Paraparesia espástica complicada como fenótipo neurológico em OPA1 / Complex spastic paraplegia as a neurological phenotype in an opa1 patient

RESUMO: A atrofia óptica autossômica dominante (ADOA) é uma das formas mais comuns de atrofias ópticas hereditárias, e causada por mutações no gene OPA1. Os pacientes afetados por essa doença geralmente apresentam perda visual na primeira década de vida, podendo apresentar manifestações extraoftalmológicas no decorrer dos anos, configurando uma síndrome chamada OPA1 plus ou ADOA-plus. Objetivos: Relatar caso de paciente portadora da síndrome ADOA-plus, estabelecendo correlações com casos descritos na literatura. Relato de caso: Paciente feminino, 30 anos, foi encaminhada para avaliação de quadro de atrofia óptica progressiva associada a sintomas de neuropatia periférica. Aos dois anos, foi diagnosticada com perda visual parcial em consulta de puericultura. Não relatou outros sintomas associados durante a infância e a adolescência. Aos 20 anos, apresentou dificuldades de deambular, fraqueza em membros inferiores e falta de equilíbrio. Aos 25 anos, após extensa investigação, foi identificada, através de sequenciamento de exoma, mutação patológica no gene OPA1 confirmando o diagnóstico ADOA-plus e iniciado tratamento com Coenzima Q10. Atualmente a paciente relata ataxia sensitiva, diminuição da acuidade visual progressiva, fasciculações e câimbras em MMII, disfagia e dispneia. Discussão: Muitos pacientes com ADOA-plus apresentam surdez neurossensorial como sintoma extraoftalmológico mais comum, além de quadros de parkinsonismo e demência, ataxia e ptose. Paciente relatada constitui um caso de atrofia óptica associado à neuropatia periférica, ataxia e miopatia. Devido à ampla variabilidade clínica dessa doença, deve-se investigar mutações no OPA1 em casos de paraparesia espástica progressiva associada à atrofia óptica, visto que possibilidade de tratamento com Coenzima Q10. (AU)

ABSTRACT: Introduction: Autosomal dominant optic atrophy (ADOA) is one of the most common forms of inherited optic atrophies and is caused by mutations in the OPA1 gene. Patients affected by this disease usually present visual loss in the first decade of life, and may present extra-ophthalmologic manifestations over the years, configuring a syndrome called OPA1 plus or ADOA-plus. Objectives: to report the case of a patient with ADOA-plus syndrome, establishing correlations with cases described in the literature, Case report: a 30-year-old female patient was referred for evaluation of progressive optic atrophy associated with symptoms of peripheral neuropathy. At two years of age, she was diagnosed with partial visual loss during a childcare visit. She reported no other associated symptoms during childhood and adolescence. At the age of 20, she presented with difficulty walking, lower limb weakness, and poor balance. At 25, after extensive investigation, a pathological mutation in the OPA1 gene was identified through exome sequencing, confirming the diagnosis of ADOA-plus, and treatment with Coenzyme Q10 was initiated. Currently the patient reports sensory ataxia, progressive decrease in visual acuity, fasciculations and cramps in the lower limbs, dysphagia and dyspnea. Discussion: Many patients with ADOA-plus present sensorineural deafness as the most common extra-ophthalmologic symptom, in addition to parkinsonism and dementia, ataxia and ptosis. The patient reported is a case of optic atrophy associated with peripheral neuropathy, ataxia and myopathy. Due to the wide clinical variability of this disease, OPA1 mutations should be investigated in cases of progressive spastic paraparesis associated with optic atrophy, since the possibility of treatment with Coenzyme Q10. (AU)

Comparação do conteúdo entre: qualidade de vida e escalas de funcionalidade para a paraparesia espástica não-traumática de acordo com a Classificação Internacional de Funcionalidade, Incapacidade e Saúde / Content comparison: quality of life and functioning scales in non-traumatic spastic paraparesis according to the International Classification of Functioning, Disability, and Health

