RESUMEN
BACKGROUND: Hepatic myelopathy is a very rare neurological complication of chronic liver disease. Patients habitually present with progressive pure motor spastic paraparesis. This neurological dysfunction is almost always due to cirrhosis and portocaval shunt, either surgical or spontaneous. CASES REPORT: We report two cases of a 57-year-old man and a 37-year-old woman with progressive spastic paraparesis linked to cirrhosis and portal hypertension. The two patients are of Tunisian origin (north Africa). Magnetic resonance imaging of the spinal cord of two patients was normal, while brain magnetic resonance imaging showed a T2 hypersignals of the pallidums. These signs, in favor of hepatic encephalopathy in the two patients with cirrhosis with isolated progressive spastic paraparesis without bladder or sensory disorders, help to retain the diagnosis of hepatic myelopathy. CONCLUSION: Hepatic myelopathy is a severe and debilitating neurological complication of chronic liver disease. The pathogenesis is misunderstood and seems to be multifactorial, including the selective neurotoxic role both of ammonia and other pathogenic neurotoxins. Usually a pathological brain magnetic resonance imaging showing a hepatic encephalopathy was documented, contrasting with a normal spinal cord magnetic resonance imaging that contributed to diagnosis of hepatic myelopathy. Conservative therapies such as ammonia-lowering measures, diet supplementation, antispastic drugs, and endovascular shunt occlusion show little benefit in improving disease symptoms. Liver transplantation performed at early stage can prevent disease progression and could probably allow for recovery.
Asunto(s)
Encefalopatía Hepática , Cirrosis Hepática , Imagen por Resonancia Magnética , Enfermedades de la Médula Espinal , Humanos , Femenino , Persona de Mediana Edad , Masculino , Encefalopatía Hepática/etiología , Adulto , Enfermedades de la Médula Espinal/etiología , Enfermedades de la Médula Espinal/diagnóstico por imagen , Cirrosis Hepática/complicaciones , Paraparesia Espástica/etiología , Hipertensión Portal/etiología , Enfermedad CrónicaRESUMEN
BACKGROUND: Multiple sclerosis (MS) is the most common neurologic disease in young adults. Spasticity is one of its most disabling symptoms, with botulinum toxin A type A (BoNT-A) being one of the treatments of choice for this symptom. OBJECTIVE: We assessed the response to abobotulinumtoxinA in improving walking ability and fatigue in patients with spastic paraparesis caused by MS. METHODS: We performed a real-world, multicenter, prospective, open-label low-intervention trial in 84 patients with MS and spastic paraparesis of the lower limbs infiltrated with abobotulinumtoxinA (LINITOX study). The response of spasticity, walking ability and fatigue is analyzed in 4 cycles of ultrasound-guided injection in the lower limbs. RESULTS: The patients improved their walking ability by an average of 11.34% meters measured with 6-Minute Walk Test (6MWT), and decreased the percentage of fatigue by 6.86% (4.66 percentage points less), in the 12-Item Multiple Sclerosis Walking Scale (MSWS-12) 4 weeks after abobotulinumtoxinA injection, both values are statistically significant. This improvement seems to persist over time, throughout the cycles. CONCLUSION: We found improved walking ability and less fatigue in patients with MS-related spastic paresis of the lower limbs after injection of abobotulinumtoxinA.
Asunto(s)
Toxinas Botulínicas Tipo A , Fatiga , Esclerosis Múltiple , Fármacos Neuromusculares , Paraparesia Espástica , Humanos , Toxinas Botulínicas Tipo A/administración & dosificación , Toxinas Botulínicas Tipo A/uso terapéutico , Femenino , Masculino , Esclerosis Múltiple/complicaciones , Esclerosis Múltiple/tratamiento farmacológico , Adulto , Fármacos Neuromusculares/administración & dosificación , Fármacos Neuromusculares/uso terapéutico , Paraparesia Espástica/tratamiento farmacológico , Paraparesia Espástica/etiología , Persona de Mediana Edad , Estudios Prospectivos , Fatiga/tratamiento farmacológico , Fatiga/etiología , Marcha/efectos de los fármacos , Resultado del TratamientoRESUMEN
Leukodystrophies are a group of rare neurodegenerative disorders, usually presenting in infancy with a variable combination of cognitive, motor, and coordination impairment. Adult-onset cases are even more rare, often representing a diagnostic challenge even for experienced neurologists. Here, we present a case of a 44-year-old man with subacute and rapidly progressive spastic paraplegia, whose brain MRI revealed white matter abnormalities compatible with a diagnosis of leukodystrophy. We discuss how to apply a simplified diagnostic algorithm to distinguish acquired leukoencephalopathies from leukodystrophies and how to delve into the maze of genetic testing for white matter diseases. In our patient, we reached the diagnosis of a treatable disorder, whose early recognition is essential to prevent severe neurologic deterioration.
