Encefalitis de Bickerstaff / Bickerstaff encephalitis

La encefalitis de tallo cerebral es un síndrome que se presenta con alteración del estado de conciencia, oftalmoplejia, ataxia y signos piramidales. Esta condición neurológica rara que fue descrita en 1950 por primera vez, presenta similares características clínicas a Síndrome de Guillain-Barré, por lo que representa un reto diagnóstico para el clínico. En este artículo se presenta el caso clínico de una paciente de 51 años de edad que se presenta con alteración del estado de conciencia, es llevada a unidad de cuidado intensivo de adulto donde se considera el diagnóstico de encefalitis de Bickerstaff, tras un exhaustivo abordaje diagnostico; el cual se describe, al igual que sumanejo y evolución...(AU)

Brain stem encephalitis is a syndrome that presents with altered state of consciousness, ophthalmoplegia, ataxia and pyramidal signs. This rare neurological condition that was described in1950 by The first time, it presents similar clinical characteristics to Guillain-Barré syndrome, which represents a diagnostic challenge for the clinician. This article presents the clinical case of a 51-year-old patient who presents with altered state of consciousness, is taken to the adult intensive care unit where the diagnosis of Bickerstaff encephalitis is considered, after an exhaustive diagnostic approach ; which is described, as well as its management and evolution ... (AU)

Anti-glutamic acid decarboxylase antibody positive neurological syndromes.

A rare kind of antibody, known as anti-glutamic acid decarboxylase (GAD) autoantibody, is found in some patients. The antibody works against the GAD enzyme, which is essential in the formation of gamma aminobutyric acid (GABA), an inhibitory neurotransmitter found in the brain. Patients found with this antibody present with motor and cognitive problems due to low levels or lack of GABA, because in the absence or low levels of GABA patients exhibit motor and cognitive symptoms. The anti-GAD antibody is found in some neurological syndromes, including stiff-person syndrome, paraneoplastic stiff-person syndrome, Miller Fisher syndrome (MFS), limbic encephalopathy, cerebellar ataxia, eye movement disorders, and epilepsy. Previously, excluding MFS, these conditions were calledhyperexcitability disorders. However, collectively, these syndromes should be known as "anti-GAD positive neurological syndromes." An important limitation of this study is that the literature is lacking on the subject, and why patients with the above mentioned neurological problems present with different symptoms has not been studied in detail. Therefore, it is recommended that more research is conducted on this subject to obtain a better and deeper understanding of these anti-GAD antibody induced neurological syndromes.

Miller Fisher syndrome mimicking ocular myasthenia gravis.

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.

Diffuse large B-cell lymphoma presenting as Miller Fisher syndrome.

We report a patient with diffuse large B-cell lymphoma (DLBCL) who initially presented as Miller Fisher syndrome (MFS) responsive to high-dose immunoglobulin treatment. Detailed investigations for the recurrence of neurological symptoms revealed DLBCL that was responsive to chemotherapy. DLBCL should be considered in the differential diagnosis of patients with MFS who have worsening of their neurological condition after initial improvement with conventional therapy.

Síndrome disautonómico de Ross: variaciones de un tema / Disautonomic Ross syndrome: variations about one theme

El síndrome de Ross fue descrito en 1958 como una afección degenerativa del sistema nervioso autónomo definido por la tríada de anhidrosis generalizada, disminución de los reflejos tendinosos y pupila tónica. Desde su descripción inicial se han descrito cerca de cuarenta casos. Comunicamos tres pacientes con variantes de interés que incluyen la presencia de espasmos cíclicos espontáneos del esfínter de iris, el desarrollo conjunto de síndrome de Holmes-Adie en un lado y síndrome Horner posganglionar en el otro, trastornos del desarrollo piloso en el lado de la anhidrosis, alteraciones de la motilidad intestinal, lengua sin papilas gustativas y disfunción sexual.

Ross Syndrome was described in 1958 as a degenerative condition of the autonomic nervous system defined by a triad of generalized anhidrosis, reduction of tendon reflexes and tonic pupil. Since its initial description about 40 cases have been described. We communicate three cases with variants of interest involving the presence of the simultaneous development of syndrome of Holmes-Adie on one side and Horner syndrome in the other, disorders of pilous follicle development on the side of anhidrosis, spontaneous disturbances of intestinal motility, tonque without papillae and sexual dysfunction.