Objetivo: Identificar instrumentos utilizados para a avaliação funcional de pessoas com lesão medular não-traumática (LMNT) e comparar seu conteúdo de acordo com os conceitos da CIF. Método: A revisão sistemática foi realizada nas bases de dados Medline, Scielo, Pubmed e Bireme com os descritores "paraparesia espástica", "avaliação funcional", "exame neurológico", "escalas neurológicas", "avaliação neurológica" e "medidas de avaliação neurológica". Para encontrar artigos relatando as escalas de avaliação funcional aplicadas em indivíduos com LMNT. O conteúdo de tais instrumentos foi comparado após vinculá-los à CIF. Resultados: A revisão sistemática identificou 12 instrumentos de avaliação funcional de LMNT, foram identificadas 153descrições das categorias da CIF, concentradas principalmente em: funções neuromusculoesqueléticas, digestivas, atividades motoras e autocuidado. Entre os fatores ambientais: a tecnologia assistida para mobilidade, para uso pessoal na vida cotidiana, mereceu maior atenção. Conclusão: Este estudo forneceu um guia para identificar instrumentos para avaliar a funcionalidade de indivíduos com LMNT.

Purpose: Identify instruments used for the functional evaluation of people with Non-traumatic Spinal Cord Injury (NTSP), and compare their contents according to ICF concepts. Method: Literature review was conducted in the Medline, Scielo, Pubmed, and Bireme databases with the descriptors "spastic paraparesis," "functional evaluation," "neurological examination," "neurological scales," "neurological evaluation," and "neurological evaluation measurements," to find articles reporting the functional evaluation scales having been applied on individuals with NTSP. The content of such instruments was compared after linking them to ICF. Results: The systematic review identified 12 instruments for functional evaluation instruments of NTSP, in we described 153 ICF categories, concentrated mainly in: neuromusculoskeletal functions, digestive, motor activities, and self-care. Among the environmental factors: assistive technology for mobility, to personal use in daily life deserved greater attention. Conclusion: This study provided a guide to identify instruments to evaluate the functionality of individuals with NTSP.

Caso Clínico: Paraparesia Espástica Tropical Asociada a Infección por HTLV-1 / Case Report: Spastic Tropical Paraparesis Associated with HTLV-1

INTRODUCCIÓN: La mielopatía asociada al virus linfotrópico de células T humano tipo 1 o llamada comúnmente paraparesia espástica tropical, constituye un síndrome espástico caracterizado por una evolución insidiosa, crónica, lentamente progresiva y muy variable; es considerada por algunos autores como una patología desmielinizante que afecta la médula espinal. CASO CLÍNICO: Paciente de sexo femenino de 53 años de edad, procedente de Manabí y residente en Santo Domingo de los Tsáchilas, que acudió con un cuadro de 10 meses de evolución caracterizado por parestesias en miembro inferior derecho que progresó a temblores, parestesias, hiperalgesia y pérdida de fuerza muscular de las cuatro extremidades más afectación esfinteriana. Se realizaron los estudios necesarios para estudiar las causas más comunes de paraparesia; finalmente, se detectó infección por virus linfotrópico de células T humano tipo I. EVOLUCIÓN: ELa paciente permaneció hospitalizada durante 28 días y fue dada de alta en condiciones estables con los déficits neurológicos previamente establecidos. Se mantuvo en seguimiento durante 4 años posterior al diagnóstico con deterioro progresivo de la fuerza muscular en sus cuatro extremidades hasta la monoplejía con espasticidad de miembro inferior derecho. Se han reportado episodios de disartria y disnea que han remitido espontáneamente. CONCLUSIÓN: La mielopatía asociada a infección por HTLV-1 o paraparesia espástica tropical es una enfermedad de baja prevalencia, debe ser sospechada y estudiada en pacientes con un cuadro crónico de paraparesia, alteraciones sensitivas y disfunción vesical.(au)

BACKGROUND: The human T lymphotropic virus type-I associated myelopathy or also called spastic tropical paraparesis, is a spastic syndrome characterized by a slow progressive, insidious and chronic evolution. It is considered by some authors as a demyelinating spinal cord disease. CASE REPORT: 53-year-old female patient, born in Manabi and residing in Santo Domingo de los Tsáchilas. With 10 months history of right lower limb paresthesias that progressed to tremor, paresthesias, hyperalgesia and four limb muscle weakness plus sphincter disorders. An appropriate workup were performed in order to study the most common causes of paraparesis, infection with HTLV-1 was detected finally. EVOLUTION: The patient remained hospitalized for 28 days; she was discharged in stable conditions with all the prior established neurological deficits. A 4-year follow up was registered after diagnosis; muscle weakness progressed in four limbs causing right lower limb monoplegia. Dysarthria and dyspnea have been also reported, with spontaneous recovery. CONCLUSION: Human T lymphotropic virus type-I associated myelopathy or spastic tropical paraparesis is a low frequency disease, must be suspected and studied in patients with chronic paraparesis with sensory loss and sphincter disorders.(au)

