Only anti-GM4 antibody positivity in a Chinese girl with overlapping MFS/GBS: a case report.

BACKGROUND: Guillain-Barré syndrome (GBS), as the most common cause of acute flaccid paralysis worldwide, is considered a part of a clinical spectrum in which discrete, complete, or incomplete forms of GBS and overlapping syndromes lie on the basis of their clinical features. The term overlapping Miller Fisher syndrome (MFS)/GBS is used when patients with MFS also suffer from progressive motor weakness of the limbs. Anti-ganglioside GQ1b has been specifically associated with MFS and ophthalmoplegia. CASE DESCRIPTION: Here, we report a Chinese girl who was diagnosed with overlapping MFS/GBS showing acute flaccid paralysis of all four limbs, sensory symptoms, cranial nerve dysfunction, autonomic involvement, ophthalmoplegia, and ataxia. She had high serum and cerebrospinal fluid titres of monospecific anti-GM4 IgG antibody instead of anti-GQ1b antibody in the acute phase. CONCLUSION: Anti-GM4 antibodies usually coexist with other antiganglioside antibodies, leading to missed diagnoses. The findings of the present study show that antibodies to ganglioside GM4 may in overlapping MFS/GBS as the lone immunological factors.

The spectrum of anti-GQ1B antibody syndrome: beyond Miller Fisher syndrome and Bickerstaff brainstem encephalitis.

INTRODUCTION: Since the initial identification of Miller Fisher syndrome (MFS) and Bickerstaff brainstem encephalitis (BBE),significant milestones have been achieved in understanding these diseases.Discoveries of common serum antibodies (IgG anti-GQ1b), antecedent infections, neurophysiological data, andneuroimaging suggested a shared autoimmune pathogenetic mechanism rather than distinct pathogenesis, leadingto the hypothesis that both diseases are part of a unified syndrome, termed "Fisher-Bickerstaff syndrome". The subsequent identification of atypical anti-GQ1b-positive forms expanded the classification to a broader condition known as "Anti-GQ1b-Antibody syndrome". METHODS: An exhaustive literature review was conducted, analyzing a substantial body of research spanning from the initialdescriptions of the syndrome's components to recent developments in diagnostic classification and researchperspectives. RESULTS: Anti-GQ1b syndrome encompasses a continuous spectrum of conditions defined by a common serological profilewith varying degrees of peripheral (PNS) and central nervous system (CNS) involvement. MFS and BBE represent theopposite ends of this spectrum, with MFS primarily affecting the PNS and BBE predominantly involving the CNS.Recently identified atypical forms, such as acute ophthalmoparesis, acute ataxic neuropathy withoutophthalmoparesis, Guillain-Barré syndrome (GBS) with ophthalmoparesis, MFS-GBS and BBE-GBS overlap syndromes,have broadened this spectrum. CONCLUSION: This work aims to provide an extensive, detailed, and updated overview of all aspects of the anti-GQ1b syndromewith the intention of serving as a stepping stone for further shaping thereof. Special attention was given to therecently identified atypical forms, underscoring their significance in redefining the boundaries of the syndrome.

Retrospective analysis of COVID-19 patients with Guillain-Barre, Miller-Fisher, and opsoclonus-myoclonus-ataxia syndromes-a case series.

BACKGROUND: In accordance with the rising number of SARS-CoV­2 infections, reports of neurological complications have also increased. They include cerebrovascular diseases but also immunological diseases such as Guillain-Barre syndrome (GBS), Miller-Fisher syndrome (MFS), and opsoclonus-myoclonus-ataxia syndrome (OMAS). While GBS and MFS are typical postinfectious complications, OMAS has only recently been described in the context of COVID-19. GBS, MFS, and OMAS can occur as para- and postinfectious, with different underlying pathomechanisms depending on the time of neurological symptom onset. The study aimed to describe clinical features, time between infection and onset of neurological symptoms, and outcome for these diseases. METHODS: All COVID-19 patients treated in the neurological ward between January 2020 and December 2022 were screened for GBS, MFS, and OMAS. The clinical features of all patients, with a particular focus on the time of onset of neurological symptoms, were analyzed. RESULTS: This case series included 12 patients (7 GBS, 2 MFS, 3 OMAS). All GBS and one MFS patient received immunomodulatory treatment. Three patients (2 GBS, 1 OMAS) had a severe COVID-19 infection and received mechanical ventilation. In patients with OMAS, only one patient received treatment with intravenous immunoglobulin and cortisone. The remaining two patients, both with disease onset concurrent with SARS-COV­2 infection, recovered swiftly without treatment. In all subgroups, patients with concurrent onset of neurological symptoms and COVID-19 infection showed a trend toward shorter disease duration. CONCLUSION: All patient groups displayed a shorter disease duration if the onset of neurological symptoms occurred shortly after the COVID-19 diagnosis. In particular, both the OMAS patients with symptom onset concurrent with COVID-19 showed only abortive symptoms followed by a swift recovery. This observation would suggest different pathomechanisms for immune-mediated diseases depending on the time of onset after an infection.

