Causas de ataxia aguda en un hospital de tercer nivel de complejidad / Causes of acute ataxia at a tertiary level hospital

La ataxia es una alteración de la coordinación motora voluntaria y del control postural. Es una entidad poco frecuente en la infancia, siendo la principal causa de ataxia aguda descripta en la bibliografía, de origen inmunológico (post infecciosa), seguida de las intoxicaciones. Para el diagnóstico es fundamental una anamnesis detallada, cronología de los síntomas, antecedentes infecciosos o de contacto con sustancias tóxicas y un examen neurológico completo. El objetivo de nuestro estudio fue analizar retrospectivamente la causa de ataxia aguda como signo neurológico predominante en pacientes que consultaron en el Hospital Juan P. Garrahan. Diseño: Se trata de un estudio descriptivo, observacional, retrospectivo y de corte transversal. Población: niños de 1 a 18 años, con o sin patología previa conocida, que consultaron al servicio de emergencias del hospital por ataxia entre enero de 2013 y octubre de 2018. Método: recolección y análisis de historias clínicas comprendidas en esa fecha, con alteración en la marcha como síntoma de consulta. Resultados: de un total de 237 pacientes, la causa más frecuente de ataxia aguda fue la inmunológica (incluyendo en este grupo a las postinfecciosas y a las no asociadas a infección). Conclusión: En nuestro hospital con tercer nivel de atención, la causa más frecuente de ataxia aguda fue la inmunológica. En segundo lugar, las intoxicaciones y, en tercer lugar, las enfermedades neurológicas. (AU)

Ataxia is a disorder of voluntary motor coordination and postural control, which is rare in childhood. The main cause of acute ataxia described in the literature is immune-mediated inflammation (postinfectious), followed by intoxication. A detailed anamnesis, chronology of symptoms, history of infection or contact with toxic substances, and a complete neurological examination are essential in the diagnostic work-up. The aim of our study was to retrospectively analyze the cause of acute ataxia as a predominant neurological sign in patients who consulted at Hospital Juan P. Garrahan. Study design: A descriptive, observational, retrospective, cross-sectional study was conducted. Study population: children aged 1 to 18 years, with or without known previous disease, who presented to the hospital emergency department for ataxia between January 2013 and October 2018. Method: collection and analysis of medical records from that period of patients with gait disturbance as the reason for consultation. Results: out of a total of 237 patients, the most frequent cause of acute ataxia was immune-mediated inflammation (both post-infectious and noninfectious). Conclusion: In our tertiary care hospital, the most frequent cause of acute ataxia was immune-mediated inflammation. The second most frequent cause was intoxication and the third neurological diseases (AU)

Spontaneous poisoning by Talisia esculenta in cattle / Intoxicação espontânea por Talisia esculenta em bovinos

Talisia esculenta, commonly known as pitombeira, is a tree which fruits are widely consumed by human beings in northeastern Brazil. The aim of this work is to describe the epidemiological, clinical and pathological aspects of two outbreaks of spontaneous poisoning by T. esculenta in cattle in the dry region of Pernambuco, northeastern Brazil. The cases occurred in the municipalities of São Bento do Una and Belo Jardim. From a total of 25 adult cattle, eight become sick after ingest T. esculenta leaves and fruits. Four cattle died until 72 hours after the first clinical signs; which consisted in ataxia, reluctance to walk, tottering, head tremors muscle spasms in the limbs, rigidity of the pelvic limbs with wide base stance position, ruminal atony and, when stressed, presented falls and remained in abnormal positions. Two cattle were necropsied; the only significant finding was the presence of partially digested leaves, barks and seeds of T. esculenta in ruminal contents. Microscopically no lesions were observed. There is no specific therapy for poisoning by T. esculenta leaves. Prophylaxis consists in preventing cattle from gaining access to pasture areas containing the plant.(AU)