Relação da função vesical e marcha em indivíduos com vírus linfotrópico de células t humana tipo 1 / Relation bet ween vesical function and gait in people with human t-lymphotropic virus type 1

Correlacionar a disfunção da bexiga e a necessidade de assistência na marcha em indivíduos com vírus linfotrópico de células T humana tipo 1. Trata-se de um estudo analítico, observacional e transversal, realizado com 16 pacientes de ambos os sexos, diagnóstico de Paraparesia Espástica Tropical/Mielopatia Associada ao HTLV-1 (PET/MAH) definitivo, avaliados pela Escala Ponderada de Paraplegia Espástica (EPPE) e caracterizados quanto ao grau de auxílio na marcha por meio dos dispositivos utilizados durante a deambulação. Todos os achados foram codificados pela Classificação Internacional de Funcionalidade, Incapacidade e Saúde (CIF); aqueles relacionados à função vesical se converteram para o componente funções do corpo e quanto ao auxílio da marcha para atividade e participação. Utilizaram-se os testes G (Aderência), Qui-quadrado e o de correlação de Spearman para análise estatística (p≤0,05). A maioria apresentou problema ligeiro para função vesical (b6202.1) e nenhuma dificuldade (d465.0) ou moderada (d465.2) para a necessidade de auxílio na marcha. Houve correlação (p=0,009) entre o auxílio na marcha e a função da bexiga. Assim, os códigos da CIF mostraram que quanto maior a dificuldade de locomoção maior é o problema na função da bexiga.

Current analytic, observational and transversal study correlates bladder dysfunction and the need for gait aid in people with human T-lymphotropic virus type 1. Investigation was undertaken with 16 patients of both genders, with a definite diagnosis for Tropical Spastic Paraparesis/Mielopathy, associated with HTLV-1 (PET/ MAH), evaluated by the Spastic Paraplegia Rating Scale (SPRS) and characterized as to help degree in gait by devices employed during walking. Finding were codified by the International Classification for Functionality, Disability and Health (ICF). Findings related to vesical function were converted into component body functions; in the case of gait aid, they were converted into activity and participation. G test (adherence), chi-square and Spearman´s correlation for statistical analysis (p≤0.05) were employed. Most patients had a slight condition for vesical function (b6202.1), with no (d465.0) or only moderate difficulty (d465.2) for gait aid. There was a correlation (p=0.009) between gait aid and bladder function. ICF codes revealed that the greatest the difficulty in locomotion, the biggest the issue in bladder function.

Eficácia e segurança da toxina botulínica no tratamento da paraparesia espástica: revisão sistemática / Efficacy and safety of botulinum toxin in the treatment of spastic paraparesis: systematic review

A paraparesia espástica é caracterizada pela perda de função total ou parcial dos membros inferiores associado ao aumento do tônus muscular velocidade-dependente. A toxina botulínica é utilizada no tratamento de diversos padrões de espasticidade, sejam em flexão, extensão ou adução. Objetivo: determinar a eficácia e segurança do bloqueio químico com toxina botulínica em pacientes com paraparesia espástica. Método: foi realizada uma revisão sistemática com busca nas bases de dados do PUBMED, MEDLINE, LILACS e SCIELO. Os critérios de inclusão foram: ensaios clínicos que utilizaram a toxina botulínica para o tratamento de pacientes com paraparesia espástica e publicados em inglês a partir da década de 1980. Os desfechos considerados foram: a pontuação na Escala de Ashworth Modificada, a amplitude de movimento passiva e ativa e os efeitos adversos da toxina botulínica. Resultados: foram incluídos cinco artigos. Todos mostraram melhora da espasticidade nos pacientes estudados. Quatro artigos mostraram aumento da amplitude de movimento passivo e três relataram aumento da amplitude de movimento ativo. Três artigos trouxeram relatos de efeitos adversos após o uso da toxina botulínica, mas a maioria deles não eram graves e cessaram espontaneamente. Conclusão: os estudos analisados mostraram que a toxina botulínica é eficaz e segura em pacientes com paraparesia espástica.(AU)