Clinical characteristics and prognosis of temporary miller fisher syndrome following COVID-19 vaccination: a systematic review of case studies.

BACKGROUND: Miller Fisher syndrome (MFS) is a subtype of Guillain-Barré syndrome (GBS) which is characterized by the three components of ophthalmoplegia, ataxia, and areflexia. Some studies reported MFS as an adverse effect of the COVID-19 vaccination. We aimed to have a detailed evaluation on demographic, clinical, and para-clinical characteristics of subjects with MFS after receiving COVID-19 vaccines. MATERIALS AND METHODS: A thorough search strategy was designed, and PubMed, Web of Science, and Embase were searched to find relevant articles. Each screening step was done by twice, and in case of disagreement, another author was consulted. Data on different characteristics of the patients and types of the vaccines were extracted. The risk of bias of the studies was assessed using Joanna Briggs Institute (JBI) tools. RESULTS: In this study, 15 patients were identified from 15 case studies. The median age of the patients was 64, ranging from 24 to 84 years. Ten patients (66.6%) were men and Pfizer made up 46.7% of the injected vaccines. The median time from vaccination to symptoms onset was 14 days and varied from 7 to 35 days. Furthermore,14 patients had ocular signs, and 78.3% (11/14) of ocular manifestations were bilateral. Among neurological conditions, other than MFS triad, facial weakness or facial nerve palsy was the most frequently reported side effect that was in seven (46.7%) subjects. Intravenous immunoglobulin (IVIg) was the most frequently used treatment (13/15, 86.7%). Six patients received 0.4 g/kg and the four had 2 g/kg. Patients stayed at the hospital from five to 51 days. No fatal outcomes were reported. Finally, 40.0% (4/15) of patients completely recovered, and the rest experienced improvement. CONCLUSION: MFS after COVID-19 immunization has favorable outcomes and good prognosis. However, long interval from disease presentation to treatment in some studies indicates that more attention should be paid to MFS as the adverse effect of the vaccination. Due to the challenging diagnosis, MFS must be considered in list of the differential diagnosis in patients with a history of recent COVID-19 vaccination and any of the ocular complaints, ataxia, or loss of reflexes, specially for male patients in their 60s and 70s.

A Case of Miller Fisher Syndrome with Cerebellar Hypoperfusion.

We report a case of a 76-year-old man with Miller Fisher syndrome presenting with acute ophthalmoplegia and ataxia. Cerebrospinal fluid analysis showed normocytosis with an increased protein level. Serum anti-GQ1b IgG and anti-GT1a IgG antibodies were positive. Based on these results, the patient was diagnosed with Miller Fisher syndrome. He was treated with two courses of intravenous immunoglobulin, which improved his neurological symptoms. Brain perfusion single-photon emission computed tomography showed that cerebellar blood flow was decreased in the acute stage of the disease and improved after treatment. Although the prevailing view is that ataxia in Miller Fisher syndrome patients is of a peripheral origin, this case suggests that cerebellar hypoperfusion contributes to the development of ataxia in Miller Fisher syndrome.

A case of Miller Fisher syndrome with delayed onset peripheral facial nerve palsy after COVID-19 vaccination: a case report.

