RESUMEN
A 34-year-old patient presented to the emergency department with recurrent neurologic symptoms of sudden onset. MRI showed white matter hyperintensities consistent with small vessel disease, predominantly in the pons. There were no known cardiovascular risk factors (CVRF) and extensive workup for vasculitis was negative. The preliminary diagnosis was small vessel primary central nervous system vasculitis, but immunosuppressive treatment did not stop a progression of the disease over 6 months. Repeated negative diagnostic workup for vasculitis, lack of response to therapy, young age, and predominant involvement of the pons were compatible with pontine autosomal dominant microangiopathy and leukoencephalopathy (PADMAL), which is a very rare monogenic cause of cerebral small vessel disease due to upregulation of collagen type-IV. Correspondingly, a COL4A1 mutation was found. Therapy was immediately stopped in favour of more strict adjustment of the CVRF including lowering of LDL < 70 mg/dl and extensive monitoring of blood-pressure.
Asunto(s)
Infartos del Tronco Encefálico/genética , Enfermedades de los Pequeños Vasos Cerebrales/genética , Colágeno Tipo IV/genética , Leucoencefalopatías/genética , Mutación , Puente/irrigación sanguínea , Adulto , Infartos del Tronco Encefálico/diagnóstico por imagen , Infartos del Tronco Encefálico/fisiopatología , Infartos del Tronco Encefálico/terapia , Enfermedades de los Pequeños Vasos Cerebrales/diagnóstico por imagen , Enfermedades de los Pequeños Vasos Cerebrales/fisiopatología , Enfermedades de los Pequeños Vasos Cerebrales/terapia , Progresión de la Enfermedad , Predisposición Genética a la Enfermedad , Humanos , Leucoencefalopatías/diagnóstico por imagen , Leucoencefalopatías/fisiopatología , Leucoencefalopatías/terapia , Masculino , RecurrenciaAsunto(s)
Cromosomas Humanos Par 8/genética , Exodesoxirribonucleasas/genética , Leucoaraiosis/genética , RecQ Helicasas/genética , Accidente Cerebrovascular/diagnóstico , Accidente Cerebrovascular/genética , Síndrome de Werner/diagnóstico , Síndrome de Werner/genética , Adulto , Infartos del Tronco Encefálico/diagnóstico , Infartos del Tronco Encefálico/genética , Aberraciones Cromosómicas , Consanguinidad , Reparación del ADN/genética , Diagnóstico Diferencial , Femenino , Genes Recesivos/genética , Humanos , Leucoaraiosis/diagnóstico , Accidente Vascular Cerebral Lacunar/diagnóstico , Accidente Vascular Cerebral Lacunar/genética , Helicasa del Síndrome de WernerRESUMEN
OBJECTIVE: To assess the association of Hemoglobin A1C (HbA1c) with acute brainstem infarctions (BSIs) and to determine whether HbA1c is an independent risk factor in BSIs patients. METHODS: 96 only BSIs patients were categorized into four groups according to HbA1c as <6%, ≥ 6% but <7%, ≥ 7% but <8%, or ≥ 8%, respectively. The association of the four HbA1c groups with diffusion-weighted imaging (DWI) infarct volumes (DIV), National Institutes of Health Stroke Scale (NIHSS), and follow-up modified Rankin Scale (FmRS) scores were analyzed. Patients also were categorized into two groups according to HbA1c<6% or ≥ 6%. Logistic regression analyses were performed to determine independent risk factors. RESULTS: There was a significant correlation between HbA1c and DIV (Spearman ρ=0.339, P=0.001), NIHSS scores (ρ=0.292, P=0.004) and FmRS scores (ρ=0.315, P=0.002). The incidence of pons infarction was highest in BSIs and patients with HbA1c ≥ 6% showed significantly more frequent isolated pontine infarction. Logistic regression analyses showed that only HbA1c was independently associated with larger DIV (P=0.025) and FmRS scores (P=0.026). CONCLUSIONS: These results suggest that elevated HbA1c level may be a potential serologic marker in the evaluation of the severity and prognosis of acute BSIs. There is an urgent need to study control of diabetes mellitus (DM) before and after BSIs.
