charcot-Marie-Tooth disease because he had muscle weakness of the four extremities, decreased CMAP and SNAP amplitudes on peripheral nerve conduction tests, and loss of large myelinated fibers and onion-bulb formations on sural nerve biopsy. His brother died aged 46 years, but no accurate cause of death was identified. Neurological examination of the present patient revealed bilateral ptosis, external ophthalmoparesis, dysarthria, dysphagia, sensorineural hearing loss, mild weakness and atrophy of proximal muscles in all four limbs, severe sensory ataxia, and disturbance of deep sensation in his legs. He showed elevation of lactate and pyruvate levels in cerebrospinal fluid and serum. An aerobic exercise test disclosed a marked increase in lactate and pyruvate levels in serum. On nerve conduction study, amplitudes of CMAP and SNAP, and F wave-evoked frequency were decreased. Needle electromyography showed chronic neurogenic patterns with fibrillation potentials in the extremity muscles. Head MRI demonstrated T2 prolonged lesions in the bilateral basal ganglia, while brain MRS revealed a small lactate peak. Biopsy of his left lateral vastus muscle showed ragged-red fibers and group atrophy, and some muscle fibers had decreased cytochrome c activity. Left sural nerve biopsy revealed a marked loss of large myelinated fibers, and some onion-bulb formations. Genetic testing disclosed a large mtDNA deletion in the biopsied muscle. Among nuclear genes, we found point mutations in ANT-1 (exon 1 c.105G>A, 5' untranslated region) and POLG-1 (exon 4, c.1218G>A, p. and exon 23 c.3920C>T, p.A1217V). We diagnosed SANDO. This is the first case of SANDO with large mitochondrial DNA deletions in Japanese.
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PMID:[A case of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis with multiple mitochondrial DNA deletions]. 2352

Thyroid-associated orbitopathy (TAO) is a self-limiting auto-immune condition usually associated with Grave's disease. It is characterised by ocular pain, eyelid swelling, chemosis, proptosis and keratopathy. As the mechanism for ophthamoplegia and optic neuropathy is the orbital swelling leading to mechanical restriction of ocular muscles and compression of optic nerve, one expects proptosis rather than ptosis in TAO. We describe a case of a young adult woman who presented with acute onset restriction of movement along with partial ptosis and severe diminution of vision in left eye. The MRI of orbit revealed significant swelling of recti along with signal alteration consistent with TAO. The radio-isotope thyroid scan revealed thyroiditis, and thyroid peroxidase (TPO) antibody was significantly high; hence, the diagnosis of Hashimoto thyroiditis was considered. A course of intravenous methylprednisolone followed by oral steroid was administered, which produced marked improvement in vision and extraocular movement.
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PMID:Thyroid associated orbitopathy. 2373 89

Sarcoidosis is a multisystem granulomatous disease that may affect various organs. Nevertheless, involvement of the trigeminal nerve is exceedingly uncommon. This report presents a rare case of isolated bilateral trigeminal neuropathy presenting with neurotrophic corneal ulcers. The patient was treated with topical chloramphenicol and lubricants, as well as botulinum toxin injection to the upper eyelid to induce ptosis. Our case illustrates the importance of recognizing that bilateral corneal ulceration might be a manifestation of sarcoidosis. Physicians should be aware of this rare association, when treating sarcoidosis patients with eye related symptoms.
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PMID:Isolated bilateral trigeminal neuropathy in sarcoidosis presenting with neurotrophic corneal ulcers. 2386 15

Sphenoidal sinus mucoceles are indolent lesions that, when sufficiently large, can compress on the optic canal or superior orbital fissure, rapidly causing loss of vision, optic neuropathy, ptosis, pain, ophthalmoplegia, and diplopia. We herein report a 72-year-old gentleman who presented acutely with Cranial Nerve II, III, and IV palsies secondary to a sphenoidal sinus mucocele that was confirmed on magnetic resonance imaging and successfully treated with endoscopic drainage. This cause of orbital apex syndrome is important for clinicians to know as early diagnosis and treatment is critical in recovering visual potential.
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PMID:Sphenoidal mucocele presenting as acute cranial nerve palsies. 2396 Oct 35

