Asunto(s)
Herpes Zóster , Neuritis , Infección por el Virus de la Varicela-Zóster , Herpes Zóster/complicaciones , Herpes Zóster/diagnóstico , Herpesvirus Humano 3 , Humanos , Neuritis/diagnóstico , Neuritis/etiología , Infección por el Virus de la Varicela-Zóster/complicaciones , Infección por el Virus de la Varicela-Zóster/diagnósticoRESUMEN
INTRODUCTION: Advances in the treatment of myasthenia gravis (MG) have improved quality of life and prognosis for the majority of patients. However, 10%-20% of patients present refractory MG, with frequent relapses and significant functional limitations. PATIENTS AND METHODS: Patients with refractory MG were selected from a cohort of patients diagnosed with MG between January 2008 and June 2019. Refractory MG was defined as lack of response to treatment with prednisone and at least 2 immunosuppressants, inability to withdraw treatment without relapse in the last 12 months, or intolerance to treatment with severe adverse reactions. RESULTS: We identified 84 patients with MG, 11 of whom (13%) met criteria for refractory MG. Mean (standard deviation) age was 47 (18) years; 64% of patients with refractory MG had early-onset generalised myasthenia (as compared to 22% in the group of patients with MG; P < .01), with a higher proportion of women in this group (P < .01). Disease severity at diagnosis and at the time of data analysis was higher among patients with refractory MG, who presented more relapses during follow-up. Logistic regression analysis revealed an independent association between refractory MG and the number of severe relapses. CONCLUSIONS: The percentage of patients with refractory MG in our series (13%) is similar to those reported in previous studies; these patients were often women and presented early onset, severe forms of onset, and repeated relapses requiring hospital admission during follow-up.
Asunto(s)
Miastenia Gravis , Calidad de Vida , Humanos , Femenino , Persona de Mediana Edad , Recurrencia Local de Neoplasia , Miastenia Gravis/tratamiento farmacológico , Miastenia Gravis/diagnóstico , Prednisona/uso terapéutico , Inmunosupresores/uso terapéuticoRESUMEN
INTRODUCTION: Ocular myasthenia gravis (MG) is the most common phenotype of MG at onset. A variable percentage of these patients develop secondary generalisation; the risk factors for conversion and the protective effect of immunosuppressive treatment are currently controversial. PATIENTS AND METHODS: We designed a retrospective single-centre study with the aim of describing the demographic, clinical, and laboratory characteristics of a Spanish cohort of patients with ocular MG from Hospital Universitario de Albacete from January 2008 to February 2020. RESULTS: We selected 62 patients with ocular MG from a cohort of 91 patients with MG (68.1%). Median age at diagnosis was 68 (IQR, 52-75.3), and men accounted for 61.3% of the sample (n = 38). Most patients presented very late-onset ocular MG (n = 34, 54.8%). Binocular diplopia was the most frequent initial symptom (51.7%). The rate of progression to generalised MG was 50% (n = 31), with a median time of 6 months (IQR, 2-12.8). Female sex (OR: 5.46; 95% CI, 1.16-25-74; P= .03) and anti-acetylcholine receptor antibodies (OR: 8.86; 95% CI, 1.15-68.41; P = .04) were significantly associated with the risk of developing generalised MG. CONCLUSIONS: The conversion rate observed in our series is relatively high. Generalisation of MG mainly occurs during the first 2 years of progression, and is strongly associated with female sex and especially with the presence of anti-acetylcholine receptor antibodies.
Asunto(s)
Miastenia Gravis , Femenino , Humanos , Estudios Retrospectivos , Miastenia Gravis/diagnóstico , Factores de Riesgo , Receptores Colinérgicos , Diplopía/etiología , AutoanticuerposRESUMEN
Satoyoshi syndrome is a rare disease presumed to be immunologically mediated, characterized by muscle spasms, alopecia and diarrhea. We describe the case of a female in whom the muscle spasms were the predominant feature and we analyze the changes in cortical and in spinal excitability under the paired pulses paradigm. Hyperexcitability was present in the H-reflex study, thus suggesting that the spinal cord is the structure most likely responsible for the spasms. This is the first reported case in Spain.
