Evaluation of pediatric patients presenting with acute-onset unilateral transient acquired blepharoptosis.

PURPOSE: To evaluate the clinical features of pediatric patients with acute-onset, unilateral transient acquired blepharoptosis. METHODS: In this retrospective study, the clinical records of patients between April 2015 and June 2020 were reviewed for evaluation of demographic features, accompanying neurological and ophthalmologic manifestations, symptom duration, etiological cause, and imaging findings. Patients with congenital and acquired blepharoptosis with chronic etiologies were excluded. RESULTS: Sixteen pediatric patients (10 boys and 6 girls) with acquired acute-onset unilateral transient blepharoptosis were included in this study. The patients' mean age was 6.93 ± 3.16 years. The most commonly identified etiological cause was trauma in 7 patients (43.75%) and infection (para-infection) in 5 patients (31.25%). In addition, Miller Fisher syndrome, Horner syndrome secondary to neuroblastoma, acquired Brown's syndrome, and pseudotumor cerebri were identified as etiological causes in one patient each. Additional ocular findings accompanied blepharoptosis in 7 patients (58.33%). Blepharoptosis spontaneously resolved, without treatment, in all the patients, except those with Miller Fisher syndrome, neuroblastoma, and pseudotumor cerebri. None of the patients required surgical treatment and had ocular morbidities such as amblyopia. CONCLUSION: This study demonstrated that acute-onset unilateral transient blepharoptosis, which is rare in childhood, may regress without the need for surgical treatment in the pediatric population. However, serious pathologies that require treatment may present with blepharoptosis.

Ataxia and ophthalmoplegia: an atypical case of Miller Fisher syndrome (MFS) with anti-GAD antibody.

BACKGROUND: Miller Fisher syndrome (MFS) is frequently encountered variant of Gillian Barre Syndrome (GBS). It has distinct clinical and serological features. Here we describe an atypical GQ1b seronegative case with significantly elevated anti-glutamic acid decarboxylase antibody (GAD-Ab). CASE DESCRIPTION: A 24-year-old previously healthy Caucasian male presented with rapidly progressive ascending weakness, binocular diplopia and autonomic instability for 2 days. Examination was remarkable for asymmetrical facial weakness (L > R), opthalmoplegia and truncal ataxia without areflexia. MRI brain was normal. CSF analysis showed elevated protein. Electromyography/Nerve Conduction Study (EMG/NCS) within the first week was normal. Antiganglioside antibodies were negative. Extended serological and neoplastic workup revealed negative anti-GQ1b antibody, but significant increase of GAD-Ab, Voltage Gated Calcium Channel (VGCC) Ab, and mild elevation of TPO Ab IgG and Thyroglobulin (Tg) Ab IgG. Clinical diagnosis of partial MFS was made. He received a course of IVIg (2 g/kg over 5 days) and had complete recovery in 3 months. CONCLUSION: There are incomplete or atypical forms of MFS. Recognition of its various clinical presentations is essential for early diagnosis and optimal management. Further investigation is needed to elucidate the role of anti-GAD-ab and other autoimmune antibodies in the pathogenesis of GQ1b-seronegative MFS patients.

Masquerading Guillain-Barré syndrome: uncommon, in-hospital presentation of Miller-Fisher syndrome shadowed by secondary diseases.

Presentation of severe pain syndromes prior to onset of motor weakness is an uncommon but documented finding in patients with Guillain-Barré syndrome (GBS). Sciatica in GBS is a difficult diagnosis when patients present with acute radiculopathy caused by herniated disc or spondylolysis. A middle-aged woman was admitted for severe low back pain, symptomatic hyponatraemia, vomiting and constipation. On further investigation, she was diagnosed with radiculopathy, and appropriate treatment was initiated. Brief symptomatic improvement was followed by new-onset weakness in lower limbs, which progressed to involve upper limbs and right extraocular muscles. With progressive, ascending, new-onset motor and sensory deficits and laboratory evidence of demyelination by Nerve Conduction Study, a diagnosis of variant GBS was made. She was treated with intravenous immunoglobulin 2 g/kg over 5 days. The presentation of severe low back pain that was masking an existing aetiology and possible dysautonomia and the unilateral right extraocular muscles instead of bilateral make our case unique and rare.