Spastic paraparesis is the loss of total or partial lower limb function associated with increased speed-dependent muscle tone. Botulinum toxin is used in the treatment of several spasticity presentations that include flexion, extension and adduction. Objective: To determine both safety and efficacy of botulinum toxin as a blocking agent in the treatment of spastic paraparesis. Method:A systematic review was carried out with a search on PUBMED, MEDLINE, LILACS and SCIELO databases. The inclusion criteria were: clinical trials that used botulinum toxin for the treatment of patients with spastic paraparesis and published in English from the 1980s. The following outcomes were assessed by the studies: the Ashworth Modified scale score, the range of passive and active motion and botulinum toxin adverse effects. Results:Five articles were included. All of them showed spasticity improvements in the patients. Four studies showed increases in passive range of motion and three articles showed increase in active range of motion. Three papers reported adverse effects after botulinum toxin use but they were mostly mild and ceased spontaneously. Conclusion: Most analyzed studies indicated that botulinum toxin is safe and efficient inthe treatment of spastic paraparesis. (AU)

A Man with Adult-onset Progressive Spastic Paraparesis: Genetically Confirmed as Novel Mutation of ABCD1 Gene

Spastic paraparesis is caused by various etiologies such as autoimmune, infection, genetic and metabolic disorder. Adrenomyeloneuropathy (AMN) is very rare but one of important causes in spastic paraparesis. We experienced a patient presenting with adult-onset progressive spastic paraparesis, who was diagnosed as AMN with hemizygous c.431C>T (p.A144V), a novel mutation in exon1. The level of very long chain fatty acid should be included in diagnostic work-up for patients presenting with adult-onset progressive spastic paraparesis.

Infección por el virus linfotrópico humano de células T tipo 1 (HTLV-1) y paraparesia espástica. Avances y diagnóstico 35 años después de su descubrimiento / Human T-lymphotropic virus type 1 (HTLV-1) infection and spastic paraparesis. Advances and diagnosis 35 years after its Discovery / Infecção pelo vírus linfotrópico humano de células T tipo 1 (HTLV-1) e paraparesia espástica. Avanços e diagnóstico depois de 35 anos do seu descobrimento

RESUMEN El virus linfotrópico humano tipo 1 (HTLV-1) genera trastornos como la mielopatía inflamatoria crónica y progresiva conocida como mielopatía asociada al HTLV-1 (MAH), caracterizada por un cuadro clínico de paraparesia espástica. Inicialmente, el virus fue reportado en zonas tropicales y actualmente está presente en diferentes regiones del mundo. El HTLV-1 se puede transmitir tanto horizontal como verticalmente y permanecer latente en los pacientes; se calcula que de 1 % a 5 % de los infectados desarrollan leucemia/linfoma de células T en el adulto (LTA) y de 3 % a 5 %, MAH. Esta revisión, por medio de la búsqueda sistemática en bases de datos, es una compilación de la información más sobresaliente acerca de este retrovirus y la paraparesia espástica, aporta al conocimiento básico de la enfermedad, difunde un problema de salud poco conocido y genera la necesidad de hacer un diagnóstico temprano a fin de intervenir en la cadena de transmisión del virus y evitar su propagación silenciosa en la población.

SUMMARY Human T-lymphotropic virus type 1 (HTLV-1) causes disorders such as chronic inflammatory progressive myelopathy, which is known as HTLV-1associated myelopathy (MAH), characterized by spastic paraparesis symptoms. Originally, the virus was reported in tropical zones and is currently distributed in different regions of the world. HTLV-1 can be transmitted both horizontally and vertically, and remains latent in patients; between 1 % and 5 % of those infected develop adult T cell leukemia/lymphoma (LTA) and 3 % to 5 %, MAH. This review, carried out through systematic search of databases, compiles the most outstanding information about this retrovirus and the spastic paraparesis, provides basic knowledge on the disease, illustrates on an unknown health problem and creates the need for early diagnosis in order to stop the chain of viral infection and prevent its silent propagation among the population.

RESUMO O vírus linfotrópico humano tipo 1 (HTLV-1) gera transtornos como a mielopatia inflamatória crônica e progressiva conhecida como mielopatia associada ao HTLV-1 (MAH), caracterizada por um quadro clínico de paraparesia espástica. Inicialmente, o vírus foi reportado em zonas tropicais e atualmente está presente em diferentes regiões do mundo. O HTLV-1 se pode transmitir tanto horizontal como verticalmente e permanecer latente nos pacientes; calculase que de 1% a 5% dos infectados desenvolvem leucemia/linfoma de células T no adulto (LTA) e de 3% a 5%, MAH. Esta revisão, por meio da pesquisa sistemática em bases de dados, é uma compilação da informação mais sobressalente sobre este retrovírus e a paraparesia espástica, aporta ao conhecimento básico da doença, difunde um problema de saúde pouco conhecido e gera a necessidade de fazer um diagnóstico precoce com o fim de intervir na cadeia de transmissão do vírus e evitar a sua propagação silenciosa na população.