Asunto(s)
Alopecia/complicaciones , Diarrea/complicaciones , Espasmo/etiología , Alopecia/fisiopatología , Anticuerpos Bloqueadores/sangre , Huesos/anomalías , Huesos/fisiopatología , Corteza Cerebral/fisiopatología , Diarrea/fisiopatología , Electromiografía , Potenciales Evocados Motores/fisiología , Femenino , Glutamato Descarboxilasa/inmunología , Reflejo H/fisiología , Humanos , Conducción Nerviosa/fisiología , Examen Neurológico , Parasimpatolíticos/uso terapéutico , Espasmo/complicaciones , Espasmo/fisiopatología , Médula Espinal/fisiopatología , Estimulación Magnética Transcraneal , Adulto JovenRESUMEN
Martin-Gruber communicating branch may be a confounding factor in the diagnosis of ulnar neuropathy at the elbow. It may also lead to a surprising level of motor function conservation despite evident neuropathy. We present a patient with ulnar nerve section at the elbow who underwent early treatment by nerve suture. At 7 months, function was good, despite sonographic findings of neurotmesis at the elbow. Electroneurography revealed Martin-Gruber communicating branch. This type of communicating branch can be associated with functional conservation despite ulnar nerve section. Electrophysiological and ultrasound findings can be highly contributive in defining these conditions.
Asunto(s)
Articulación del Codo , Neuropatías Cubitales , Codo/fisiología , Codo/cirugía , Articulación del Codo/diagnóstico por imagen , Articulación del Codo/cirugía , Humanos , Nervio Mediano , Nervio Cubital/cirugía , Neuropatías Cubitales/diagnóstico por imagen , Neuropatías Cubitales/cirugíaRESUMEN
INTRODUCTION: Advances in the treatment of myasthenia gravis (MG) have improved quality of life and prognosis for the majority of patients. However, 10%-20% of patients present refractory MG, with frequent relapses and significant functional limitations. PATIENTS AND METHODS: Patients with refractory MG were selected from a cohort of patients diagnosed with MG between January 2008 and June 2019. Refractory MG was defined as lack of response to treatment with prednisone and at least 2 immunosuppressants, inability to withdraw treatment without relapse in the last 12 months, or intolerance to treatment with severe adverse reactions. RESULTS: We identified 84 patients with MG, 11 of whom (13%) met criteria for refractory MG. Mean (standard deviation) age was 47 (18) years; 64% of patients with refractory MG had early-onset generalised myasthenia (as compared to 22% in the group of patients with MG; P<.01), with a higher proportion of women in this group (P<.01). Disease severity at diagnosis and at the time of data analysis was higher among patients with refractory MG, who presented more relapses during follow-up. Logistic regression analysis revealed an independent association between refractory MG and the number of severe relapses. CONCLUSIONS: The percentage of patients with refractory MG in our series (13%) is similar to those reported in previous studies; these patients were often women and presented early onset, severe forms of onset, and repeated relapses requiring hospital admission during follow-up.
RESUMEN
INTRODUCTION: Ocular myasthenia gravis (MG) is the most common phenotype of MG at onset. A variable percentage of these patients develop secondary generalisation; the risk factors for conversion and the protective effect of immunosuppressive treatment are currently controversial. PATIENTS AND METHODS: We designed a retrospective single-centre study with the aim of describing the demographic, clinical, and laboratory characteristics of a Spanish cohort of patients with ocular MG from Hospital Universitario de Albacete from January 2008 to February 2020. RESULTS: We selected 62 patients with ocular MG from a cohort of 91 patients with MG (68.1%). Median age at diagnosis was 68 (IQR, 52-75.3), and men accounted for 61.3% of the sample (n = 38). Most patients presented very late-onset ocular MG (n = 34, 54.8%). Binocular diplopia was the most frequent initial symptom (51.7%). The rate of progression to generalised MG was 50% (n = 31), with a median time of 6 months (IQR, 2-12.8). Female sex (OR: 5.46; 95% CI, 1.16-25-74; p = .03) and anti-acetylcholine receptor antibodies (OR: 8.86; 95% CI, 1.15-68.41; p = .04) were significantly associated with the risk of developing generalised MG. CONCLUSIONS: The conversion rate observed in our series is relatively high. Generalisation of MG mainly occurs during the first 2 years of progression, and is strongly associated with female sex and especially with the presence of anti-acetylcholine receptor antibodies.