Talisia esculenta, popularmente conhecida como pitombeira, é uma árvore cujos frutos são amplamente consumidos por seres humanos no nordeste do Brasil. O objetivo deste trabalho é descrever os aspectos epidemiológicos, clínicos e patológicos de dois surtos de intoxicação espontânea por T. esculenta em bovinos no Agreste de Pernambuco, Nordeste do Brasil. Os casos ocorreram nos municípios de São Bento do Una e Belo Jardim De um total de 25 bovinos adultos, oito adoeceram após consumirem as folhas e frutos de T. esculenta. Quatro morreram em até 72 horas após a observação dos primeiros sinais clínicos; que consistiam em ataxia, relutância em caminhar, andar cambaleante, tremores de cabeça, espasmos musculares nos membros, rigidez dos membros pélvicos com posição de ampla base, atonia ruminal e, quando excitados, apresentavam quedas e permaneciam em posições anormais. Dois bovinos foram necropsiados e o único achado significante foi a presença de folhas, cascas e sementes parcialmente digeridas de T. esculenta no conteúdo ruminal. Microscopicamente não foram observadas lesões. Não existe terapia específica para a intoxicação pelas folhas de T. esculenta. A profilaxia consiste em evitar que bovinos tenham acesso às áreas de pastagem contendo a planta.(AU)

Características clínicas de 63 pacientes con ataxia / Clinical features of 63 patients with ataxia

Background: Ataxia can be classified as genetic, sporadic or acquired. Aim: To report the clinical features of a group of patients with ataxia. Material and Methods: Review of medical records of patients consulting in a specialized center in movement disorders. Those records in which the diagnosis of "ataxia" or "ataxic syndrome" appeared, were selected for the review. Results: Of 4,282 records surveyed, the diagnosis of ataxia appeared in 95. After eliminating repeated or incomplete records, 63 were reviewed. Results: Ataxia was sporadic, genetic and acquired in 27, 22 and 14 patients, respectively. The mean age at presentation for genetic, acquired and sporadic ataxia was 24, 46 and 53 years respectively. All autosomal dominant ataxias were type 3 spinocerebellar ataxia (SCA). Friedrich's ataxia was the most common recessive form. Most sporadic forms of ataxia were multiple system atrophy with predominant cerebellar ataxia (MSA-C) subtype. Conclusions: Considering the heterogeneity of patients with ataxia, we propose a method to approach them.

Gluten and Neuroimmunology. Rare association with Myasthenia Gravis and Literature Review

SUMMARY As the celiac disease (CD), the non-celiac gluten sensitivity (NCGS) has also been associated with several autoimmune manifestations. It is rarely associated with myasthenia gravis (MG). This paper shall introduce the case of a young female patient, initially presenting a peripheral neuropathy framework. During clinical and neurological follow-up, she began to present symptoms of various immune-mediated morbidities. Diseases related to gluten represent a clinical spectrum of manifestations with a trigger in common, the ingestion of gluten. CD is the most well-known and serious disease of the spectrum, also called gluten-sensitive enteropathy. The NCGS is diagnosed from clinical evidence of improvement in symptoms followed by a Gluten Free Diet (GFD) in patients without signs of enteropathy in duodenal biopsy. There are indications that, although rare, with a prevalence of 1 in 5000, myasthenia gravis (MG) may occur more often when CD is also present. Between 13 to 22% of the patients with MG have a second autoimmune disorder. However, it is often associated with dermatomyositis or polymyositis, lupus erythematosussystemic lupus erythematosus, Addison's disease, Guillain-Barré syndrome and juvenile rheumatoid arthritis. Thus, the symptoms of neuromuscular junction involvement may give a diagnostic evidence of this rare association.