BACKGROUND: To prevent the spread of the novel coronavirus disease 2019 (COVID-19) infection, various vaccines have been developed and used in a large number of people worldwide. One of the most commonly used vaccines is the mRNA vaccine developed by Moderna. Although several studies have shown this vaccine to be safe, the full extent of its side effects has not yet been known. Miller-Fisher syndrome (MFS) is a rare condition that manifests ophthalmoplegia, ataxia, and loss of tendon reflexes. It is a subtype of Guillain-Barré syndrome and an immune-mediated disease related to serum IgG anti-GQ1b antibodies. Several vaccines including those for COVID-19 have been reported to induce MFS. However, there have been no reports of MFS following Moderna COVID-19 vaccine administration. CASE PRESENTATION: A 70-year-old man was referred to our hospital due to diplopia that manifested 1 week after receiving the second Moderna vaccine dose. The patient presented with restricted abduction of both eyes, mild ataxia, and loss of tendon reflexes. He was diagnosed with MFS based on his neurological findings and detection of serum anti-GQ1b antibodies. The patient was administered intravenous immunoglobulin, and his symptoms gradually improved. Five days after admission, the patient showed peripheral facial paralysis on the right side. This symptom was suggested to be a delayed onset of peripheral facial nerve palsy following MFS that gradually improved by administration of steroids and antiviral drugs. CONCLUSION: There have been no previous reports of MFS after Moderna COVID-19 vaccination. This case may provide new information about the possible neurological side effects of COVID-19 vaccines.

Miller Fisher syndrome following COVID-19 vaccines: A scoping review.

BACKGROUND AND PURPOSE: Miller Fisher syndrome (MFS), a variant of Guillain-Barré Syndrome (GBS), could be underestimated in evaluations of its adverse events (AEs) following COVID-19 vaccination. We aimed to identify and characterize MFS following COVID-19 vaccination. MATERIALS AND METHODS: Relevant studies reported on during the COVID-19 pandemic were identified in the MEDLINE, Embase, and other databases. RESULTS: Nine cases of MFS following COVID-19 vaccination from various regions were included. Unlike MFS following COVID-19 infection, patients with MFS following COVID-19 vaccination frequently presented with anti-GQ1b antibody positivity (44%, 4/9). Unlike GBS following COVID-19 vaccination, only two of nine (22%) cases of MFS following COVID-19 vaccination had developed after viral-vector-related vaccine administration. CONCLUSIONS: Miller Fisher syndrome following COVID-19 vaccination seems to have a different pathophysiology from MFS following COVID-19 infection and GBS following COVID-19 vaccination. This neurological syndrome with a rare incidence and difficulty in diagnosis should be considered an AE of COVID-19 vaccination.

Guillain Barre Syndrome as a Complication of COVID-19: A Systematic Review.

BACKGROUND: In January 2020, the first case of Guillain Barre syndrome (GBS) due to COVID-19 was documented in China. GBS is known to be postinfectious following several types of infections. Although causality can only be proven through large epidemiological studies, we intended to study this association by a thorough review of the literature. METHODS: We searched PubMed, EMBASE, and Google scholar and included all papers with English or Spanish full text and original data of patients with GBS and recent COVID infection. Variables of interest were demographics, diagnostic investigations, and the latency between arboviral and neurological symptoms. Further variables were pooled to identify GBS clinical and electrophysiological variants, used treatments, and outcomes. The certainty of GBS diagnosis was verified using Brighton criteria. RESULTS: We identified a total of 109 GBS cases. Ninety-nine cases had confirmed COVID-19 infection with an average age of 56.07 years. The average latency period between the arboviral symptoms and neurologic manifestations for confirmed COVID-19 cases was 12.2 d. The predominant GBS clinical and electromyography variants were the classical sensorimotor GBS and acute demyelinating polyneuropathy respectively. Forty cases required intensive care, 33 cases required mechanical ventilation, and 6 cases were complicated by death. CONCLUSIONS: Studies on COVID-19-related GBS commonly reported sensorimotor demyelinating GBS with frequent facial palsy. The time between the onset of infectious and neurological symptoms suggests a postinfectious mechanism. Early diagnosis of GBS in COVID-19 patients is important as it might be associated with a severe disease course requiring intensive care and mechanical ventilation.

Miller Fisher syndrome following Pfizer COVID-19 vaccine.