Asunto(s)
Enfermedades Desmielinizantes , Leucoencefalopatías , Enfermedades por Almacenamiento Lisosomal , Paraparesia Espástica , Adulto , Masculino , Humanos , Paraparesia Espástica/etiología , Paraparesia Espástica/genética , Leucoencefalopatías/genética , Imagen por Resonancia Magnética , Pruebas Genéticas , Enfermedades por Almacenamiento Lisosomal/genética , Enfermedades Desmielinizantes/genética , Razonamiento ClínicoRESUMEN
Mutations in Presenilin-1 (PSEN1) have been found to be associated with very early onset Alzheimer's disease (VEOAD). Here, we reported two patients with VEOAD caused by de novo PSEN1 mutations. A 33-year-old man with a de novo p.F177S mutation in PSEN1 presented with progressive decline in memory and daily function. A 37-year-old woman with a de novo PSEN1 p.L381V mutation presented with onset memory impairment, developed cerebellar syndrome, rigidity, and spastic paraparesis. The Amyloid/Tau/Neurodegeneration (ATN) biomarker profiles of both patients were Aâ+âTâ+â(N)+. Our finding increases the genetic knowledge of VEOAD and extends the ethnic distribution of PSEN1 mutations.
Asunto(s)
Enfermedad de Alzheimer/genética , Mutación , Presenilina-1/genética , Adulto , Edad de Inicio , Enfermedad de Alzheimer/complicaciones , Biomarcadores , Enfermedades Cerebelosas/etiología , Femenino , Predisposición Genética a la Enfermedad , Humanos , Masculino , Paraparesia Espástica/etiologíaRESUMEN
BACKGROUND: This study was aimed at investigating the causes of lower extremity weaknesses after posterior lumbar spine fusion surgery and looking at subsequent treatment strategies. METHODS: Patients who underwent posterior lumbar spine fusion surgery in the Peking University First Hospital between January 2009 and December 2018 were counted. Those who needed secondary surgery because of subsequent lower extremity weaknesses were selected. CT scans and MRIs were used to evaluate the reasons for weaknesses before secondary surgery. Muscle strength was evaluated after surgery. RESULTS: Thirty patients (30/4078, 0.74%) required a secondary surgery because of lower extremity weaknesses after posterior lumbar spine fusion surgery. The main causes of weakness were (1) internal fixation malposition and loosening (11 patients, 36%), (2) epidural hematomas (9 patients, 30%), (3) insufficient decompression (5 patients, 17%), and (4) nerve root edemas (5 patients, 17%). Weakness occurred on average 2.9 days after surgery (1-9 days). Twenty-seven patients (90%) got improved muscle strength after their secondary surgery. CONCLUSIONS: Iatrogenic neurologic deficits and lower extremity weaknesses were rare complications after posterior lumbar spine fusion surgeries, but important to recognize and manage. The main causes of weakness were internal fixation malposition and loosening, epidural hematomas, insufficient decompression, or root edemas. There may be positive, therapeutic effects to subsequent, active surgical exploration.