RESUMEN
Peripheral Facial palsy (PFP) is generally considered a benign condition with good recovery and no sequelae. Yet, a distortion in the gesture and abnormal blinking, as those typically found in blepharospasm, can potentially develop early on. Such abnormal movements seem to be related to remodelling mechanisms that take place in the process of recovery. We report 2 cases where such clinical features became evident following an idiopathic PFP, as a result of reciprocal inhibition of orbicularis oculi and levator palpebrae. Hence, the neurophysiological study revealed an increased frequency in the blinking, with bilateral trigeminal-facial facilitation and, most notably, a disturbance that only became evident when the eyes were maintained wide open. Interestingly, those features were not reproduced in other tasks where the blinking conditions had not been altered. Our findings suggest that sensory inputs (reflex afferent pathways) are involved in such abnormal movements. The insufficient eyelid closure (lagophthalmus) in the context of PFP is likely to account for the exaggerated corneal vulnerability, thus resulting in abnormal mechanisms of adaptation.
Asunto(s)
Electromiografía/métodos , Párpados/fisiopatología , Músculos Faciales/fisiopatología , Parálisis Facial/fisiopatología , Enfermedad Aguda , Parpadeo/fisiología , Femenino , Humanos , Masculino , Persona de Mediana EdadAsunto(s)
Electroencefalografía , Potenciales Evocados Somatosensoriales , Hipoxia-Isquemia Encefálica/fisiopatología , Estado Vegetativo Persistente/diagnóstico , Adulto , Edema Encefálico/etiología , Edema Encefálico/fisiopatología , Reanimación Cardiopulmonar , Cuidados Críticos , Urgencias Médicas , Reacciones Falso Positivas , Femenino , Humanos , Hipotermia Inducida , Hipoxia-Isquemia Encefálica/complicaciones , Hipoxia-Isquemia Encefálica/diagnóstico , Paro Cardíaco Extrahospitalario/terapia , Estado Vegetativo Persistente/etiología , Estado Vegetativo Persistente/fisiopatología , Pronóstico , Corteza Somatosensorial/fisiopatologíaRESUMEN
Introducción: Los avances en el tratamiento de la miastenia gravis (MG) han conseguido mejoría en la calidad de vida y el pronóstico de la mayoría de los pacientes. Sin embargo, un 10-20% presenta la denominada MG refractaria sin alcanzar mejoría, con frecuentes recaídas e importante repercusión funcional. Pacientes y métodos: Se seleccionó a pacientes con MG refractaria a partir de una cohorte de pacientes con MG diagnosticados desde enero del 2008 hasta junio del 2019. Se definió MG refractaria como falta de respuesta al tratamiento con prednisona y al menos 2 inmunosupresores o imposibilidad para la retirada del tratamiento sin recaídas en los últimos 12 meses o intolerancia al mismo con graves efectos secundarios. Resultados: Se registraron 84 pacientes con MG, 11 cumplían los criterios de MG refractaria (13%), con una edad media de 47 ± 18 años; un 64% los pacientes con MG refractaria fueron clasificados como miastenia generalizada de comienzo precoz (p < 0,01) con una mayor proporción de mujeres (p < 0,01). La gravedad de la enfermedad al diagnóstico, así como en el momento del análisis de los datos, fue superior en el grupo de MG refractaria con un mayor número de recaídas en el seguimiento. En el modelo de regresión logística se obtuvo una asociación independiente entre MG-R y el número de reagudizaciones graves. Conclusiones: El porcentaje de pacientes con MG refractaria en nuestra serie (13%) es similar al descrito en estudios previos, con frecuencia mujeres con inicio precoz, formas graves de inicio y reiteradas reagudizaciones con ingreso hospitalario en el seguimiento.(AU)