INTRODUCTION: Miller Fisher syndrome (MFS) is a rare variant of Guillain-Barre syndrome characterized by ataxia, areflexia, and ophthalmoplegia. We present a case of MFS following Pfizer COVID-19 vaccine. CASE PRESENTATION: A previously healthy 24-year-old female presented with binocular horizontal diplopia 18 days after receiving the first dose of Pfizer COVID-19 vaccine (Comirnaty®). Anti-ganglioside testing revealed positive anti-GQ1b antibodies. Intravenous immunoglobulins were administered, in a dose of 2 g per kg of body weight over 5 days. On a follow-up exam 3 weeks after the treatment, clinical improvement was noted with normal bulbomotor examination. CONCLUSION: Patients with acute ophthalmoplegia occurring after COVID-19 vaccination should be screened for the presence of anti-GQ1b antibody. If the antibody is present, intravenous immunoglobulin should be administered as it may hasten clinical improvement.

Anti-GQ1b Antibody Syndrome with Visual Impairment: A Retrospective Case Series.

BACKGROUND: Anti-GQ1b antibody syndrome referred to a clinical spectrum characterized by acute onset of ataxia, ophthalmoplegia and areflexia, while visual deterioration was rarely reported in terms of ocular disorders. This study aimed to describe the clinical characteristics of anti-GQ1b antibody syndrome with visual impairment. METHODS: The database at the First Affiliated Hospital of Sun Yat-sen University was searched from 2014 to 2020. Patients with anti-GQ1b IgG were identified and divided into two groups according to the existence of optic neuropathy. Clinical and laboratory data of these subjects between the two groups were collected and analyzed. All patients were followed up by telephone to assess the outcome. RESULTS: A total of 12 patients with seropositive anti-GQ1b antibody were included, 75% of which got antecedent infection. Of these cases, 3 showed visual deterioration accompanied by abnormal orbital magnetic resonance imaging or visual evoked potentials, and the other 9 didn't show any evidence of vision impairment. Patients in the optic neuropathy group presented prominent visual impairments as initial symptoms and were more likely to suffer from facial weakness. There were 4 patients in normal visual acuity group complaining of blurred vision due to intraocular muscle paralysis, which was distinguished by subsequent examination. The combination of glucocorticoids and intravenous immunoglobulin was applied to treat patients with optic neuropathy. CONCLUSIONS: This study provides strong evidence that anti-GQ1b antibody syndrome can exhibit visual impairment, which helps further expand the clinical spectrum of anti-GQ1b antibody syndrome. More attention should be paid to the physical and supplementary ophthalmological examination to explore the pathogenesis and treatment of anti-GQ1b antibody syndrome.

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.

[Unusual forms of inflammatory diseases of the central nervous system]. / Seltene Formen der entzündlichen Erkrankungen des Zentralnervensystems.

BACKGROUND: White matter lesions of the central nervous system (CNS) are frequently encountered on magnetic resonance imaging (MRI) exams. If the morphologic findings, clinical symptoms and laboratory results are not typical for one of the more common inflammatory CNS diseases, the diagnosis may become challenging, which also means that interesting and sometime emotional discussions may arise. OBJECTIVE: While frequent causes of inflammatory CNS diseases were already discussed in a previous article, we now focus on more seldom forms and place attention on morphologic characteristics which may help to find the correct diagnosis.

An Atypical Case of Miller Fisher Syndrome with Multiple Autoimmunity.

Miller Fisher syndrome (MFS) is a rare variant of Guillain-Barré syndrome that is characterised by ataxia, ophthalmoplegia, and areflexia. Its relation with other autoimmune diseases is scarcely found in the literature, and in those few cases, treatment has been especially difficult. We report a case of a 28-year-old woman who presented with ophthalmoplegia and ptosis, later developing facial palsy and hyporeflexia. She had positive GD1a, GT1a, GQ1b antibodies confirming MFS. She also had positive antinuclear and lupus anticoagulant antibodies confirming antiphospholipid syndrome. She had a mild clinical course. MFS can present with multiple autoimmunity; it is unclear if there is cross-reactivity due to myelin damage.

Weakness in both lower limbs for 1 week and blepharoptosis for 3 days in a boy aged 1 year and 7 months. / ç”·æ€§å¹¼å„¿åŒä¸‹è‚¢æ— åŠ›1周伴眼睑下垂3 d.