Asunto(s)
Vértebras Lumbares/cirugía , Paraparesia Espástica/cirugía , Complicaciones Posoperatorias/cirugía , Fusión Vertebral/métodos , Anciano , Femenino , Hematoma Espinal Epidural/complicaciones , Humanos , Fijadores Internos/efectos adversos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Fuerza Muscular , Paraparesia Espástica/diagnóstico por imagen , Paraparesia Espástica/etiología , Paraparesia Espástica/fisiopatología , Complicaciones Posoperatorias/diagnóstico por imagen , Complicaciones Posoperatorias/etiología , Complicaciones Posoperatorias/fisiopatología , Falla de Prótesis/efectos adversos , Reoperación , Fusión Vertebral/efectos adversos , Tomografía Computarizada por Rayos X , Resultado del TratamientoRESUMEN
Hepatic myelopathy or spastic paraparesis of liver disease is an insidious onset condition with pure motor spastic paraparesis without sensory, bladder or bowel involvement in patients with chronic liver disease, in which the neurological dysfunction cannot be explained by other causes. It is a rare, relentlessly progressive and mostly irreversible neurological complication resulting from portosystemic shunts occurring spontaneously, created surgically or due to 'functional shunting'. In some cases, no evidence of shunting is elicitable due to difficulty in locating the hidden collaterals. We report this rare case of a 33-year-old man with chronic liver disease presenting with spastic paraparesis after 11 months of resolution of an episode of hepatic encephalopathy.
Asunto(s)
Encefalopatía Hepática , Cirrosis Hepática Alcohólica , Paraparesia Espástica , Adulto , Amoníaco/sangre , Diagnóstico Diferencial , Progresión de la Enfermedad , Encefalopatía Hepática/diagnóstico , Encefalopatía Hepática/etiología , Encefalopatía Hepática/fisiopatología , Encefalopatía Hepática/terapia , Humanos , Cirrosis Hepática Alcohólica/complicaciones , Cirrosis Hepática Alcohólica/diagnóstico , Masculino , Examen Neurológico/métodos , Paraparesia Espástica/diagnóstico , Paraparesia Espástica/etiología , Paraparesia Espástica/fisiopatología , Paraparesia Espástica/terapia , Manejo de Atención al Paciente/métodos , Pronóstico , Enfermedades de la Médula Espinal/diagnóstico , Enfermedades de la Médula Espinal/etiología , Resultado del TratamientoRESUMEN
Patients with brain injury and spasticity are candidates for intrathecal baclofen therapy (ITB) when maximal doses of oral antispastic drugs fail. Some authors have described an improvement in the level of consciousness in patients with brain injury and disorder of consciousness treated with ITB for spasticity. We present the case of a 43-year-old patient with brain injury, spasticity, and permanent vegetative state (PVS) who showed an improvement in the level of consciousness after ITB for spasticity. We performed an ITB infusion test, assessing the spasticity with the Modified Ashworth Scale (MAS) and level of consciousness with the Coma Recovery Scale-Revised (CRS-R) and observed an improvement in the spasticity and the level of consciousness. Consequently, the ITB pump was implanted and the patient recovered from PVS to minimal conscious state (MCS). We conclude that ITB is indicated in patients with brain injury and spasticity. We suggest the improvement in the level of consciousness as a possible additional benefit. There is a lack of evidence to recommend ITB in patients with altered level of consciousness.
Asunto(s)
Baclofeno/administración & dosificación , Lesiones Encefálicas/complicaciones , Relajantes Musculares Centrales/administración & dosificación , Paraparesia Espástica/tratamiento farmacológico , Estado Vegetativo Persistente/tratamiento farmacológico , Adulto , Estimulantes del Sistema Nervioso Central/administración & dosificación , Estado de Conciencia/efectos de los fármacos , Esquema de Medicación , Femenino , Agonistas de Receptores GABA-B/administración & dosificación , Humanos , Bombas de Infusión Implantables , Inyecciones Espinales , Modafinilo/administración & dosificación , Espasticidad Muscular/tratamiento farmacológico , Paraparesia Espástica/etiologíaRESUMEN
BACKGROUND: Epidermoid cysts are rare benign neoplasms within the neuroaxis and account for <1% of all intraspinal tumors. They can be congenital or acquired. Being a slow-growing tumor, the clinical presentation is widely variable depending on the location, size, or age of the patient. OBJECTIVES: Because of the rarity of this entity, the diagnosis and treatment are often delayed. We wanted to offer an updated overall view on spinal epidermoid cysts to facilitate diagnosis and treatment decisions. METHODS: We present the case of a patient with thoracic intramedullary epidermoid cyst and we conduct a review of reported cases in the literature using PubMed database. RESULTS: From 1962 to September 2019, we gathered 91 articles with a total of 139 cases (ours included). There is a slightly female predominance and a bimodal age distribution. Acquired cysts are seen in 38.1% of patients. The most frequent symptom was pain, followed by motor deficit, sensitive deficits, and sphincter deficiencies. The mean time delay to diagnosis is 26.36 ± 53.29 months. The most common localization was in the lumbar area and one third of the tumors were intramedullary. A good outcome was achieved in most of the treated cases. CONCLUSIONS: To achieve a good outcome, an early recognition of this disease is essential. The management consists in most cases of surgical resection. Although recurrence is low, it can significantly alter the quality of life of our patients, and, therefore, gross total resection should be our goal.