Introduction: Advances in the treatment of myasthenia gravis (MG) have improved quality of life and prognosis for the majority of patients. However, 10%-20% of patients present refractory MG, with frequent relapses and significant functional limitations. Patients and methods: Patients with refractory MG were selected from a cohort of patients diagnosed with MG between January 2008 and June 2019. Refractory MG was defined as lack of response to treatment with prednisone and at least 2 immunosuppressants, inability to withdraw treatment without relapse in the last 12 months, or intolerance to treatment with severe adverse reactions. Results: We identified 84 patients with MG, 11 of whom (13%) met criteria for refractory MG. Mean (standard deviation) age was 47 (18) years; 64% of patients with refractory MG had early-onset generalised myasthenia (as compared to 22% in the group of patients with MG; P<.01), with a higher proportion of women in this group (P<.01). Disease severity at diagnosis and at the time of data analysis was higher among patients with refractory MG, who presented more relapses during follow-up. Logistic regression analysis revealed an independent association between refractory MG and the number of severe relapses. Conclusions: The percentage of patients with refractory MG in our series (13%) is similar to those reported in previous studies; these patients were often women and presented early onset, severe forms of onset, and repeated relapses requiring hospital admission during follow-up.(AU)
Asunto(s)
Humanos , Masculino , Femenino , Adulto , Persona de Mediana Edad , Miastenia Gravis/tratamiento farmacológico , Recall de Medicamento , Prednisona , Rituximab , Anticuerpos Monoclonales , Estudios de Cohortes , Estudios RetrospectivosRESUMEN
Congenital myasthenic syndromes are a group of genetically determined rare diseases resulting from ultrastructural alterations in synaptic proteins. Up to 32 genes are known to be involved in those syndromes and many mutations have been reported, of which less than 8% affect the presynaptic complex. One of these syndromes is caused by the impairment of the presynaptic sodium-dependent high-affinity choline transporter 1, as a result of a mutation of the SCL5A7 gene associated with congenital myasthenic syndrome type 20 (MIM # 617143). We present a new case of this syndrome, caused by a mutation not previously described. A full term infant presented with acute respiratory failure and generalized weakness. The genetic analysis revealed the patient to be compound heterozygous for a new mutation of the SCL5A7 gene. The genetic analysis of congenital myasthenic syndromes provide information on the ultrastructural underlying mechanisms, which is valuable for differential diagnosis and specific treatments.