Asunto(s)
Infartos del Tronco Encefálico/diagnóstico , Infartos del Tronco Encefálico/genética , Hemoglobina Glucada/genética , Hemoglobina Glucada/metabolismo , Índice de Severidad de la Enfermedad , Adulto , Anciano , Anciano de 80 o más Años , Biomarcadores/sangre , Infartos del Tronco Encefálico/sangre , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , PronósticoRESUMEN
Se presenta un paciente con un raro melanocitoma meníngeo del ángulo pontocerebeloso que, tras su extirpación quirúrgica radical, evolucionó en el plazo de un año hacia una melanomatosis meníngea fulminante. Se realiza una revisión bibliográfica en busca de las claves para hacer una aproximación diagnóstica preoperatoria de este tipo de tumor y obtener información sobre su tratamiento y manejo postoperatorio (AU)
We report a case of a rare meningeal melanocytoma in the cerebellopontine angle. One year after tumor gross total removal, the patient suffered a sudden and devastating meningeal melanomatosis. The relevant literature is reviewed looking for the keys to establish preoperative diagnosis and to obtain information about its treatment and postsurgical management (AU)
Asunto(s)
Humanos , Masculino , Peca Melanótica de Hutchinson/congénito , Peca Melanótica de Hutchinson/genética , Carbunco/complicaciones , Carbunco/metabolismo , Ángulo Pontocerebeloso/anomalías , Ángulo Pontocerebeloso/citología , Pérdida Auditiva/metabolismo , Infartos del Tronco Encefálico/líquido cefalorraquídeo , Sistema Nervioso Central/citología , Peca Melanótica de Hutchinson/metabolismo , Peca Melanótica de Hutchinson/patología , Carbunco/sangre , Carbunco/parasitología , Ángulo Pontocerebeloso/lesiones , Ángulo Pontocerebeloso/patología , Pérdida Auditiva/complicaciones , Infartos del Tronco Encefálico/genética , Sistema Nervioso Central/fisiologíaAsunto(s)
Infartos del Tronco Encefálico/genética , Predisposición Genética a la Enfermedad/genética , Síndrome MERRF/complicaciones , Síndrome MERRF/genética , Mutación/genética , ARN de Transferencia de Lisina/genética , Adolescente , Ataxia/genética , Tronco Encefálico/patología , Tronco Encefálico/fisiopatología , Infartos del Tronco Encefálico/patología , Infartos del Tronco Encefálico/fisiopatología , Análisis Mutacional de ADN , Trastornos de Deglución/genética , Progresión de la Enfermedad , Disartria/genética , Femenino , Marcadores Genéticos/genética , Pruebas Genéticas , Genotipo , Humanos , Patrón de Herencia/genética , Síndrome MERRF/fisiopatología , Imagen por Resonancia Magnética , Recurrencia , Síndrome de Dificultad Respiratoria/genéticaRESUMEN
Intravenous tissue plasminogen activator (t-PA) is currently approved by the US Food and Drug Administration (FDA) for the treatment of ischemic stroke in patients > 18 years of age who present within 3 hours of stroke onset and meet certain criteria. We report a case of a 16-year-old, previously healthy female who presented with a basilar artery occlusion and pontine ischemic stroke. She was treated with intravenous t-PA approximately 4 hours after the onset of symptoms. The patient demonstrated a remarkable recovery 6 hours after onset of her symptoms and had minimal deficits on discharge from the hospital 1 week later. She was found to have a lupus anticoagulant and was heterozygous for the prothrombin gene G2010A mutation. These were likely contributing causes for her stroke. She was also homozygous for plasminogen activator inhibitor 1 (PAI-1) 4G/4G, which at present is a controversial stroke risk factor.