Asunto(s)
Quiste Epidérmico/cirugía , Neoplasias de la Médula Espinal/cirugía , Dolor de Espalda/etiología , Quiste Epidérmico/complicaciones , Quiste Epidérmico/diagnóstico por imagen , Quiste Epidérmico/fisiopatología , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Paraparesia Espástica/etiología , Recuperación de la Función , Neoplasias de la Médula Espinal/complicaciones , Neoplasias de la Médula Espinal/diagnóstico por imagen , Neoplasias de la Médula Espinal/fisiopatología , Vértebras TorácicasRESUMEN
Organophosphorus compounds (OPC) are commonly used pesticides and suicidal ingestion is a common mode of poisoning. The manifestation of OPC poisoning and its severity depend upon the type, dose and potency of the OPC consumed. Neurological presentations are well defined clinical syndromes consisting of early, intermediate and delayed manifestations (rare), categorised on the basis of time elapsed since OPC exposure. We report a rare delayed manifestation of organophosphorus poisoning in the form of pure motor spastic paraparesis due to dorsal myelopathy. A possibility of delayed manifestations of toxicity should be considered in individuals presenting with features suggestive of myelopathy and a previous history of organophosphate exposure.
Asunto(s)
Síndromes de Neurotoxicidad/etiología , Intoxicación por Organofosfatos/complicaciones , Enfermedades de la Médula Espinal/etiología , Humanos , Masculino , Síndromes de Neurotoxicidad/diagnóstico , Paraparesia Espástica/diagnóstico , Paraparesia Espástica/etiología , Enfermedades de la Médula Espinal/diagnóstico , Intento de Suicidio , Adulto JovenRESUMEN
BACKGROUND: Calcified intraspinal epidermoids are a rare entity. We discuss the various pathogenesis and the clinical implication of such a finding during surgery. CASE DESCRIPTION: A 32-year-old female presented with progressive spastic paraparesis with incontinence. Imaging showed an unusual intralesional calcification, which was removed. Postoperatively she had no fresh deficits. CONCLUSIONS: To our knowledge this is the first reported case of spinal intramedullary epidermoid with intralesional calcification.
Asunto(s)
Calcinosis/patología , Quiste Epidérmico/patología , Paraparesia Espástica/patología , Enfermedades de la Médula Espinal/patología , Adulto , Calcinosis/complicaciones , Calcinosis/diagnóstico por imagen , Quiste Epidérmico/complicaciones , Quiste Epidérmico/diagnóstico por imagen , Femenino , Humanos , Imagen por Resonancia Magnética , Paraparesia Espástica/diagnóstico por imagen , Paraparesia Espástica/etiología , Enfermedades de la Médula Espinal/complicaciones , Enfermedades de la Médula Espinal/diagnóstico por imagen , Tomografía Computarizada por Rayos XRESUMEN
BACKGROUND: Intramedullary capillary hemangiomas are rare lesions with only 14 cases reported so far and are found in middle-aged persons. Until now only a single case has been reported in the pediatric population. Ours was the second pediatric case and the youngest of all to be diagnosed with an intramedullary capillary hemangioma. CASE DESCRIPTION: We are reporting the case of a 2-month male child who presented with features of hydrocephalus and spastic paraparesis. On magnetic resonance imaging he had features suggestive of a D10-11 intradural extramedullary lesion and hydrocephalus. We did a ventriculoperitoneal shunt followed by excision of the lesion in the same sitting. Intraoperatively it was found to be an intramedullary lesion, and histopathologic examination showed features suggestive of capillary hemangioma. Postoperatively he recovered well and there is no recurrence 18 months after surgery. CONCLUSIONS: Intramedullary capillary hemangiomas are extremely rare lesions in infants but should be kept in mind while treating any patient with the spinal lesion. Further reporting of similar cases will help in understanding the natural history, pathogenesis, and management.