Síndrome de Miller Fisher: relato de caso / Miller Fisher syndrome: case report

A síndrome de Miller Fisher é uma desmielinização dos nervos cranianos e periféricos, gerando graves consequências para o paciente, como, por exemplo, redução ou ausência dos reflexos, paralisia do III, IV e VI nervos cranianos e ataxia. Este relato descreveu o caso de uma mulher de 51 anos, natural e procedente de Penápolis (SP), admitida em um hospital de Araçatuba (SP) com quadro de arreflexia, ataxia e oftalmoplegia. No contexto clínico, foi suspeitada a hipótese de síndrome de Miller Fisher e, assim, começou o processo de investigação, com base nos critérios diagnósticos. O caso foi diagnosticado como síndrome de Miller Fisher, e o tratamento teve início.

Miller Fisher Syndrome is a demyelinating disease affecting cranial and peripheral nerves, leading to severe problems to the patient, such as reduced or absent reflexes, III, IV and VI cranial nerves palsy, and ataxia. This report describes the case of a 51-year-old woman from the city of Penápolis, in the state of São Paulo, who was admitted to the hospital in the city of Araçatuba, in the same state, with ataxia, areflexia and ophthalmoplegia. In the clinical context, the suspicion of Miller Fisher Syndrome was raised, and then investigation ensued for the disease, based on the diagnostic criteria. After evaluation, Miller Fisher Syndrome was confirmed and treatment was started.

SIMULTANEOUS BILATERAL ACUTE ANGLE-CLOSURE GLAUCOMA IN MILLER FISHER SYNDROME.

PURPOSE: To report a case of patient with Miller Fisher syndrome, complicated by simultaneous bilateral acute angle-closure glaucoma in her slightly (+1.5) hyperopic eyes. METHODS: We present a case report of a 71-year-old female patient presenting with total ophthalmoplegia, areflexia, ataxia and bilateral acute angle-closure glaucoma. RESULTS: The initial ocular examination revealed hand motion in the both eyes and oedematic corneas. Initial intraocular pressure was immeasurable high (measurment by Tonopen Avia). Measurement was possible after intravenous Mannitol 20 % infusion on both eyes as 54 and 56 mm Hg, respectively. Local medical therapy of pilocarpine, timolol, dorsolamide and dexamethasone improve intraocular pressure into normal limits within several hours. Prophylactic peripheral Nd-YAG laser iridotomy was performed on a both eyes two days later. Systemic treatment involved plasma exchange and rehabilitation program. Subsequent cataract surgery on both eyes with posterior capsule lens implantation improve the best corrected visual acuity on right eye from 0.5 to 1.0 and the left eye from 0.5 to 0.8, respectively. Intraocular pressure is within normal limits without any glaucoma therapy. Follow up period is three years. CONCLUSIONS: This is the second reported case of patient with Miller Fisher syndrome and simultaneous bilateral acute angle-closure glaucoma and the fifth reported case of Miller Fisher syndrome and acute angle-closure glaucoma. Treatment for both conditions made a very good recovery.

Overlap of Myasthenia Gravis and Miller Fisher Syndrome.

In this case report, we describe a patient with myasthenia gravis (MG) and Miller Fisher syndrome (MFS) overlap. A 69-year-old woman presented with acute bilateral ptosis, ophthalmoplegia, ataxic gait, and areflexia. The MFS diagnosis was confirmed with by a positive anti-GQ1b IgG antibody test result. MG was diagnosed from electrophysiological, edrophonium, and serological test results. Although intravenous immunoglobulin therapy is effective for both diseases, two courses of the therapy did not improve the patient's symptoms. However, steroid therapy was effective. Although the overlap of MG and MFS is very rare, it should be considered in the differential diagnosis of neuro-ophthalmic diseases.