Síndrome de Miller Fisher: considerações diagnósticas e diagnósticos diferenciais / Miller Fisher syndrome: diagnosis considerations and differentials diagnosis

JUSTIFICATIVA E OBJETIVOS: A síndrome de Miller Fisher apresenta a tríade oftalmoplegia, ataxia e arreflexia e, em muitas situações pode ser confundida com a doença de Guillian-Barré ou com a encefalite de Bickerstaff, em que ocorre um acometimento dos níveis de consciência. O objetivo deste estudo foi alertar para o possível diagnóstico de Miller Fisher, uma variante da síndrome de Guillain-Barré, abordando algumas recentes descobertas envolvidas com sua fisiopatologia como também, considerando alguns dos seus principais diagnósticos diferenciais. CONTEÚDO: A presença de anticorpos IgG anti-GQ1b pode ser um mecanismo importante na fisiopatologia da síndrome, porém ainda há controvérsias, desde que a simples presença desses anticorpos não garante o aparecimento da síndrome e alguns nervos em que se encontram depósitos desses anticorpos não apresentam alterações. Infecções respiratórias ou do trato gastrintestinal pregressas podem ser encontradas em 70% dos casos de Miller Fisher o que sugere um processo imunológico com reação cruzada aos agentes etiológicos dessas condições clínicas. CONCLUSÃO: A identificação precoce do quadro e o tratamento com gamaglobulina e/ou plasmaférese pode modificar em muito a evolução do quadro e permitir um prognóstico mais favorável, mesmo que ainda não se saiba o real processo fisiopatológico envolvido nessa doença.

BACKGROUND AND OBJECTIVES: Miller Fisher syndrome comes with ophtalmoplegia, ataxia, and arreflexia and, in many situations, has a similar presentation as Guillain-Barré syndrome or Bickerstaff disease. In this last condition, loss of conscious nessmay be present. In this review we were warning for a possible Miller Fisher syndrome, a Guillain-Barre syndrome variant,showing some news pathophysiology aspects and some differentials diagnosis. CONTENTS: IgG anti GQb1 antibodies can play an important role in the pathophysiology but controversies exist, since the presence of these antibodies does not guarantee the presence of the disease. Some peripheral nerves where antibodies are deposited do not present alterations. Respiratory or gastrointestinal tract infections may precede Miller Fisher in 70% of the cases,suggesting that an immunologic cross reaction can trigger thesyndrome. CONCLUSION: The precocious identification of this clinical picture as well an early treatment with gammaglobulin and or plasmapheresis can deeply modify the progression of the disease and allow a much better prognosis.

Autoimmune mediated neuromuscular junction defects.

PURPOSE OF REVIEW: This review summarizes the recent advances on pathogenesis of antibody-mediated disorders of the neuromuscular junction, and results of studies on clinical assessment and treatments. RECENT FINDINGS: The incidence of myasthenia gravis, particularly in patients older than 50 years, is rising, and this is not solely due to improved disease recognition. It is uncertain how muscle specific tyrosine kinase (MuSK) antibody positive myasthenia gravis results in neuromuscular transmission failure since MuSK antibodies alter neuromuscular junction morphology without altering acetylcholine receptor numbers or turnover. Clinical tools have been developed that allow rapid and reliable disease assessment. The myasthenia gravis composite score addresses items commonly affected in myasthenia gravis, is sensitive to detect clinical change and helps guide the physician in therapy prescription. Immunosuppression remains the mainstay of myasthenia gravis treatment. Other therapies, such as rituximab, are increasingly prescribed for refractory myasthenia gravis, and drugs that inhibit complement are being explored in myasthenia gravis and Guillain-Barré syndrome (GBS). In Lambert-Eaton myasthenic syndrome (LEMS), SOX antibodies help distinguish between tumour and nontumour LEMS. Ganglioside complexes in GBS and Miller-Fisher syndrome are frequently present and are more pathogenic. SUMMARY: Developments in serological assays, particularly of cell-based assays, are continuing to improve the diagnosis and investigation of these conditions. Learning more on pathogenicity has helped us to apply newer therapies.