Asunto(s)
Hemangioma Capilar/complicaciones , Hidrocefalia/etiología , Paraparesia Espástica/etiología , Neoplasias de la Médula Espinal/complicaciones , Hemangioma Capilar/cirugía , Humanos , Hidrocefalia/cirugía , Lactante , Imagen por Resonancia Magnética , Masculino , Paraparesia Espástica/cirugía , Neoplasias de la Médula Espinal/cirugía , Derivación Ventriculoperitoneal/métodosAsunto(s)
Adrenoleucodistrofia , Paraparesia Espástica , Miembro 1 de la Subfamilia D de Transportador de Casetes de Unión al ATP/genética , Adrenoleucodistrofia/complicaciones , Adrenoleucodistrofia/genética , Adrenoleucodistrofia/fisiopatología , Adulto , Humanos , Masculino , Paraparesia Espástica/etiología , Paraparesia Espástica/genética , Paraparesia Espástica/fisiopatologíaRESUMEN
INTRODUCTION: Home-based self-rehabilitation programmes combined with botulinum toxin injections (BTIs) appear to be a relevant approach to increase the recommended intensive rehabilitation of patients with spasticity following a stroke. The literature highlights a lack of evidence of beneficial effects of this adjuvant therapy to reduce limitations of patients with stroke. The aim of this study is to assess the effects of a 6-month self-rehabilitation programme in adjunction to BTI, in comparison with BTI alone, to reduce limitations of patients with spasticity following a stroke. METHODS AND ANALYSIS: 220 chronic patients will participate to this multicentre, prospective, randomised, controlled, assessor blinded study. All patients will benefit from two successive BTI (3 months apart), and patients randomised in the self-rehabilitation group will perform in adjunction 6 months of self-rehabilitation at home. All patients continue their conventional physiotherapy. The main outcome is the primary treatment goal (PTG), which will be determined jointly by the patient and the medical doctor using Goal Attainment Scaling. Impairments and functions, quality of life, mood and fatigue will be assessed. Botulinum toxin will be injected into the relevant muscles according to the PTG. Patients in the self-rehab group will be taught the self-rehabilitation programme involving respectively 10 min of stretching, 10 min of strengthening and 10 min of task-oriented exercises, corresponding to their PTG. Compliance to the self-rehabilitation programme will be monitored. ETHICS AND DISSEMINATION: Patients will sign written informed consent. Ethical approval was obtained from ethics committee. The results will be disseminated in a peer-reviewed journal and presented at international congresses. The results will also be disseminated to patients. TRIAL REGISTRATION NUMBER: NCT02944929.
Asunto(s)
Toxinas Botulínicas/uso terapéutico , Paraparesia Espástica/rehabilitación , Modalidades de Fisioterapia , Autocuidado/métodos , Rehabilitación de Accidente Cerebrovascular/métodos , Accidente Cerebrovascular/complicaciones , Adolescente , Adulto , Anciano , Toxinas Botulínicas/administración & dosificación , Protocolos Clínicos , Terapia Combinada , Femenino , Humanos , Masculino , Persona de Mediana Edad , Paraparesia Espástica/etiología , Paraparesia Espástica/terapia , Adulto JovenRESUMEN
Hirayama disease (HD)/cervical flexion-induced myelopathy (CFIM) is a lower motor neuron disease conventionally affecting a single upper extremity. We describe three men progressing after a long stable period to develop severe spastic paraparesis and bladder disturbances as a protracted implication of HD. The age at onset was 20, 24, and 15 years, while the age at presentation was 27, 41, and 57 years, respectively. The second phase of disease progression occurred after 4, 13, and 28 years of stationary period. All had CFIM with characteristic magnetic resonance imaging features as observed during progressive stages. The anterior dural shift extended variably from C4 to D4 levels with a median value of 5 mm and was maximum at C6 to C7 levels, pushing the cord anteriorly causing compression. This study emphasizes the need to recognize this unusual subgroup of HD and mandates long-term follow-up with timely intervention in arresting the progression/improving the deficits.