Estudo prospectivo das complicações da Doença de Kawasaki: análise de 115 casos / Prospective study of Kawasaki Disease complications: review of 115 cases

OBJETIVO: Chamar a atenção para as complicações, que podem surgir em qualquer fase da Doença de Kawasaki (DK), para os fatores de risco que contribuem para o aparecimento dessas complicações e para as possíveis sequelas da doença, sejam elas transitórias ou permanentes. MÉTODOS: Estudo prospectivo (coorte clínica) realizado entre abril de 2002 e abril de 2009 de 115 pacientes com DK internados no serviço de Reumatologia Pediátrica do Hospital Geral do Distrito Federal. Todos os pacientes foram sequencialmente avaliados com exames clínicos e laboratoriais, ecocardiogramas com Doppler, imitanciometria, potenciais evocados auditivos, avaliação psicológica, exame oftalmológico e, em um paciente com coreia, angiorressonância magnética cerebral. Em todos os pacientes foram aplicados questionários avaliando a possível presença de dificuldades cognitivas, emocionais, comportamentais e sociais. RESULTADOS: Vinte e cinco pacientes (21,7 por cento) apresentaram aneurismas de coronárias. Trinta e oito pacientes (33 por cento) apresentaram perda auditiva neurossensorial durante a doença aguda e subaguda, e 13 pacientes (11,3 por cento) mantiveram a perda auditiva seis meses após a primeira avaliação. Outras complicações observadas foram: paralisia facial em um paciente (0,9 por cento), ataxia na fase aguda e subaguda em 11 pacientes (9,5 por cento), complicações oftalmológicas em 15 pacientes (13,2 por cento), constatando-se uveíte em 13, edema de papila em um paciente e hemorragia conjuntival em outro. Um paciente apresentou coreia (0,9 por cento) sendo que a angioressonância magnética evidenciou alterações compatíveis com isquemia cerebral. Em um paciente constatou-se a presença de aneurisma de aorta torácica (0,9 por cento), e outro apresentou vasculite necrosante que evoluiu com gangrena periférica e perda da ponta da língua (0,9 por cento). Alterações de comportamento durante a convalescença (20 por cento) foi observada em 23 crianças. CONCLUSÃO: A DK pode evoluir com complicações diversas, mesmo meses após a fase aguda da doença, eventualmente resultando em sequelas permanentes. Quanto mais precoce forem o diagnóstico e a intervenção terapêutica com a administração de IgG IV, menor será a ocorrência de complicações. Presença de trombocitose, anemia e de atividade inflamatória elevada e por tempo prolongado são fatores de risco para o aparecimento de complicações.

OBJECTIVE: To draw attention to complications that might arise in any Kawasaki disease (KD) stage, risk factors contributing to the onset of complications and possible transient or permanent disease sequelae. METHODS: Prospective study (clinical cohort) conducted between April 2002 and April 2009 of 115 patients with KD admitted to the Pediatric Rheumatology Clinic of the General Hospital of the Federal District, Brazil. All patients were sequentially assessed with clinical and laboratory examinations, Doppler echocardiography, imitanciometry, auditory evoked potentials, psychological evaluation, ophthalmologic examination and, in one patient with chorea, cerebral magnetic resonance angiography. In all patients, a questionnaire assessing the possible presence of cognitive, emotional, behavioral and social disorders was applied. RESULTS: Twenty-five patients (21.7 percent) had coronary aneurisms. Thirty eight patients (33 percent) had a sensorineural auditory loss during the acute and subacute phases of the disease and 13 patients (11.3 percent) maintained the auditory loss six months after the first assessment. Other complications observed were as follows: facial palsy in one patient (0.9 percent), ataxia in acute and subacute phases in 11 (9.5 percent); 15 patients had ophthalmologic complications (13.2 percent), with uveitis in 13, papilledema in one patient, and conjunctival hemorrhage in another patient. One patient experienced chorea (0.9 percent), with a magnetic resonance angiography showing changes consistent with cerebral ischemia. In one patient, a thoracic aorta aneurism was found (0.9 percent) and another patient had a necrotizing vasculitis progressing to peripheral gangrene and tongue tip loss (0.9 percent). Behavioral changes over convalescence were observed in 23 children. CONCLUSION: KD may progress with several complications even within months of the disease acute phase, eventually resulting in permanent sequelae. The earlier the diagnosis and therapeutic intervention with IV IgG administration are, the lower will be the occurrence of complications; the presence of thrombocytosis, anemia and elevated and extended inflammatory activity are risk factors for complication arising.

