RESUMEN
Acute hyperammonemic encephalopathy is generally associated with severe liver disease, manifesting with neuropsychiatric symptoms including confusion, lethargy, seizure, coma, and even death. Electroencephalogram (EEG) is a proven diagnostic, prognostic, and therapeutic tool in patients with acute and chronic encephalopathies. EEG changes in acute hyperammonemic encephalopathy are associated with background slowing in theta to delta ranges, accompanied by presence of triphasic waves. We reported a patient with acute hyperammonemic encephalopathy showing an unusual burst-suppression pattern, which was reversible with proper treatment.
RESUMEN
We report a man who presented with progressive disinhibition and through clinicoradiologic correlation using magnetic resonance imaging (MRI), aim to investigate the pathomechanism of disinhibition in neuro-Behcet's disease (NBD). A 46-year-old man presented with progressive disinhibition and apathy for 4 months. One month after his visit, additionally, he developed left partial third nerve palsy. His brain MRI showed lesions in the ventral caudate nucleus as well as left midbrain and thalamus. Taking his recurrent oral ulcers, uveitis, and erythema nodosum into consideration, he was diagnosed with NBD. We found that progressive disinhibition could be one of presenting symptoms in BD and might be associated with the caudate nucleus. This finding suggests that involvement of the basal ganglia in BD prior to the involvement of the brainstem could result in unique clinical features such as behavioral changes without extrapyramidal signs.
Asunto(s)
Humanos , Persona de Mediana Edad , Apatía , Ganglios Basales , Encéfalo , Tronco Encefálico , Núcleo Caudado , Eritema Nudoso , Imagen por Resonancia Magnética , Mesencéfalo , Enfermedades del Nervio Oculomotor , Úlceras Bucales , Tálamo , UveítisRESUMEN
We report a man who presented with progressive disinhibition and through clinicoradiologic correlation using magnetic resonance imaging (MRI), aim to investigate the pathomechanism of disinhibition in neuro-Behcet's disease (NBD). A 46-year-old man presented with progressive disinhibition and apathy for 4 months. One month after his visit, additionally, he developed left partial third nerve palsy. His brain MRI showed lesions in the ventral caudate nucleus as well as left midbrain and thalamus. Taking his recurrent oral ulcers, uveitis, and erythema nodosum into consideration, he was diagnosed with NBD. We found that progressive disinhibition could be one of presenting symptoms in BD and might be associated with the caudate nucleus. This finding suggests that involvement of the basal ganglia in BD prior to the involvement of the brainstem could result in unique clinical features such as behavioral changes without extrapyramidal signs.
Asunto(s)
Humanos , Persona de Mediana Edad , Apatía , Ganglios Basales , Encéfalo , Tronco Encefálico , Núcleo Caudado , Eritema Nudoso , Imagen por Resonancia Magnética , Mesencéfalo , Enfermedades del Nervio Oculomotor , Úlceras Bucales , Tálamo , UveítisRESUMEN
Hereditary spastic paraplegia (HSP) is a group of genetically heterogeneous neurodegenerative disorders that are characterized by progressive spasticity and weakness of both lower extremities. Here we report a novel missense mutation [c.1105A>C (p.Thr369Pro)] of SPG4 in a Korean family with an autosomal dominant-inherited pure HSP. The mutation is located in exon 8, and results in a heterozygote of the c.1105A>C mutation. It is likely that the mutation of exon 8 leads to spastin dysfunction and causes the typical symptoms and signs of HSP.