Asunto(s)
Trastornos de la Coagulación Sanguínea Heredados/complicaciones , Trastornos de la Coagulación Sanguínea Heredados/genética , Predisposición Genética a la Enfermedad/genética , Activador de Tejido Plasminógeno/administración & dosificación , Insuficiencia Vertebrobasilar/tratamiento farmacológico , Insuficiencia Vertebrobasilar/genética , Adolescente , Arteria Basilar/efectos de los fármacos , Arteria Basilar/patología , Arteria Basilar/fisiopatología , Trastornos de la Coagulación Sanguínea Heredados/fisiopatología , Infartos del Tronco Encefálico/tratamiento farmacológico , Infartos del Tronco Encefálico/genética , Infartos del Tronco Encefálico/fisiopatología , Enfermedad de Crohn , Análisis Mutacional de ADN , Femenino , Fibrinolíticos/administración & dosificación , Pruebas Genéticas , Genotipo , Humanos , Inhibidor de Coagulación del Lupus/sangre , Inhibidor de Coagulación del Lupus/genética , Mutación/genética , Inhibidor 1 de Activador Plasminogénico/genética , Protrombina/genética , Recuperación de la Función/efectos de los fármacos , Factores de Tiempo , Resultado del Tratamiento , Insuficiencia Vertebrobasilar/fisiopatologíaAsunto(s)
Infartos del Tronco Encefálico/diagnóstico , Hemorragia Cerebral/diagnóstico , Procesamiento de Imagen Asistido por Computador , Cápsula Interna , Angiografía por Resonancia Magnética , Imagen por Resonancia Magnética , Puente , Síndrome de Sneddon/diagnóstico , Adulto , Encéfalo/patología , Infartos del Tronco Encefálico/genética , Hemorragia Cerebral/genética , Ventrículos Cerebrales/patología , Aberraciones Cromosómicas , Enfermedad Crónica , Dominancia Cerebral/fisiología , Femenino , Genes Dominantes/genética , Hemosiderina/análisis , Humanos , Cápsula Interna/patología , Fenotipo , Puente/patología , Síndrome de Sneddon/genéticaRESUMEN
Intracranial vascular malformations are rare but tend to appear more frequently than usual in patients with type I neurofibromatosis (NFI). Aneurysms of the basilar artery have been described four times so far. We report two cases of 51- and 62-year-old patients with type I neurofibromatosis who showed long fusiform dilation of the basilar artery. Clinically both patients presented with locked-in syndrome and died 15 and 11 days after admission. The diagnosis was confirmed by autopsy. These are the first published cases of locked-in syndrome following thrombosis of a megadolichobasilar artery in association with neurofibromatosis I. Our results show that cerebral vascular malformations are found more frequently than random chance would predict in patients with NF I.
Asunto(s)
Aneurisma Intracraneal/diagnóstico , Neurofibromatosis 1/diagnóstico , Insuficiencia Vertebrobasilar/diagnóstico , Arteria Basilar/patología , Infartos del Tronco Encefálico/diagnóstico , Infartos del Tronco Encefálico/genética , Angiografía Cerebral , Aberraciones Cromosómicas , Resultado Fatal , Humanos , Aneurisma Intracraneal/genética , Angiografía por Resonancia Magnética , Masculino , Persona de Mediana Edad , Neurofibromatosis 1/genética , Examen Neurológico , Puente/patología , Tomografía Computarizada por Rayos X , Insuficiencia Vertebrobasilar/genéticaRESUMEN
We report two cases of the cerebral infarction with familial antithrombin III type I deficiency. Case 1 is a 47-year-old woman presenting deep cerebral vein thrombosis. Case 2 is a 20-year-old man presenting the top of the basilar syndrome. Beside them, substantial number of members had cerebral infarction in this pedigree. We measured AT III activity and quantity for 18 persons in this pedigree. As a consequence, 6 of 18 persons in this pedigree had AT III type I deficiency. Analysis of PCR products of AT III gene derived from the case 1's leukocyte DNA revealed a novel frame shift insertion was demonstrated as mutant alleles with 4-base CTTT in nt 2,420 or nt 2,424 in exon 2 domain on the AT III gene. AT III type I deficiency caused by frame shift insertion has been reported only twelve pedigrees. This is the first case report of AT III type I deficiency caused by frame shift insertion in Japan.