A boy, aged 1 year and 7 months, was hospitalized due to weakness in both lower limbs and blepharoptosis, which showed progressive aggravation and developed into irregular breathing. Neurological examinations showed lethargy, blepharoptosis, grade 4 muscle strength of both upper limbs, grade 3 muscle strength of both lower limbs, and disappearance of tendon reflex. Laboratory tests revealed albuminocytological dissociation in cerebrospinal fluid, disappearance of H reflex, and positive serum anti-GD1b IgG. The boy was finally diagnosed with Guillain-Barré syndrome (GBS) overlapping with Miller-Fisher syndrome and Bickerstaff brainstem encephalitis. He recovered and was discharged after treatment including immunoglobulin, plasma exchange, and respiratory support. The GBS overlap syndromes in children have strong clinical heterogeneity due to the injury of both peripheral nerve and brainstem, among which anti-GD1b antibody-related GBS overlap syndromes have special clinical manifestations and complex neuroelectrophysiological changes and are thus difficult to diagnose. Nerve conduction velocity tests, especially H reflex test, should be performed for children with weakness in both lower limbs and blepharoptosis.

A unique case of Miller Fisher-Guillain-Barré overlap syndrome in a liver transplant recipient.

Guillain-Barré syndrome (GBS) is an ascending demyelinating polyneuropathy often associated with recent infection. Miller Fisher syndrome represents a variant with predominant facial and cranial nerve involvement, although Miller Fisher and Guillain-Barré overlap syndromes can occur. Guillain-Barré spectrum syndromes have been thought to be rare among solid organ transplant recipients. We describe an immunocompromised patient with a liver transplant who presented with ophthalmoplegia and bulbar deficits. His symptoms rapidly progressed to a state of descending paralysis involving the diaphragm; he then developed acute respiratory failure and eventually developed quadriparesis. Electromyography and a nerve conduction study demonstrated a severe sensorimotor axonal polyneuropathy consistent with Miller Fisher variant Guillain-Barré syndrome. Despite several negative nasopharyngeal swabs for COVID-19 polymerase chain reaction, a serology for SARS-CoV-2 IgG was positive. He was diagnosed with Miller Fisher-Guillain-Barré overlap syndrome with rapid recovery following treatment with plasma exchange. Although Guillain-Barré is a rare complication in solid organ transplant recipients, this case highlights the importance of rapid diagnosis and treatment of neurologic complications in transplant patients. Furthermore, it demonstrates a possible case of neurological complications from COVID-19 infection.

Coexistence of severe developmental delay, epilepsy, and hemangioma in Snijders Blok-Fisher syndrome suggests the presence of a POU3F3-related SNIBFIS endophenotype: A case report.

POU3F3 proteins are eukaryotic transcription factors and contribute to the processes in the development of brain and kidney. Pathogenic POU3F3 variants cause a neurodevelopmental disorder called Snijders Blok-Fisher syndrome (SNIBFIS). This article reports a new SNIBFIS case harboring a novel heterozygous c.1018_1019delCAinsTT (p.Gln340Leu) variant in the POU3F3 gene. This variant affects the α2 helix of POU-S domain and is predicted to be "pathogenic" by multiple in-silico tools. The proband had severe intellectual disability, hypotonia, autistic features, sleep disturbances, and dysmorphic features. The association with epilepsy and hemangioma like two of the three previously reported patients with mutations in the POU-S domain was also a remarkable finding to understand the importance of POU-S domain. This clinical report also highlights the interest of reinterpretation of molecular data and brings a new perspective to the genotype-phenotype relationship in "Snijders Blok-Fisher syndrome".

Very early and early neurophysiological abnormalities in Guillain-Barré syndrome: A 4-year retrospective study.

BACKGROUND AND PURPOSE: In its initial stages, Guillain-Barré syndrome (GBS) is difficult to identify, because diagnostic criteria may not always be fulfilled. With this retrospective study, we wanted to identify the most common electrophysiological abnormalities seen on neurophysiological examination of GBS patients and its variants in the early phases. METHODS: We reviewed the clinical records of patients admitted to our Neurology Unit with a confirmed diagnosis of GBS. The study sample was divided in two subgroups according to whether the neurophysiological examination was performed: within 7 days (very early group) or within 7-15 days (early group). H reflex, F waves, and motor and sensory conduction parameters were judged abnormal if they were outside the normal range for at least two nerves. We evaluated neurophysiological findings in Miller-Fisher syndrome (MFS) separately. RESULTS: The study sample comprised 36 patients. In GBS, the most frequent abnormal neurophysiological parameter was the bilateral absence of the H reflex, followed by F wave abnormalities. Motor conduction parameters were altered in less than 50% of patients, and even less common were sensory nerve action potential reduction and the "sural-sparing" pattern. In MFS, H reflex was absent bilaterally in 100% of patients, followed by a predominant peripheral sensory involvement, whereas motor conduction parameters were frequently normal. CONCLUSIONS: Bilateral absence of the H reflex is the most sensitive parameter in early diagnosis of GBS and its variants.

