Neuronopatía sensitiva: Su reconocimiento y tratamiento temprano / Sensory neuronopathy. Its recognition and early treatment

Las neuronopatías o ganglionopatías sensitivas, o enfermedades del ganglio dorsal, representan un subgrupo de enfermedades del sistema nervioso periférico, frecuentemente asociadas a trastornos disinmunes o paraneoplásicos, y a agentes tóxicos. Los pacientes típicamente presentan ataxia temprana, pérdida de los reflejos osteotendinosos y síntomas sensitivos positivos, presentes tanto en partes proximales como distales del cuerpo. Estudiamos retrospectivamente 10 casos con un diagnóstico final de neuronopatía sensitiva. El síntoma de presentación fue el de una neuropatía sensitiva de curso subagudo en todos los casos, con parestesias en el 100% de los casos. Otras manifestaciones fueron: hipoestesia (10/10), ataxia de la marcha (8/10), síntomas autonómicos (3/10) y parestesias periorales (3/10). La electrofisiología mostró un patrón de compromiso sensitivo axonal, con respuestas motoras normales. El diagnóstico final fue neuronopatía sensitiva adquirida en todos, asociada a síndrome de Sjögren en dos, a lupus eritematoso en uno, a artritis reumatoidea en uno, a cáncer en dos (paraneoplásica) e idiopática en cuatro. En los casos paraneoplásicos, los tumores fueron un carcinoma de pulmón de células pequeñas (con anticuerpos anti-Hu positivos) y un carcinoma epidermoide de pulmón. Ocho pacientes fueron tratados con inmunoterapia, con altas dosis de metilprednisolona endovenosa y/o con inmunoglobulina endovenosa; con pobre respuesta en cuatro casos, mejoría neurológica en cinco, y sin cambios en uno. El presente trabajo muestra el patrón clinico y electrofisiológico de las neuronopatías sensitivas subagudas, y la relevancia de un tratamiento temprano.

Sensory neuronopathies or ganglionopathies, or dorsal root ganglion disorders, represent a subgroup of peripheral nervous system diseases, frequently associated with dysinmune or neoplastic disorders and with toxic agents. A degeneration of both central and peripheral sensory proyections is present. Patients typically show early ataxia, loss of deep tendon reflexes and positive sensory symptoms present both in proximal and distal sites of the body. We retrospectively studied 10 cases with a final diagnosis of sensory neuronopathy. Sensory neuropathy was the presenting symptom and the course was subacute in all cases. Paresthesias in upper limbs were a predominant manifestation (100%). Other manifestations included: hypoesthesia (10/10), gait ataxia (8/10), autonomic symptoms (3/10) and perioral paresthesias (3/10). Electrophysiology showed sensory axonal neuronal pattern, with normal motor responses. Final diagnosis was acquired sensory neuronopathy in all patients, associated with Sjögren’s syndrome in 2, with lupus erythematosus in 1, with rheumatoid arthritis in 1, with a cancer in 2 (paraneoplastic) and idiopathic in 4. In paraneoplastic cases, the tumor was small cell lung cancer in 1 (with positive anti-Hu antibodies), and epidermoid lung cancer in the other. Eight patients were treated with immunotherapy, high dose intravenous methylprednisolone and/or intravenous immunoglobulin; with poor response in 4 cases, neurologic improvement in 5, and without any change in 1 patient. The present work shows the typical clinical and electrophysiological pattern of subacute sensory neuronopathy, and the relevance of early treatment.

Síndrome de Bickerstaff: Caso clínico / Bickerstaff syndrome: Case report

El síndrome de Guillain-Barré se define como una polirradiculoneuropatía aguda, de inicio súbito y cuyo origen es, en la mayor parte de los casos, autoinmune. Se manifiesta como un cuadro de parálisis motora fláccida, de tipo ascendente, acompañada de arreflexia, con alteraciones sensitivas o sin ellas. Es la causa más frecuente de parálisis fláccida aguda en niños previamente sanos. Presenta distintas variantes que forman parte de un mismo espectro. Una de ellas es el síndrome de Bickerstaff, caracterizado por ataxia, oftalmoplejía externa asociada a encefalopatía o hiperreflexia. Es importante el diagnóstico precoz a fin de poder instaurar rápidamente medidas de sostén y tratamiento que beneficiarán a aquellos pacientes que progresan hacia un cuadro de mayor gravedad. Presentamos el caso de un niño de 4 años de edad, previamente sano, que presenta cuadro compatible con síndrome de Bickerstaff.