Acute angle-closure glaucoma in a patient with miller fisher syndrome without pupillary dysfunction.

PURPOSE: To report a case of an angle-closure glaucoma in a patient with Miller Fisher syndrome (MFS) without pupillary dysfunction. METHODS: We present a case report of a 75-year-old male presenting with total ophthalmoplegia, complete bilateral ptosis, and gait disturbance. He was diagnosed with MFS without pupillary dysfunction, which precipitated unilateral acute angle-closure glaucoma (AACG) due to complete lid ptosis. RESULTS: The initial ocular examination revealed hand motion in the right eye. Intraocular pressure, as assessed by Goldmann applanation tonometry, was 50 mm Hg, and gonioscopic findings revealed a closed angle on the right eye. After maximal tolerated medical therapy, laser peripheral iridotomy was performed. The unilateral AACG with MFS resolved without further incident. CONCLUSIONS: This is the first reported case of a patient with MFS without autonomic dysfunction and AACG. We believe that pupillary dysfunction or lid ptosis due to neurological disorders may increase the possibility of AACG.

A rare case of complete bilateral ophthalmoplegia and ptosis.

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.

Unusual manifestations in two cases of necrotizing myopathy associated with SRP-antibodies.

Anti-SRP (signal recognition particle) positive necrotizing myopathy is commonly not associated with neoplasms. We demonstrate two histologically confirmed cases with unusual manifestations of anti-SRP positive necrotizing myopathy. A 65-year-old man presented with rapidly progressing weakness and mild difficulties in swallowing and speaking. Screening for underlying disorders revealed a moderately differentiated renal adenocarcinoma. The muscular symptoms partially improved after tumor nephrectomy and prednisone treatment. However, the patient developed pulmonary metastases and died of the sequelae of pneumonia 11 months after the diagnosis of renal cancer. The second patient developed rapidly complete external ophthalmoplegia, severe bulbar dysarthrophonia and dysphagia, bilateral facial palsy, loss of patellar and ankle jerk reflexes, and severe symmetrical tetraparesis of both proximal and distal muscles. CSF showed mildly increased protein levels, neurography axonal impairment of motor nerves. Screening revealed no evidence for infections, ganglioside antibodies, and carcinoma. MRI was normal. The disease course suggested an overlap syndrome of Miller-Fisher-syndrome, axonal Guillain-Barré-syndrome and Bickerstaff brainstem encephalitis. In conclusion SRP antibodies might be found in necrotizing myopathies associated with autoimmune mediated overlap syndromes and neoplasms. The pathomechanism is not clear. Any otherwise unexplained evidence of necrotizing myopathy should prompt the screening for SRP antibodies.

Neuromuscular scoliosis as a sequelae of Guillain-Barré syndrome.

The neuromuscular sequaelae of Guillain-Barré syndrome are well documented in the literature. Persistent distal muscular weakness and loss of peripheral limb reflexes are common in those affected. We report a case of a 14-year-old boy who developed the Miller-Fisher variant of Guillain-Barré syndrome at the age of 8 years. Six years after the acute episode, he had persistent lower limb areflexia and mild weakness. He had also developed a neuromuscular scoliosis. The scoliosis was successfully treated with posterior instrumentation and fusion surgery. Neuromuscular scoliosis is rare following Guillain-Barré syndrome, with no previous reports associated with the Miller-Fisher variant that we are aware of. When evaluating patients post Guillain-Barré syndrome, structural spinal examination is essential to identify rare deformity that may need surgical correction.

Bilateral, acute angle-closure glaucoma associated with Guillain-Barre syndrome variant.