Miller Fisher syndrome following BNT162b2 mRNA coronavirus 2019 vaccination.

BACKGROUND: The coronavirus disease 2019 (COVID-19) pandemic, caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), began in late 2019. One of the vaccines approved against COVID-19 is the BNT162b2 mRNA COVID-19 vaccine (Pfizer/BioNTech). CASE PRESENTATION: We present the case of a 71-year-old man with no history of the SARS-CoV-2 infection or any recent viral or bacterial illnesses who presented with bilateral oculomotor palsy and limb ataxia after BNT162b2 mRNA COVID-19 vaccination. The diagnosis of Miller Fisher syndrome (MFS) was established based on physical examination, brain magnetic resonance imaging (MRI), cerebrospinal fluid analysis (CSF), and positron emission tomography (PET). There was no evidence of other predisposing infectious or autoimmune factors, and the period from COVID-19 vaccination to the appearance of neurological symptoms was similar to that of other vaccines and preceding events, such as infection. CONCLUSION: Guillain-Barré syndrome (GBS) and its variants after COVID-19 vaccination are extremely rare. Note that more research is needed to establish an association between MFS and COVID-19 vaccines. In our opinion, the benefits of COVID-19 vaccination largely outweigh its risks.

Mother and son cases of Bickerstaff's brainstem encephalitis and fisher syndrome with serum anti-GQ1b IgG antibodies: a case report.

BACKGROUND: Bickerstaff's brainstem encephalitis (BBE) and Fisher syndrome (FS) are immune-mediated diseases associated with anti-ganglioside antibodies, specifically the anti-GQ1b IgG antibody. These two diseases potentially lie on a continuous spectrum with Guillain-Barré Syndrome (GBS). There are some reports of family cases of GBS and fewer of FS. However, there are no reports of family cases of BBE and FS. CASE PRESENTATION: We report a familial case of an 18-year-old son who had BBE and his 52-year-old mother diagnosed with FS within 10 days. The son showed impaired consciousness 1 week after presenting with upper respiratory symptoms and was brought to our hospital by his mother. He showed decreased tendon reflexes, limb ataxia, albuminocytologic dissociation in his spinal fluid, and positive serum anti-GQ1b antibodies. Haemophilus influenzae was cultured from his sputum. He was diagnosed with BBE and treated with intravenous immunoglobulin (IVIg) therapy, which led to an improvement in symptoms. The mother presented with upper respiratory symptoms 3 days after her son was hospitalized. Seven days later, she was admitted to the hospital with diplopia due to limited abduction of the left eye. She showed mild ataxia and decreased tendon reflexes. Her blood was positive for anti-GQ1b antibodies. She was diagnosed with FS and treated with IVIg, which also led to symptomatic improvement. CONCLUSIONS: There are no previous reports of familial cases of BBE and FS; therefore, this valuable case may contribute to the elucidation of the relationship between genetic predisposition and the pathogenesis of BBE and FS.

Characteristics of pupil palsy in miller-fisher syndrome: case reports and review of the literature.

Pupil palsy has been a frequent finding in Miller Fisher syndrome (MFS), but its clinical characteristics have not been clearly defined. The basis for differential diagnosis with other diseases with pupil palsy has also remained vague. We report cases of four MFS patients with bilateral pupil palsy and specify pupil characteristics of light-near dissociation (LND), cholinergic super-sensitivity, vermiform movements, and prognosis. We conducted a literature review to compare with our cases and investigate common findings of pupil palsy in MFS patients. We suggest that the acute generalized pupil palsy without vermiform movements can serve as a key finding for the diagnosis of pupil palsy associated with MFS. However, the presence of LND and cholinergic super-sensitivity was not distinctive clinical findings in MFS patients who had pupil palsy and did not prove useful for differential diagnosis. The prognosis of pupil palsy in MFS patients was good in our 4 cases and the literature review.