Asunto(s)
Mutación , Síndromes Miasténicos Congénitos/genética , Simportadores/genética , Diagnóstico Diferencial , Humanos , Recién Nacido , Masculino , Debilidad Muscular/diagnóstico , Debilidad Muscular/genética , Debilidad Muscular/fisiopatología , Debilidad Muscular/terapia , Síndromes Miasténicos Congénitos/diagnóstico , Síndromes Miasténicos Congénitos/fisiopatología , Síndromes Miasténicos Congénitos/terapia , Fenotipo , Insuficiencia Respiratoria/diagnóstico , Insuficiencia Respiratoria/genética , Insuficiencia Respiratoria/fisiopatología , Insuficiencia Respiratoria/terapiaRESUMEN
Introducción: La miastenia gravis ocular (MGo) es la forma de presentación de la enfermedad más frecuente. Un porcentaje variable de estos pacientes desarrollan una forma generalizada (MGg), siendo los factores de riesgo de conversión y el efecto protector del tratamiento inmunosupresor objeto de controversia en el momento actual. Pacientes y métodos: Diseñamos un estudio monocéntrico retrospectivo, con el objetivo de describir las características demográficas, clínicas y de laboratorio de una cohorte española de MGo, a partir de una serie de MG registrada en el Hospital Universitario de Albacete desde enero del 2008 hasta febrero de 2020. Resultados: Seleccionamos 62 pacientes con MGo de una cohorte de 91 sujetos con MG (68,1%). La mediana de edad al diagnóstico fue de 68 (RIQ 52-75,3), con predominio de MGo de inicio muy tardío (n = 34, 54,8%) y de varones (n = 38, 61,3%). La diplopía binocular fue el síntoma inicial más frecuente (51,7%). La tasa de conversión a MGg fue del 50% (n = 31), con una mediana de tiempo de seis meses (RIQ 2-12,8). Encontramos asociación significativa entre ser mujer (OR: 5,46, IC 95% 1,16-25-74, p = 0,03) y tener AcAchR (OR: 8,86, IC 95% 1,15-68,41, p = 0,04), con el riesgo de desarrollar una MGg. Conclusiones: La tasa de conversión de MGo en nuestra serie es relativamente elevada. La generalización tiene lugar principalmente durante los primeros dos años de evolución y está asociada al sexo femenino y, sobre todo, a la presencia de AcAchR.(AU)
Introduction: Ocular myasthenia gravis (MG) is the most common phenotype of MG at onset. A variable percentage of these patients develop secondary generalisation; the risk factors for conversion and the protective effect of immunosuppressive treatment are currently controversial. Patients and methods: We designed a retrospective single-centre study with the aim of describing the demographic, clinical, and laboratory characteristics of a Spanish cohort of patients with ocular MG from Hospital Universitario de Albacete from January 2008 to February 2020. Results: We selected 62 patients with ocular MG from a cohort of 91 patients with MG (68.1%). Median age at diagnosis was 68 (IQR, 52-75.3), and men accounted for 61.3% of the sample (n = 38). Most patients presented very late-onset ocular MG (n = 34, 54.8%). Binocular diplopia was the most frequent initial symptom (51.7%). The rate of progression to generalised MG was 50% (n = 31), with a median time of 6 months (IQR, 2-12.8). Female sex (OR: 5.46; 95% CI, 1.16-25-74; p = .03) and antiacetylcholine receptor antibodies (OR: 8.86; 95% CI, 1.15-68.41; p = .04) were significantly associated with the risk of developing generalised MG. Conclusions: The conversion rate observed in our series is relatively high. Generalisation of MG mainly occurs during the first 2 years of progression, and is strongly associated with female sex and especially with the presence of antiacetylcholine receptor antibodies.(AU)
Asunto(s)
Humanos , Masculino , Femenino , Persona de Mediana Edad , Anciano , Miastenia Gravis , Factores de Riesgo , Neurología , Enfermedades del Sistema Nervioso , Acetilcolina , España , Epidemiología Descriptiva , Estudios RetrospectivosRESUMEN
INTRODUCTION: Hirschsprung's disease (HD), or aganglionic megacolon, is a congenital disorder that is characterised by the absence of ganglion cells in the submucosal and myenteric plexuses of the intestine, which is caused by the failure of these cells to migrate from the neural crest (neurocristopathy). Cerebral dysgenesis and polymalformation syndromes have been reported in association with HD, thus suggesting an abnormal morphogenesis. AIM: To study the frequency of cerebral malformations in patients with HD in our environment. PATIENTS AND METHODS: We conducted a retrospective study of 41,666 live newborn infants, over the period 1993-2003, and 17 cases of HD where identified. RESULTS: The incidence of HD in the health district of the province of Albacete is 1.68 per 5,000 live newborn infants. Of the 17 patients with HD who were studied, 10 were isolated (58.8%) and seven (41.1%) were associated to other structural abnormalities and psychomotor retardation. Three of the cases in this latter group were due to chromosome pathology (trisomy 21, Down syndrome), two were caused by specific polymalformation syndromes (one Mowat-Wilson syndrome and one possible FG syndrome), one was due to a pattern of abnormalities that did not fit any known syndrome, and one had a normal phenotype and isolated cerebral dysgenesis. In all of cases the neuroimaging studies identified cerebral dysgenesis that was compatible with neuronal migration disorders. CONCLUSIONS: The frequency of association of HD, either isolated or within the context of a specific malformation syndrome, with neuronal migration disorders is high (23.5%). We suggest a full genetic and neurological evaluation should be carried out in patients with HD, together with brain imaging studies in order to rule out the possibility of cerebral dysgenesis.