Complete dislocation of the globe, inferiorly into the maxillary sinus, medially into the ethmoid sinus, or superiorly into the anterior cranial fossa, can occur with significant blunt facial trauma. The degree of injury to the globe, its adnexal structures, and the optic nerve is dependent on the extent of the dislocation. Complete traumatic subluxation of the globe into the maxillary sinus is associated with severe injury to the periocular structures and represents a challenging and unique reconstructive process rarely encountered in published studies. The present case report represents only the 15th reported case of complete orbital prolapse into the maxillary sinus. Controversy exists regarding the definitive treatment of traumatic globe dislocations, the risk of sympathetic ophthalmia (SO), the sequela of postenucleation socket syndrome, and prophylactic steroid treatment to decrease the incidence of SO and traumatic optic neuropathy.
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PMID:Repositioning of a traumatically displaced globe with maxillary antrostomy: review of the literature and treatment recommendations. 2399 26

We describe the case of an 85-year-old gentleman admitted with bilateral ptosis and complete bilateral ocular paralysis. Initial differential diagnoses included myasthenia gravis, diabetic cranial neuropathy, an ischaemic event and possible occult neoplasm. Investigations did not support any of the differentials and Miller Fisher syndrome (MFS) was considered. Anti-GQ1b IgG antibody was positive, supporting the possibility of anti-ganglioside syndrome. This gentleman was treated with intravenous immunoglobulin (IVIG) and made a full recovery.
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PMID:A rare case of complete bilateral ophthalmoplegia and ptosis. 2399 35

Mydriasis is a rare phenomenon in non-comatose patients, usually caused by toxic agents or oculomotor neuropathy. We describe two patients who presented with mydriasis at the outpatient clinic. The first patient was a 46-year-old woman with mydriasis, headache, ptosis, ophthalmoplegia and transient ataxia after an influenza vaccination. The second was a 47-year-old woman with mydriasis, ophthalmoplegia, ptosis and ataxia after she had used doxycycline for an upper respiratory tract infection. In both patients, GQ1b-antibodies were detected and both were diagnosed with Miller Fisher syndrome. The second patient was treated with immunoglobulins, the other patient improved spontaneously. Miller Fisher syndrome is characterised by a triad of ophthalmoplegia, ataxia and areflexia. An infection or vaccination may give rise to an auto-immune response with GQ1b-antibodies directed against gangliosides in peripheral nerve tissue. The Miller Fisher syndrome has a good prognosis with spontaneous recovery ensuing in most patients. Treatment with immunoglobulins is required in some patients.
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PMID:[Alert patients with mydriasis and fixed pupils]. 2469 Apr 86

A 48-year-old man presented with numbness in fingers and diplopia 1 week after a flu-like illness. He made a full recovery but 8 years later developed progressive and disabling sensory ataxia. He had superimposed acute flare-ups with numbness, double vision and ptosis, all following infections. A blood test showed antidisialosyl antibodies including GD1b, GD3, GT1b and GQ1b in keeping with the diagnosis of chronic ataxic neuropathy, ophthalmoplegia, IgM paraprotein, cold agglutinins and antidisialosyl antibodies (CANOMAD). Initial treatment with monthly courses of intravenous immunoglobulin (IVIg) 0.4 g/kg/day for 5 days every 4 weeks helped temporarily but there were marked disabling fluctuations of symptoms. With IVIg 0.6 g/kg/day weekly his symptoms are stable. He remains mobile and has no eye symptoms without need for any other medication. This case demonstrates that weekly IVIg infusions instead of one 5-day course monthly may be able to avoid fluctuations of symptoms in CANOMAD.
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PMID:CANOMAD responding to weekly treatment with intravenous immunoglobulin (IVIg). 2472 12


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