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.

Miller-Fisher syndrome in a patient with rheumatoid arthritis treated with adalimumab.

Adalimumab is a frequently prescribed TNFalpha inhibitor for treatment of rheumatoid arthritis. We report on a patient who probably developed a Miller-Fisher syndrome after the second injection of adalimumab.

Clinical and immunological spectrum of the Miller Fisher syndrome.

The Miller Fisher syndrome (MFS), characterized by ataxia, areflexia, and ophthalmoplegia, was first recognized as a distinct clinical entity in 1956. MFS is mostly an acute, self-limiting condition, but there is anecdotal evidence of benefit with immunotherapy. Pathological data remain scarce. MFS can be associated with infectious, autoimmune, and neoplastic disorders. Radiological findings have suggested both central and peripheral involvement. The anti-GQ1b IgG antibody titer is most commonly elevated in MFS, but may also be increased in Guillain-Barré syndrome (GBS) and Bickerstaff's brainstem encephalitis (BBE). Molecular mimicry, particularly in relation to antecedent Campylobacter jejuni and Hemophilus influenzae infections, is likely the predominant pathogenic mechanism, but the roles of other biological factors remain to be established. Recent studies have demonstrated the presence of neuromuscular transmission defects in association with anti-GQ1b IgG antibody, both in vitro and in vivo. Collective findings from clinical, radiological, immunological, and electrophysiological techniques have helped to define MFS, GBS, and BBE as major disorders within the proposed spectrum of anti-GQ1b IgG antibody syndrome.

[Collier's sign in Miller Fisher syndrome].

Collier's sign is well known as unilateral or bilateral eyelid retraction due to midbrain lesions. This sign is usually caused by infarction, tumor, multiple sclerosis, neuro-degenerative disease, or encephalitis. We report a case of Miller Fisher syndrome (MFS) which demonstrated Collier's sign. A 54-year-old man developed ophthalmoplegia, ataxia, and areflexia two weeks after common cold-like symptoms. At the same time, bilateral upper eyelid retraction (Collier's sign) was remarkably observed. Serum anti-GQ1b antibody was positive. Albumino-cytologic dissociation was seen at two weeks after onset. We treated him with high dose intravenous immunogloblins (IVIg) for five days. There was remarkable improvement after the administration of IVIg, and there was a complete recovery from his eyelid retraction. All his symptoms of MFS also disappeared. The eyelid retraction of Collier's sign has been reported to occur with lesions in the rostral midbrain and posterior commissure. Therefore, Collier's sign in this patient suggested central nervous system involvement in the MFS. To our knowledge, this is the first report of MFS associated with Collier's sign.

Immunotherapy of idiopathic inflammatory neuropathies.

Evaluation of peripheral neuropathy is a common reason for referral to a neurologist. Recent advances in immunology have identified an inflammatory component in many neuropathies and have led to treatment trials using agents that attenuate this response. This article reviews the clinical presentation and treatment of the most common subacute inflammatory neuropathies, Guillain-Barré syndrome (GBS) and Fisher syndrome, and describes the lack of response to corticosteroids and the efficacy of treatment with plasma exchange and intravenous immunoglobulin (IVIG). Chronic inflammatory demyelinating polyneuropathy, although sharing some clinical, electrodiagnostic, and pathologic similarities to GBS, improves after treatment with plasma exchange and IVIG and numerous immunomodulatory agents. Controlled trials in multifocal motor neuropathy have shown benefit after treatment with IVIG and cyclophosphamide. Also discussed is the treatment of less common inflammatory neuropathies whose pathophysiology involves monoclonal proteins or antibodies directed against myelin-associated glycoprotein or sulfatide. Little treatment data exist to direct the clinician to proper management of rare inflammatory neuropathies resulting from osteosclerotic myeloma; POEMS syndrome; vasculitis; Sjögren's syndrome; and neoplasia (paraneoplastic neuropathy).

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.