Guillain-Barré syndrome is defined as an acute polyradiculoneuropathy, with sudden onset and its origin being mostly autoimmune. It is characterized by flaccid paralysis, symmetrical and ascending, together with areflexia, with or without sensory disturbances. It is the primary cause of acute flaccid paralysis in previously healthy children. Guillain-Barré syndrome presents different variants as part of the same spectrum. One of this is the Bickerstaff syndrome, characterized by ataxia, encephalopathy, hyperreflexia and external ophthalmoplegia. Early diagnosis is important with the view to establishing an early treatment that will be beneficial for those patients that progress to a more serious illness. We report the case of a 4-year-old boy who was previously healthy, and then presented symptoms that are compatible with Bickerstaff syndrome.

Avances en el tratamiento de las ataxias crónicas / [Therapeutic developments in chronic ataxias].

Autosomal recessive cerebellar ataxias belong to a broader group of disorders known as inherited ataxias. In most cases onset occurs before the age of 20. These neurological disorders are characterized by degeneration or abnormal development of the cerebellum and spinal cord. Currently, specific treatment is only available for some of the chronic ataxias, more specifically those related to a known metabolic defect, such as abetalipoproteinemia, ataxia with vitamin E deficiency, and cerebrotendinous xanthomatosis. Treatment based on a diet with reduced intake of fat, supplementation of oral vitamins E and A, and the administration of chenodeoxycholic acid could modify the course of the disease. Although for most of autosomal recessive ataxias there is no definitive treatment, iron chelators and antioxidants have been proposed to reduce the mitochondrial iron overload in Friederich’s ataxia patients. Corticosteroids have been used to reduce ataxia symptoms in ataxia telangiectasia. Coenzyme Q10 deficiency associated with ataxia may be responsive to Co Q10 or ubidecarenone supplementations. Early treatment of these disorders may be associated with a better drug response.

The fragile x-associated tremor and ataxia syndrome (FXTAS) / A síndrome de tremor e ataxia associada ao X frágil (FXTAS)

FXTAS (Fragile X-associated tremor and ataxia syndrome) is a late- onset neurodegenerative disorder affecting mainly men, over 50 years of age, who are carriers of the FMR1 gene premutation. The full mutation of this gene causes the fragile X syndrome (FXS), the most common cause of inherited mental retardation. Individuals affected by FXTAS generally present intention tremor and gait ataxia that might be associated to specific radiological and/or neuropathological signs. Other features commonly observed are parkinsonism, cognitive decline, peripheral neuropathy and autonomic dysfunction. Nearly a decade after its clinical characterization, FXTAS is poorly recognized in Brazil. Here we present a review of the current knowledge on the clinical, genetic and diagnostic aspects of the disease.

A FXTAS (síndrome de tremor e ataxia associada ao X frágil) é uma doença neurodegenerativa de início tardio que afeta principalmente homens acima dos 50 anos de idade, portadores de pré-mutação do gene FMR1. A mutação completa desse gene é responsável pela síndrome do cromossomo X frágil (SXF), a causa mais comum de deficiência mental herdada. Indivíduos afetados pela FXTAS geralmente apresentam tremor de intenção e ataxia de marcha que podem estar associados a sinais radiológicos ou neuropatológicos específicos. Outras características comumente observadas são parkinsonismo, declínio cognitivo, neuropatia periférica e disfunções autonômicas. Quase uma década após sua caracterização clínica, a FXTAS é mal conhecida por médicos no Brasil. Esta revisão apresenta o conhecimento atual sobre os aspectos clínicos, genéticos e diagnósticos da síndrome.

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.

Ataxia episódica nao familiar possivelmente associada com o uso de nicotina: relato de caso / Non-familial episodic ataxia possibly associated with the use of nicotine: case report

O autor relata um caso clínico de ataxia episódica nao familiar responsiva a acetazolamida, semelhante clinicamente a ataxia episódica tipo 2 (EA-2), no qual a nicotina pode representar ser um possível fator na gênese dos episódios atáxicos

Vertigo y ataxia hereditaria paroxística: respuesta a la acetazolamida / Vertigo and hereditary paroxysmal ataxia: response to acetazolamide

Presentamos una familia con un cuadro de ataxia hereditaria paroxística trasmitida en forma autosómica dominante. Los episodios se caracterizaron por ataques de severa ataxia y vértigo. Los ataques ocurrían tres veces por semana. No había trastornos de conciencia, pero durante las crisis el vértigo hace la deambulación imposible. Entre los ataques los pacientes presentaron exámenes neurológicos normales. La acetazolamida (250-500 mg/día) suprimió prácticamente los ataques. La dramática respuesta a esta terapéutica hace necesario el diagnóstico de este cuadro que tal vez sea más frecuente de lo que se piensa actualmente