Adrenoleucomielodistrofia como causa de paraparesia espástica en adulto joven. Reporte de caso / Adrenoleukomelodystrophy as a cause of spastic paraparesis in young adult. Case report

La adrenoleucodistrofia ligada al X (X-ALD), trastorno genético progresivo que afecta la sustancia blanca del SNC y la corteza suprarrenal, causa desde insuficiencia adrenal aislada y mielopatia lentamente progresiva hasta desmielinización cerebral devastadora. Presentamos un paciente masculino, 21 años de edad, tabaquista, con trastorno de la marcha de un año de evolución, paraparesia espástica e hiperreflexia en miembros inferiores. El análisis del líquido cefalorraquídeo (LCR) reveló proteinorraquia elevada, resultados negativos de bandas oligoclonales y virus Epstein Barr. Niveles de cortisol, ACTH, ácidos grasos de cadena muy larga en suero, fueron anormales. La RNM cerebral evidenció lesiones en sustancia blanca en región parietooccipital bilateral, comprometiendo el esplenio del cuerpo calloso, que realzaban con gadolinio. En RNM de columna cervical se observó lesión hiperintensa en secuencia T2 a nivel C7. Fue tratado con reemplazo adrenal. Presentamos un caso de X-ALD de inicio en adulto, con retraso en el diagnóstico debido a recursos limitados. Palabras claves: adrenoleucodistrofia ligada al X, paraparesia espástica, ácidos grasos de cadena muy larga, adrenomieloneuropatia

X- Linked adrenoleukodystrophy (X-ALD) is a progressive genetic disorder that affects CNS white matter and adrenal gland cortex, and causes from isolated adrenocortical insufficiency and slowly progressive myelopathy to devastating cerebral demyelination. We present a 21 years old male patient, smoker, with one year history of gradually progressive trouble walking, unsteady gait, asymmetric spastic paraparesis, lower extremity deep tendon reflexes were increased. Cerebrospinal fluid (CSF) analysis revealed elevated CSF protein, CSF oligoclonal bands and Epstein Barr virus negative results. Basal cortisol, ACTH and very-long- chain fatty acids in plasma with abnormal results. All other laboratory tests were normal. Cerebral MRI showed parietooccipital white matter abnormalities involving the splenium of the callosum that enhanced with gadolinium. Cervical spinal cord MRI showed a short-segment T2 hyperintense lesion at C7. He was treated with adrenal replacement. We present a case of adult onset X-ALD and diagnostic delay owed to limited resources

Oculodentodigital Dysplasia Presenting as Spastic Paraparesis: The First Genetically Confirmed Korean Case and a Literature Review

Oculodentodigital dysplasia (ODDD) is a rare autosomal dominant inherited disease caused by mutations of the human gap junction alpha 1 gene, which encodes the protein Connexin-43. Patients with ODDD may present with neurological deficits with a typical pleiotropic combination of characteristic craniofacial, ophthalmological, phalangeal, and dental anomalies. In this report, we describe the first genetically confirmed Korean ODDD patient, who presented with spastic paraparesis. We will also review the neurological aspects of ODDD as reported in the literature.

Idiopathic Spinal Cord Herniation

STUDY DESIGN: Literature review. OBJECTIVES: The aim of this study was to provide insight into idiopathic spinal cord herniation (ISCH) in terms of clinical presentation, pathophysiology, diagnosis, classification, and treatment. SUMMARY OF LITERATURE REVIEW: ISCH is a rare disorder characterized by anterior displacement of the spinal cord through a ventral dural defect. It has increasingly been recognized and described over the past 10 years. MATERIALS AND METHODS: Review of the English-language literature on ISCH. RESULTS: ISCH occurs in middle-aged adults with a female preponderance. The most common clinical presentation is Brown-Sequard syndrome, which can progress to spastic paraparesis. Its pathophysiology is unknown. However, some authors proposed that inflammation may play an important role in the emergence of a dural defect. Magnetic resonance imaging typically shows an anterior kink of the thoracic spinal cord with an obliteration of the ventral subarachnoid space and the widened dorsal subarachnoid space. Surgery is generally recommended for patients with motor deficits or progressive neurological symptoms. The posterior approach has been used because it allows wide exposure of the spinal cord. The surgical treatment of ISCH consists of spinal cord reduction from the ventral dural defect, which can be managed with enlargement, direct repair, or duraplasty (dural repair with a patch). In recent years, duraplasty has been used more frequently than enlargement of the dural defect. CONCLUSIONS: ISCH causing thoracic myelopathy could be safely treated with surgical management. The possibility of this disease should be kept in mind when treating patients with progressive myelopathy.