Ataxia hemiparética en un infarto lacunar lentículo-capsular con evolución favorable: Algunas consideraciones fisiopatológicas / Hemiparetic ataxia secondary to a lenticulo-capsular infarction with favorable outcome: Report of one case

Hemi paretic ataxia (HA) is a lacunars syndrome that presents with motor deficit and pyramidalism associated to ipsilateral ataxia out of proportion to such deficit. Topography of lesions is wide and acute infarcts have been recognized at the infernal capsule, pons, thalamus, corona radiate and cortex. Symptoms are associated to involvement of pyramidal and corticopontocerebellar tracts. We report a 44-year-old mole presenting with right hemi paresis and severe ataxia. The magnetic resonance imaging showed a sub acute infarction of the left lenticular nucleus and infernal capsule. The patient was treated with physiotherapy, anti platelet agents and statins and was discharged with an evident recovery.

Doença do aniversário com sintomas psiquiátricos e neurológicos / Birthday disease with psychiatric and neurological symptoms

Este caso apresenta uma doença de três semanas, com sintomas psiquiátricos e neurológicos, em uma mulher com 32 anos de idade, que exatamente no 10º aniversário da morte de sua avó, que a havia criado, teve início súbito de uma depressão severa, ansiedade e sintomas dissociativos e conversivos. Apresentou ataxia severa. Recuperou-se rapidamente quando a natureza de sua doença foi esclarecida. Ela e sua família, até então, não tinham consciência desta conexão. A literatura médica sobre a doença do aniversário será apresentada.

The case is presented of a three week illness with psychiatric and neurological symptoms of a 32-years-old woman who on exactly the 10th anniversary of the death of her grandmother, who had reared her, had the sudden onset of severe depressiveness, anxiety and dissociative and conversion symptoms. She had marked ataxia. She recovered quickly when the nature of her illness was clarified. She and her family had until this time been unaware of this connection. The medical literature on anniversary illness is revied.

Vermian metastasis causing truncal ataxia and hydrocephalus as initial presentation of carcinoma stomach.

The common presentation of carcinoma stomach includes haematemesis, malaena and gastric outlet obstruction. Symptoms due to metastases to the liver and lung as part of the disease progression are usually preceded by the detection of a primary in the stomach. Carcinoma stomach, where the primary is silent, and which presents with truncal ataxia and features of hydrocephalus due to isolated metastatic deposit in the cerebellar vermis is exceptionally rare. The prognosis of such patients is poor and the treatment is palliative.

Cerebrotendinous xanthomatosis: a treatable cause of metabolic ataxia.

Cerebrotendinous xanthomatosis is an exceptionally rare condition in Indian subcontinent, however, it is potentially treatable if diagnosed. We present and discuss the clinical presentation and investigations in a case of cerebrotendinous xanthomatosis (CTX).

Psychiatric presentations of vitamin B 12 deficiency.

Vitamin B12 deficiency has been implicated in various psychiatric conditions for a long time. The association could be primary, secondary to the psychiatric disorder, or even just coincidental. However, left untreated, the deficiency can delay or preclude recovery. Hence early recognition is important, especially when the traditional manifestations of B12 deficiency like anaemia, macrocytosis or spinal cord symptoms are not prominent. Three cases are presented here where vitamin B12 deficiency and psychiatric symptomatology were coexistent, and the patients recovered only on a combination of B12 supplementation and psychiatric medication.

Ataxia and deafness in a young male: an unusual aetiology.