Asunto(s)
Anomalías Múltiples/patología , Encéfalo/anomalías , Enfermedad de Hirschsprung/patología , Malformaciones del Desarrollo Cortical del Grupo II/patología , Cresta Neural/embriología , Anomalías Múltiples/embriología , Anomalías Múltiples/epidemiología , Agenesia del Cuerpo Calloso , Encéfalo/embriología , Linaje de la Célula , Movimiento Celular , Síndrome de Down/embriología , Síndrome de Down/patología , Electroencefalografía , Potenciales Evocados Auditivos del Tronco Encefálico , Femenino , Enfermedad de Hirschsprung/embriología , Enfermedad de Hirschsprung/epidemiología , Humanos , Incidencia , Recién Nacido , Masculino , Malformaciones del Desarrollo Cortical del Grupo II/embriología , Malformaciones del Desarrollo Cortical del Grupo II/epidemiología , Malformaciones del Desarrollo Cortical del Grupo II/fisiopatología , Estudios Retrospectivos , España/epidemiología , Síndrome , Tetralogía de Fallot/embriología , Tetralogía de Fallot/patologíaRESUMEN
INTRODUCTION: Leprosy is a widespread infectious disease in humans that is endemic to regions with poor sanitary conditions, especially in cases of overcrowding, malnutrition and bad hygiene. The disease is characterised by dermopathy, which is quite typical, but above all by neuropathy, which often becomes the most important element. In most cases, alterations to nerves are defined by sensory deficits that are predominantly distal and multiple neuritis in areas where nerve entrapment has taken place. CASE REPORTS: Two patients, both native Spaniards, presented largely overlapping clinical pictures, that is, a history of 'glove and stocking' type paresthesias and dysesthesias going back months or even years and functional impotence, which gave rise to a very pronounced gait disorder. In the two cases, the immunological situation was determined to be borderline lepromatous leprosy. The neurophysiological study revealed the presence of severe, diffuse sensory-motor axonal polyneuropathy that was predominantly distal, and several entrapped nerves. The dermatological illness was greatly improved by the treatment. The same was partially true, although to a satisfactory extent, of the neurological disease. CONCLUSION: We describe the cases of two Spaniards with borderline lepromatous leprosy with no past history of the disease, in whom neuropathy was the predominant symptom. We highlight the speed with which the neuropathies progressed, probably due to a change in 'polarity', and the severity of the neurological deficits in comparison with the dermopathy, in an unusual immunological situation. The growing number of native patients in the first world, even when there is no relevant history, suggests that we should not think of leprosy as something only occurring in immigrant patients from places where it is endemic, although the epidemiological relationship has still not been determined.