Cervical Myelopathy Caused by Intracranial Dural Arteriovenous Fistula

Intracranial dural arteriovenous fistula (dAVF) usually results in various problems in the brain. But it can be presented as a myelopathy, which may make early diagnosis and management to be difficult. We recently experienced a case of cervical myelopathy caused by intracranial dAVF. A 60-year-old man presented with a 3-year history of gait disturbance due to a progressive weakness of both legs. Neurological examination revealed spastic paraparesis (grade IV) and Babinski sign on both sides. Magnetic resonance imaging showed serpentine vascular signal voids at C2-T1 on T2-weighted image with increased signal intensity and swelling of spinal cord at C1-C4. We performed a brain computed tomography angiography and found intracranial dAVF with multiple arteriovenous shunts. Venous drainages were noted at tentorial veins and cervical perimedullary veins. After Onyx embolization, the patient showed gradual improvement in motor power and gait disturbance. The venous drainage pattern is a well-known prognostic factor of dAVF. In our case, the intracranial dAVF drained to spinal perimedullary vein, which seemed to result in the ischemic myelopathy. Although it is rare condition, it sometimes can cause serious complications. Therefore, we should keep in mind the possibility of intracranial dAVF when a patient presents myelopathy.

Contribution of Galvanic Vestibular Stimulation for the Diagnosis of HTLV-1-Associated Myelopathy/Tropical Spastic Paraparesis

BACKGROUND AND PURPOSE: Galvanic vestibular stimulation (GVS) is a low-cost and safe examination for testing the vestibulospinal pathway. Human T-lymphotropic virus 1 (HTLV-1)-associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a slowly progressive disease that affects the vestibulospinal tract early in its course. This study compared the electromyographic (EMG) responses triggered by GVS of asymptomatic HTLV-1-infected subjects and subjects with HAM/TSP. METHODS: Bipolar galvanic stimuli (400 ms and 2 mA) were applied to the mastoid processes of 39 subjects (n=120 stimulations per subject, with 60 from each lower limb). Both the short latency (SL) and medium latency (ML) components of the EMG response were recorded from the soleus muscles of 13 healthy, HTLV-1-negative adults (56+/-5 years, mean+/-SD), and 26 individuals infected with HTLV-1, of whom 13 were asymptomatic (56+/-8 years) and 13 had HAM/TSP (60+/-6 years). RESULTS: The SL and ML EMG components were 55+/-4 and 112+/-10 ms, respectively, in the group of healthy subjects, 61+/-6 and 112+/-10 ms and in the HTLV-1-asymptomatic group, and 67+/-8 and 130+/-3 ms in the HAM/TSP group (p=0.001). The SL component was delayed in 4/13 (31%) of the examinations in the HTLV-1-asymptomatic group, while the ML component was normal in all of them. In the HAM/TSP group, the most common alteration was the absence of waves. CONCLUSIONS: A pattern of abnormal vestibular-evoked EMG responses was found in HTLV-1-neurological disease, ranging from delayed latency among asymptomatic carriers to the absence of a response in HAM/TSP. GVS may contribute to the early diagnosis and monitoring of nontraumatic myelopathies.

Adrenomyeloneuropathy Presenting With Adrenal Insufficiency

Adrenomyeloneuropathy (AMN), one of the variants of X-linked adrenoleukodystrophy (ALD), is inherited peroxisomal disorder associated with the accumulation of very long chain fatty acids (VLCFA). AMN is characterized primarily by involvements of long ascending and descending tracts of the spinal cord and peripheral neuropathy, which leads to spastic paraparesis and urinary and erectile dysfunction. We experienced the AMN case of a 33-year-old man presenting bilateral progressive spastic paraparesis, impotence and urge incontinence with primary adrenal failures, as confirmed by increased serum of VLCFA concentrations. Considering that somatosensory evoked potentials in posterior tibial nerve was the only abnormal finding in electrophysiologic findings when compared with the severe spastic gait pattern shown, it is necessary to follow up with electrophysiologic studies.