We report here a case of 18 year old male with tremors of hands, deafness, tendency to fall while walking, drowsiness and double vision of total duration 1(1/2) years. He had internuclear ophthalmoplegia, broken saccades, hypertonia and hyperreflexia of all four limbs, intention tremors, signs of gait and limb ataxia. Pupillary reactions and fundus examination were normal and signs of meningeal irritation or sensory neurological deficit were absent. MRI head and cervical spine with gadolinium enhancement revealed demyelination as evident from multiple oblong foci isointense on T1-weighted images and hyperintense on T2-weighted and fluid attenuated inversion recovery sequences in corpus callosum, sub-cortical white matter, right thalamus, pons and periaqueductal region of midbrain. Ill-defined linear hyperintense signals were observed in cervical spinal cord. No skeletal abnormality was noted in the skull or cervical spine. Oligoclonal bands were present in the cerebrospinal fluid. Brainstem auditory evoked potentials were abnormal, although visual evoked potentials were in normal range. A diagnosis of primary progressive multiple sclerosis (PPMS) was made fulfilling the revised criteria as laid down. In view of its presentation, it is a unique case of PPMS from India.

Síndrome de Joubert y signo del molar en el conjunto malformativo cerebelo-óculo-renal en dos pacientes / Joubert Syndrome and molar sign in the renal-ocular-cerebelar complex in two patients

El síndrome de Joubert (SJ) es una afección autosómica recesiva caracterizada por taquipnea neonatal episódica, anormalidades oculomotoras (apraxia oculomotora, nistagmus, estrabismo), hipotonía desde el nacimiento con posterior aparición de ataxia, retardo madurativo, deficiencia mental y algunos rasgos faciales distintivos. Es clínicamente heterogéneo presentando algunos pacientes amaurosis congénita de Leber, nefronoptisis y/o enfermedad renal medular quística. Existe igualmente heterogeneidad genética. Las imágenes de resonancia magnética revelan hipoplasia/aplasia de vermis, prominencia y elongación de los pedúnculos cerebelosos superiores y fosa interpeduncular ensanchada, evocando conjuntamente la silueta de una muela o “signo del molar”. También se evidencian alteraciones morfológicas del 4º ventrículo, que adquiere forma de “alas de murciélago”. El SJ es incluido actualmente en el espectro malformativo de síndromes cerebelo-óculo-renales (SCOR). Objetivo: Presentar los casos clínicos de dos pacientes con SJ diagnosticado por hallazgos clínicos y resonancia magnética, y revisar los aportes de las recientes investigaciones genéticas.

Plus minus lid syndrome with ataxia.

Plus minus lid syndrome is an ocular syndrome characterized by unilateral ptosis and contralateral lid retraction. Also when the ipsilateral lid is raised manually, the contralateral retracted lid does not revert. This patient presented with features of plus minus lid syndrome with ataxia due to a vascular mesencephalic lesion.

Childhood ataxia with cerebral hypomyelination (CACH) syndrome: a study of three siblings.

We report a family of three siblings with Childhood Ataxia with Cerebral Hypomyelination. All the siblings presented with early onset cerebellar ataxia beginning around five years of age with mild mental retardation. MRI showed diffuse white matter signal changes in all three patients with cerebellar atrophy while the spectroscopy was abnormal only in the eldest who was the most severely affected. The cases are reported for their rarity as well as for an opportunity of observing this uncommon disease in its stages of evolution in three siblings.

Mitochondrial myopathy presenting as ataxia with dilated cardiomyopathy.

Mitochondrial disorders are multisystem diseases with very heterogeneous clinical manifestations. Common cardiac features include cardiomyopathy and conduction defects. We report a five-year-old boy who presented with signs of congestive cardiac failure and was diagnosed to have dilated cardiomyopathy. Six months later, he developed progressively worsening ataxia, hypotonia, other cerebellar signs, hearing loss, severe sensory peripheral neuropathy and lactic acidosis. Electronmicroscopy of skeletal muscle biopsy was consistent with mitochondrial myopathy.