Asunto(s)
Lepra Lepromatosa/complicaciones , Polineuropatías/etiología , Anciano , Anciano de 80 o más Años , Aminas/uso terapéutico , Ácidos Ciclohexanocarboxílicos/uso terapéutico , Progresión de la Enfermedad , Gabapentina , Trastornos Neurológicos de la Marcha/etiología , Humanos , Leprostáticos/uso terapéutico , Lepra Lepromatosa/tratamiento farmacológico , Masculino , Conducción Nerviosa , Parestesia/etiología , Polineuropatías/diagnóstico , Polineuropatías/tratamiento farmacológico , Reflejo Anormal , Piel/patología , España , Ácido gamma-Aminobutírico/uso terapéuticoRESUMEN
INTRODUCTION: In 1974 Pena and Shokeir described an early lethal disorder (OMIM 208150) that was characterised by neurogenic arthrogryposis, facial abnormalities and pulmonary hypoplasia. It has recently been suggested that it is secondary to the reduction of movements in the uterus due to an intrinsic pathology regardless of the cause (FADS, foetal akinesia deformation sequence). Klippel-Feil (K-F) syndrome (OMIM 118100) is defined by the congenital fusion of one or two cervical vertebrae, and clinically manifests as a shortened neck, with limited head movements, and may also be associated to other malformations. CASE REPORTS: We report the case of a family diagnosed with K-F syndrome type II. It was observed in the father and one daughter; another child presented Pena-Shokeir type I and died during the neonatal period. Both siblings presented anomalies in the central nervous system. CONCLUSIONS: The incidence of FADS syndrome is 1/10,000 deliveries and that of K-F syndrome is between 1/35,000 and 1/42,000 births. We reviewed the literature on FADS syndrome and no familiar association with K-F syndrome was found among its causes. Our aim is to report that an association between the two conditions is possible, which is very important for establishing suitable genetic counselling.
Asunto(s)
Anomalías Múltiples , Síndrome de Klippel-Feil , Enfermedades Neuromusculares , Anomalías Múltiples/diagnóstico , Anomalías Múltiples/genética , Anomalías Múltiples/patología , Adulto , Femenino , Humanos , Síndrome de Klippel-Feil/diagnóstico , Síndrome de Klippel-Feil/genética , Síndrome de Klippel-Feil/patología , Masculino , Enfermedades Neuromusculares/diagnóstico , Enfermedades Neuromusculares/genética , Enfermedades Neuromusculares/patología , EmbarazoRESUMEN
We present four cases of femoral neuropathy due to urological surgery, first case happened after right lumbotomy twenty years ago and the other three cases in the last four years after iliac incision. We review lesion production mecanism, evolution, treatment and prevention of this rare neurological complication. We do a literature review about this pathology related with urological activity.
Asunto(s)
Neuropatía Femoral/etiología , Procedimientos Quirúrgicos Urológicos/efectos adversos , Adulto , Femenino , Humanos , Plexo Lumbosacro , Masculino , Persona de Mediana EdadAsunto(s)
Músculo Esquelético/lesiones , Músculo Esquelético/inervación , Radiculopatía/etiología , Toxinas Botulínicas Tipo A/uso terapéutico , Electromiografía , Fenómenos Electrofisiológicos , Humanos , Hipertrofia/etiología , Hipertrofia/patología , Pierna/patología , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Desnervación Muscular , Músculo Esquelético/patología , Examen Neurológico , Fármacos Neuromusculares/uso terapéutico , Radiculopatía/tratamiento farmacológico , Radiculopatía/patologíaRESUMEN
INTRODUCTION: Embryogenetic disorders are one of the most serious problems in the life of an epileptic. Over the last few decades many antiepileptic drugs, including valproic acid, have been shown to have teratogenic properties. Embryopathy due to valproate, also known as fetal valproate syndrome, is a well-known and documented example of these conditions. CASE REPORT: We report the case of a preterm newborn infant who, at birth, exhibited a syndrome characterised by facial dysmorphia, gingival hyperplasia, neurological hyperexcitability and multiple malformations, the most striking of which was the presence of predominantly temporal atrophy in the left brain hemisphere. The most significant event in the medical history of the case was the mother's taking valproate in monotherapy throughout the entire period of gestation as treatment for generalised idiopathic epilepsy that was diagnosed during adolescence. Screening precluded the most common metabolic, hereditary or infectious causes that can cause embryopathies. CONCLUSIONS: The mother's history of taking valproic acid and the specific findings that coincided in the peculiar embryopathy of this patient enabled us to link them.