Neurogenic Bladder in Lyme Disease / 대한배뇨장애요실금학회지

Lyme disease is a multi-systemic, tick-borne infectious disease caused by a spirochete, Borrelia burgdorferi. Various urologic symptoms are associated with Lyme disease, which can be primary or late manifestations of the disease. Although voiding dysfunction is a rarely reported symptom in patients with Lyme disease, it is one of the most disabling complications of Lyme disease. Korea is not an endemic area of Lyme disease, thus, fewer cases have been reported. Herein, we report a case of a 32-year-old man with rapidly progressive bilateral ptosis, dysphagia, spastic paraparesis, and voiding difficulty in whom Lyme disease was diagnosed through serologic tests for antibodies and Western blot testing. A urodynamic study demonstrated detrusor areflexia and bulbocavernosus reflex tests showed delayed latency, indicating demyelination at S2-S4 levels. He received a 4-week course of intravenous ceftriaxone (2 g/day). The patient has recovered from the bilateral ptosis and spastic paraparesis but still suffers from neurogenic bladder.

Utilização do playground por crianças com paralisia cerebral tipo diparética espástica: preferências e dificuldades relatadas pelas mães / Utilization of playground by children suffering from cerebral palsy, spastic diparetic type: preferences and difficulties reported by mothers

Este estudo teve como objetivo investigar como ocorre a utilização do playground por um grupo de crianças com paralisia cerebral tipo diparética espástica segundo relato verbal de suas mães. Participaram da pesquisa dez mães de crianças entre quatro e oito anos, para as quais foi aplicado um questionário contendo perguntas sobre a utilização desse espaço pela criança. Posteriormente foram selecionadas cinco mães, que preenchiam os critérios estabelecidos para o estudo, que era freqüentar o playground regularmente com seu filho. Foi agendada uma entrevista semi-estruturada, realizada pela pesquisadora e gravada em fita cassete. As mães relataram freqüentar playgrounds de parques públicos com seus filhos, ressaltando que as crianças reagiam bem aos estímulos oferecidos pelos brinquedos, apresentando pouca dificuldade nos relacionamentos sociais. Referiram também ter sido pouco orientadas sobre os benefícios do playground por profissionais que atuam na área do desenvolvimento. O desempenho das crianças mostrou que este ambiente pode ser favorável ao desenvolvimento motor e social, proporcionando os estímulos vestibulares, proprioceptivos e táteis, semelhantes àqueles oferecidos na terapia de integração sensorial. Espera-se apontar uma nova alternativa de estimulação para a criança com paralisia cerebral no ambiente natural do playground, proporcionando melhor desenvolvimento motor, cognitivo e social.

The aim of this study was to investigate how does the use of the playground by a group of children with spastic diparetic cerebral palsy, according to their mothers' verbal report. Ten mothers of children between four and eight years participated of this research and answered a questionnaire with questions about the child performance in the playground space. Subsequently, five mothers were selected to participate in another phase of the study, which consisted in regularly attend the playground with their children. The data was collected in a semi-structured interview, conducted by the researcher and recorded on audiotape. Mothers reported frequenting public parks with playgrounds for their children, stating that the children reacted well to the stimuli offered by the toys, presenting little difficulty in social relationships and refer that they have been little counseling on the benefits of the playground by professionals who working in development. Children's performance showed that this environment may be conducive to the motor and social development, providing the vestibular, proprioceptive and tactile stimulus, like those offered on sensory integration therapy. It is hoped an alternative propose of stimulation for the child with cerebral palsy in the natural environment of the playground, providing a better motor development, cognitive and social development.

Xantomatosis cerebrotendinosa. A Propósito de un Caso / Cerebrotendinous xanthomatosis. A case report

La xantomatosis cerebrotendinosa (XCT) es un raro desorden del almacenamiento de los lípidos, que se transmite en forma autosómica recesiva y se caracteriza por el depósito de colesterol y colestanol en diferentes tejidos, con preferencia por los tendones, los cristalinos y el sistema nervioso central. El diagnóstico de la enfermedad se confirma con la presencia de β–colestanol en sangre y de alcoholes biliares en orina. Obedece a una mutación del gen CYP27A1 (responsable de la síntesis de la enzima esterol 27-hidrolasa) que mapea en el brazo largo del cromosoma 2. Se manifiesta clínicamente por un deterioro neurológico progresivo, además de la presencia de xantomas tendinosos, cataratas juveniles, arterioesclerosis y diarrea crónica. Las alteraciones aparecen en las primeras dos décadas de la vida, pero el diagnóstico definitivo suele hacerse tardíamente (entre la tercera y la cuarta décadas). La terapéutica consiste en la administración de ácido quenodesoxicólico asociado a pravastatina o simvastatina. El tratamiento temprano y prolongado podría detener la progresión de la enfermedad. Se presenta un paciente de 40 años con esta enfermedad y se hace una descripción actualizada de la misma.

