Trochlear-oculomotor synkinesis: another congenital cranial dysinnervation disorder? / Sincinesia troclear-oculomotora: outro distúrbio congênito de denervação craniana?

ABSTRACT This report documents an unusual phenomenon. A 6-year-old girl with trochlear-oculomotor synkinesis presented with superior oblique and palpebral levator co-contraction. The literature was reviewed and the possibility of classifying this entity as a congenital cranial dysinnervation disorder was speculated.

RESUMO Este relato descreve um fenômeno incomum. Uma menina de 6 anos com sincinesia troclear-oculomotora apresentou co-contração do oblíquo superior e do levantador da pálpebra. A literatura foi revisada e especulou-se a possibilidade de classificar essa desordem como um distúrbio da congenital cranial dysinnervation disorder.

Espectro das anormalidades óculo-palpebrais na paralisa supranuclear progressiva (PSP) ao exame à beira-do-leito / The ocular-eyelid spectrum abnormalities in progressive supranuclear palsy (PSP) in the bedside examination

As alterações da motilidade ocular compõem um dos pilares do complexo sintomático da Paralisia Supranuclear Progressiva. Alguns sinais, tanto oculares quanto palpebrais, podem ser facilmente evidenciados ao exame neuro-oftalmológico à beira-do-leito. Neste artigo os autores ressaltam alguns aspectos óculo-palpebrais que auxiliam no diagnóstico desta curiosa e incomum síndrome parkinsoniana tau-positiva.

The alterations of ocular motility make up one of the pillars of the Progressive Supranuclear Palsy symptom complex. Some signs, both ocular and of the eyelids, can easily be shown during a neuro-ophthalmologic bedside examination. In this article the authors highlight some aspects of motor ocular and eyelid alterations to help diagnose this curious and unusual tau-positive parkinsonian syndrome.

Ataxia espinocerebelar tipo 7 / Spinocerebellar ataxia type 7

O objetivo deste estudo foi verificar possíveis alterações vestibulococleares em um caso de ataxia espinocerebelar tipo 7. O paciente foi encaminhado para o Laboratório de Otoneurologia da Universidade Tuiuti do Paraná e foi submetido aos seguintes procedimentos: anamnese, inspeção otológica, avaliações audiológica e vestibular. Trata-se de indivíduo do gênero feminino, de 34 anos de idade, com diagnóstico genético de ataxia espinocerebelar tipo 7, que referiu desequilíbrio à marcha, dificuldade para falar, cefaléia, tontura e disfagia. Em avaliação audiológica, apresentou limiares auditivos dentro dos padrões de normalidade e curva timpanométrica do tipo "A" com presença dos reflexos estapedianos bilateralmente. No exame vestibular, observou-se presença de nistagmos espontâneo e semi-espontâneo com características centrais, nistagmo optocinético e rastreio pendular alterados e hiperreflexia à prova calórica. Constatamos alterações labirínticas que indicam afecção do sistema vestibular central e evidenciam a importância dessa avaliação. A existência da possível relação entre os achados com os sintomas otoneurológicos apresentados pela paciente nos remete a uma nova questão, ou seja, à importância da aplicabilidade dos exercícios de reabilitação que atuam em estruturas centrais de neuroplasticidade. Eles aceleram e estimulam mecanismos naturais de compensação, que poderão proporcionar ao portador de ataxia um melhor desempenho de suas funções.

The aim of this study was to verify the possible alterations observed in a case of spinocerebellar ataxia type 7. The patient was referred to the Laboratory of Neurotology of Universidade Tuiuti do Paraná (Brazil), and was submitted to the following procedures: anamnesis, otoscopy, auditory and vestibular assessments. The case described is a 34-year-old woman with a genetic diagnosis of spinocerebellar ataxia type 7, who referred imbalance when walking, speech difficulties, headache, dizziness, and dysphagia. The audiological evaluation showed normal hearing thresholds and tympanometric curve type "A", with bilateral presence of stapedius reflex. In the vestibular evaluation, it was observed the presence of spontaneous and gaze nystagmus with central characteristics, altered optokinetic nystagmus and pendular tracking, and hyperreflexia during the caloric test. Labyrinth alterations were found, indicating central vestibular system affection and evidencing the importance of this evaluation. The existence of a possible relationship between the findings and the neurotological symptoms presented by the patient leads us to a new issue, that is, the importance of the applicability of rehabilitation exercises that act in central structures of neuroplasticity. These exercises accelerate and stimulate natural compensation mechanisms, which may provide the patient with ataxia a better performance of its functions.

Joubert syndrome: large clinical variability and a unique neuroimaging aspect / Síndrome de Joubert: grande variabilidade clínica e uma neuroimagem característica

Joubert syndrome (JS) is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g, pigmentary retinopathy, oculomotor apraxia and nystagmus), renal cysts and hepatic fibrosis. Respiratory abnormalities, as apnea and hyperpnea, may be present, as well as mental retardation. At least seven JS loci have been determined and five genes identified. Herein, we report five children, belonging to independent families, with JS: they shared the same typical MRI abnormality, known as molar tooth sign, but had an otherwise quite variable phenotype, regarding mostly their cognitive performance, visual abilities and extra-neurological compromise.