Asunto(s)
Paraparesia Espástica/etiología , Atrofias Musculares Espinales de la Infancia/complicaciones , Adolescente , Adulto , Edad de Inicio , Progresión de la Enfermedad , Humanos , Masculino , Persona de Mediana Edad , Paraparesia Espástica/patología , Atrofias Musculares Espinales de la Infancia/patología , Adulto JovenRESUMEN
RATIONALE: Vacuolar myelopathy is one of most common cause of spastic paresis in patients with human immunodeficiency virus (HIV) infection. However, X-linked adrenoleukodystrophy (X-ALD), which is a metabolic disorder caused by impairment of peroxisomal beta-oxidation of very-long-chain fatty acids (VLCFA), also manifests as various neurological deteriorations including adult onset spastic paraparesis. To the best of our knowledge, there has been no report of newly developed spastic paresis due to X-ALD in a patient with HIV infection. PATIENT CONCERNS: A 30-year-old male had presented with progressive spastic paraparesis for 1 year. DIAGNOSIS: X-ALD. INTERVENTION: Brain and spine magnetic resonance imaging (MRI), VLCFA, and genetic test. OUTCOMES: His spinal MRI mimicked vacuolar myelopathy, but he was finally diagnosed with X-ALD using the VLCFA and genetic test. LESSONS: Although rare, isolated spastic paraparesis can occur in HIV patients; additional tests such as VLCFA can be useful for the differential diagnosis. More data are needed to understand the pathological mechanisms underlying the two diseases.
Asunto(s)
Adrenoleucodistrofia/diagnóstico , Ácidos Grasos/metabolismo , Infecciones por VIH/complicaciones , Enfermedades por Almacenamiento Lisosomal/diagnóstico , Enfermedades Musculares/diagnóstico , Paraparesia Espástica , Adrenoleucodistrofia/etiología , Adrenoleucodistrofia/metabolismo , Adrenoleucodistrofia/terapia , Adulto , Diagnóstico Diferencial , Manejo de la Enfermedad , Pruebas Genéticas/métodos , Humanos , Imagen por Resonancia Magnética/métodos , Masculino , Paraparesia Espástica/diagnóstico , Paraparesia Espástica/etiologíaAsunto(s)
Brucelosis/complicaciones , Pérdida Auditiva Sensorineural/etiología , Pérdida Auditiva Sensorineural/microbiología , Paraparesia Espástica/etiología , Paraparesia Espástica/microbiología , Adulto , Brucelosis/diagnóstico por imagen , Diagnóstico Diferencial , Pérdida Auditiva Sensorineural/diagnóstico por imagen , Humanos , Imagen por Resonancia Magnética , Masculino , Paraparesia Espástica/diagnóstico por imagenRESUMEN
Vanishing white matter disease (VWM) was described by Van der Knaap in 1996. This association with premature ovarian failure is known as ovarioleukodystrophy. This is a rare entity caused by a mutation in one of the subunits of eukaryotic initiation factor 2B (EIF2B). The onset in adulthood or late in adolescence is very infrequent. A 41-years-old woman and her 37-years-old sister developed epilepsy in association with premature ovarian failure at the age of 13 and 18 respectively. The oldest-one started 17 years later progressive subcortical cognitive decline with predominant behavioural disorders and a progressive spastic paraparesis in association with symmetric cystic changes in the with matter of both hemispheres. In both patients we found the c.1117C>T (p.Arg373Cys) mutation in homozygosis in the EIF2B4 gen.