Transverse myelitis associated with chronic viral hepatitis C

HCV infection could cause several extra hepatic diseases including mixed cryoglobulinemia, Peripheral neuropathy is the most common complication of mixed cryoglobulinemia. In addition to cryoglobulinemia's neuropathy, transverse myelitis had been related to had infection. But causality of this association is not clearly established. A 55-year-old man presented with motor deficiency in lower extremities and urinary retention Neurological exams showed a spastic paraparesis and proprioceptive ataxia. Spinal MRI revealed a contrast enhancing signal abnormality within the spinal cord extending from Levels C3 to CS. Serology hepatitis C and viremia were positive. Clinical diagnosis of acute demyelinating sensorimotor polyneuropathy associated to chronic hepatitis C was etablished. Screening of HCV infection must be done in patients with transverse myelitis and no clear aetiology

Spastic Paraparesis With Bilateral Corticospinal Tract High Signal Intensities in the Brain MRI

No abstract available.

Dolor neuropático y espasticidad abdomino-crural secundario a lesion medular torácica: manejo con neuromodulación / Neuropathic pain and abdominal-crural spasms following a thoracic bone marrow lesion: management includes the use of neuromodulation

Las funciones o disfunciones de las vías del dolor periféricas y centrales pueden originar un cuadro álgico distinto al nociceptivo, mucho menos frecuente pero igualmente importante, que se describe como dolor neuropático. Este dolor neuropático no es una enfermedad propiamente dicha, es una manifestación de múltiples y variados trastornos que afectan al sistema nervioso central y a sus componentes somatosensitivos. El dolor neuropático puede aparecer en trastornos del sistema nervioso central y, especialmente, en lesiones medulares, esclerosis múltiple y lesiones cerebrovasculares del tronco del encéfalo y el tálamo. El dolor neuropático, que se origina en lesiones del sistema nervioso central, no suele responder a la estimulación medular. Se presenta el caso de un paciente que padece una lesión tumoral dorsal (hemangioma) a nivel torácico con paraparecia espástica secundaria y dolor neuropático no controlado de 7 meses de evolución, al cual se le instala un sistema de neuromodulación, que logra controlar el dolor y la recuperación del paciente.

Lesions or malfunctions of peripheric and central pain pathways may cause algid clinical manifestations, and despite being much less frequent, are equally important. These are described as neuropathics pain. This neuropathic pain is not in itself a disease, but a manifestationof multiple and varied disorders that affect the central nervous system and its somatosensitive components. Neuropathic pain may be associated to disorders of the central nervous system and specially in bone marrow lesions, multiplesclerosis, and brain vascular lesions of the brain trunk and thalamus. Neuropathic pain that results from damages of the central nervous system does not usually respond to bone marrow stimulation. This is the case of a patient with a dorsal tumour lesion (hemangioma) at thoracic level with secondary spastic parapareis and uncontrolled neuropathic pain present for a period of 7 months to which a neuromodulation system is installed in order to control pain and recover the patient, finally accomplishing the two objectives.

Neurobrucellosis: a rare cause for spastic paraparesis

A 41 year old man presented to the outpatient department with a three month history of difficulty in walking. He also had a history of positive sensory symptoms in the form of pins and needle sensation mostly below the waist. His symptoms had been progressive and there was no significant family history. He demonstrated a spastic gait and could only walk with assistance and support. DTR were hypertonic and sensory deficit was observed below twelfth dorsal vertebra. Sphincter abnormalities were present. Plantars were extensor bilaterally. Cerebral and spinal MRI with contrast was unremarkable. Brucella antigen titers were significantly high. CSF report was consistent with neurobrucellosis. After detailed analysis of his history, clinical picture and investigations the diagnosis of neurobrucellosis was made. Combined antimicrobial therapy was started, his neurologic condition gradually improved and he was able to walk without help after three months of treatment. Hence this case showed that neurobrucellosis may present as acquired progressive spastic paraparesis and it should always be borne in mind in patients with spastic paraparesis.