A 55-year-old man presented with bilateral reduced visual acuity, limitation of extraocular movements, areflexia and ataxia. He was diagnosed with Miller Fisher Syndrome, precipitating bilateral simultaneous acute angle closure glaucoma due to autonomic dysfunction. He was subsequently treated for both conditions and made an excellent recovery.

Miller-Fisher syndrome associated with chronic lymphocytic leukemia.

Chronic lymphocytic leukemia (CLL) is a frequent hematological malignancy, with meningeal or peripheral nerve infiltrations being the most commonly encountered neurological complications. In this report, we describe a CLL patient with Miller-Fisher syndrome (MFS) who responded to immune modulation with plasmapheresis. A 47-year-old man diagnosed as B-cell CLL admitted with neutropenic fever. He complained of diplopia and numbness of both arms. Neurological examination revealed a bilateral external ophthalmoplegia, dysphagia, dysarthria, mild shoulder girdle muscle weakness and gait ataxia, accompanied by absent tendon reflexes. Nerve conduction studies were indicative of a predominantly axonal sensori-motor peripheral neuropathy. This association of CLL with MFS had not been previously reported in the literature.

Benign intracranial hypertension: atypical presentation of Miller Fisher syndrome?

Acute ocular paresis, nausea, vomiting, and headaches associated with high intracranial pressure without obvious intracranial pathology are typical features of benign intracranial hypertension. We describe two young children whose presentation, initially suggestive of idiopathic or benign intracranial hypertension, evolved to comprise ophthalmoplegia, ataxia, and areflexia. This triad characterizes Miller Fisher syndrome, a clinical variant of Guillain-Barré syndrome that occurs rarely among children. In both patients, this diagnosis was supported by the clinical course and neurophysiologic findings. Plasma serology was positive for Campylobacter jejuni and anti-GQ1b antibodies in one patient and for antimyelin antibodies in the other. This report of two children with Miller Fisher syndrome presenting with intracranial hypertension adds to the findings for a similar patient treated previously, which raises the question concerning the possible role or contribution of benign intracranial hypertension in Miller Fisher syndrome.

Autoimmune thyroiditis and acquired demyelinating polyradiculoneuropathy.

Guillain-Barrè syndrome (GBS) and Miller-Fisher syndrome (MFS) are variant forms of acquired demyelinating polyradiculoneuropathy. Their concurrence with immune disorders of the thyroid is infrequent. We report on a 7.5-year-old girl in whom a subclinical thyroiditis was concurrently detected to GBS and a 70-year-old woman with Hashimoto's thyroiditis (HT) who had recurrent MFS. Even though autoimmune thyroiditis is associated with many autoimmune disorders more often than would be expected by chance alone, its concurrence with immune disorders of the peripheral nerve is less frequently reported. The calculated coincidental concurrence of acquired demyelinating polyradiculoneuropathy (in both variants, MFS and GBS) and autoimmune thyroiditis (as in the present cases) was extremely low (0.0004%), thus suggesting common pathogenic mediators.

[A case of Miller Fisher syndrome with pharyngeal palsy as an initial symptom].

We report herein a rare case of Miller Fisher syndrome with pharyngeal palsy as an initial symptom. A 68-year-old man admitted to our hospital with pharyngeal palsy two weeks after a respiratory infection. He subsequently developed ataxic gait, paresthesia in the upper limbs and ophthalmoplegia. Double-filtrated-plasmapheresis had been performed four times and all the symptoms subsided within two months. In the acute phase of the disease, the titers of anti-GQ1b and GT1a antibodies were elevated. The titer of anti-GT1a antibody was higher than that of anti-GQ1b antibody. Recently, the activity of serum anti-GT1a antibody has been supposed to be associated with pharyngeal palsy. In the present case, higher titer of anti-GT1a antibody compared with that of anti-GQ1b antibody could possibly cause pharyngeal palsy as an initial symptom of Miller Fisher syndrome.