A síndrome de Joubert (SJ) é uma doença hereditária, autossômica recessiva, caracterizada por hipotonia, hipoplasia do vermis cerebelar, anormalidades oculares (p.ex., retinite pigmentar, apraxia oculomotora e nistagmo), cistos renais e fibrose hepática. Anormalidades respiratórias tais como apnéia e hiperpnéia podem estar presentes, assim como deficiência mental. Pelo menos sete loci e cinco genes diferentes associados à SJ já foram identificados. Este artigo relata cinco crianças com SJ, pertencentes a diferentes famílias. Todos os pacientes compartilham a mesma anormalidade típica da RM, conhecida como sinal do dente molar, e apresentam ampla variabilidade clínica em relação ao desempenho cognitivo, comprometimento visual e alterações extra-neurológicas.

Further diffusion tensor imaging contribution in horizontal gaze palsy and progressive scoliosis / Contribuição adicional das imagens por tensores de difusão em paralisia do olhar conjugado horizontal associada a escoliose progressiva

In two siblings with clinical diagnosis of horizontal gaze palsy associated with progressive scoliosis (HGPPS) we could demonstrate by diffusion tensor imaging: (1) An anterior displacement of the transverse pontine fibers; (2) Posterior clumping of the corticospinal, medial lemniscus and central tegmental tracts and of the medial and dorsal longitudinal fasciculi complex; (3) Absent decussation of superior cerebellar peduncle. Those findings can contribute as surrogate markers for the diagnosis.

Em dois irmãos com diagnóstico clínico de paralisia do olhar conjugado horizontal associada a escoliose progressiva, foi possível determinar através de imagens por tensores de difusão: (1) Deslocamento anterior das fibras pontinas transversas; (2) Agrupamento posterior do trato córtico-espinhal, lemnisco medial e trato tegmentar central e complexos dos fascículos longitudinais medial e dorsal; (3) Ausência da decussação dos pedúnculos cerebelares superiores. Tais achados podem contribuir como marcadores para o diagnóstico.

Atrofia cortical posterior / Posterior cortical atrophy. Report of five cases

Posterior cortical atrophy (PCA) is a neurodegenerative syndrome, usually due to Alzheimer's disease. The first symptoms are progressive impairment of visuo spatial (Balint's and Gertsmann's syndromes) or visuo perceptive (visual agnosia, alexia) function. Episodic memory and executive function are spared until later stages. We report two males aged 51 and 55years and three females aged 50, 54 and 56 years, with posterior cortical atrophy. Ophthalmologic study was normal in all. Presenting signs and symptoms were visual ataxia, simultagnosia, agraphia, acalculia, spatial disorientation and unilateral neglect (Balint's and Gerstmann's syndromes). Apperceptive visual agnosia, aphasia, apraxia and alexia were also observed. One female had cortical blindness. Structural images were inconclusive, but PET scan and SPECT disclosed functional impairments in occipitotemporal or occipitoparietal areas.

Correlación clínico-genética en una familia portadora de fibrosis muscular congénita tipo 1 / Clinical and genetic correlation in a family with congenital muscular fibrosis type 1

Objetivo: Correlacionar tipo clínico de fibrosis muscular congénita (CFEOM tipo 1) y falla genética en los miembros afectados en tres generaciones de una familia chilena. Metodología: enrolamiento de portadores de fibrosis muscular congénita tipo clínico 1 (CFEOM 1) según protocolo. Fotografía y video, pedigrí familiar, obtención de muestra de sangre, extracción del DNA linfositario de casos/control, Linkage análisis de DNA. Resultados: Identificación de mutación AD en cromosoma 11, gen KIF21A en todos los afectados en una familia con tres generaciones con CFEOM tipo 1. Codifica proteína motora kinesina, que participa en el desarrollo del III par craneal. Conclusiones: En este tipo de estrabismo la alteración primaria es inervacional y no muscular. Relación entre forma clínica y cromosoma afectado permite caracterizar genéticamente las distintas formas clínicas de la enfermedad. Se propone una clasificación clínica nueva de los estrabismos restrictivos congénitos.

Aim: To correlate a clinical type of congenital muscular fibrosis (CFEOM type 1) with a genetic flaw in the affected members of three generations of a single Chilean family. Methods: Clinical type 1 congenital muscular fibrosis carriers were enrolled according to protocol. For each patient, the following information was collected: Video and pictures, family pedigree, blood samples, case/ control lymphocytes DNA, and DNA linkage analysis. Results: An AD mutation in chromosome 11 was identified. KIF21A gene was found in all affected members of the family over the three generations. It codified The motor protein kinesin, which is involved in the development of the third cranial nerve. Conclusions: In this form of strabismus, the primary dysfunction is innervational rather than muscular. The relationship between the clinical form and the affected chromosome permits identification of the various clinical forms of the disease. We propose a new clinical classification of the congenital restrictive strabismus.

Electron microscopic study on overacting inferior oblique muscles

Overaction of the inferior oblique(IO) muscle is manifested by elevation of the adducted eye and from the clinical point of view there are two types of overaction. The primary type is of unknown cause, whereas the secondary type is usually related to the palsy of the ipsilateral superior oblique or contralateral superior rectus. An ultrastructural study on the overacting IO muscles was performed compared to normal IO muscles by electron microscopy. Of 16 biopsies of overacting IO muscles, four had primary overacting inferior obliques and twelve had secondary overacting inferior obliques due to paralysis of superior oblique muscle. Additional four IO muscle, obtained from patients with intraocular diseases served as control specimens. The most striking abnormalities were aggregations of mitochondria and degenerating mitochondrial profiles and increased vacuolization in primary and secondary overacting muscles. Many muscle fibers were in different stages of atrophy, and hypertrophy and regeneration of muscle fibers were sometimes visible. The results suggest that the primary overacting IO muscle might be the result of a paresis of the superior oblique muscle.