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Objective: To investigate the clinical features and imaging characteristics of mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).Methods: Seventeen patients with MELAS diagnosed in the Affiliated Hospital of Xuzhou Medical University from July 2014 to August 2018 were enrolled in this study and their clinical manifestations, imaging and histopathological features were retrospectively analysed. We also discussed and summarised the related literature.Results: All of the 12 patients had seizures; stroke-like episodes in 12 cases; audio-visual impairment in 12 cases; headache in six cases; dysplasia in four cases; mental retardation in three cases; ataxia in two cases. On cranial magnetic resonance (MR) scans, the most common manifestations were in temporal-occipital-parietal lobe, cortical or subcortical areas as well as frontal lobe, thalamus, and basal ganglia showing long or equal T1 signals, long T2 signals, and hyperintense or iso-intense diffusion-weighted imaging (DWI) signals accompanied by ventricular enlargement and brain atrophy. MR spectroscopy showed that lactic acid peaks could be found in lesion sites, normal brain tissues, and cerebrospinal fluid. Muscle biopsy and genetic testing are the gold standard for diagnosing MELAS, muscle biopsy revealed COX-negative muscle fibres and SDH-stained red ragged fibres (RRF) under the sarcolemma. Mutations of mtDNA A3243G locus were common on gene testing. Improvement of mitochondrial function was observed after symptomatic and supportive treatment.Conclusion: MELAS should be considered for patients with epileptic seizures, headache, stroke-like episodes, extraocular palsy, cognitive decline and other clinical manifestations with the lesion located in the temporal-occipital-parietal lobe regardless of the distribution of blood vessels, and further examinations including muscle biopsy and gene testing should be performed to confirm the diagnosis.
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Síndrome MELAS/diagnóstico , Síndrome MELAS/patología , Síndrome MELAS/fisiopatología , Adolescente , Adulto , Atrofia/patología , Niño , Femenino , Pruebas Genéticas , Humanos , Síndrome MELAS/genética , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Adulto JovenRESUMEN
OBJECTIVE: To summarize the current understanding of neuronal intranuclear inclusion disease (NIID) and improve the understanding of the physician about this condition. METHODS: We searched PubMed with keywords related to NIID and selected publications which seemed appropriate. We analyzed its clinical features, pathogenesis, evaluation methods, treatment options, and research prospectives. RESULTS: NIID is a degenerative condition which can affect multiple organ systems especially central nervous system. Its clinical features greatly vary, and making the exact diagnosis is often difficult. There are several genes which have been associated with this disorder. Some specific signs on diffusion-weighted-imaging (DWI) sequence of magnetic resonance (MR) imaging are characteristics to NIID. CONCLUSION: Intranuclear inclusions have been found in various nonneural cells of the body; therefore, the term systemic intranuclear inclusion disease is, perhaps, better suited to explain this disorder. There are several disorders which need to be ruled out before making the diagnosis, and neuroimaging and biopsy analysis should be combined to support the diagnosis.
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Enfermedades Neurodegenerativas/patología , Encéfalo/patología , Humanos , Cuerpos de Inclusión Intranucleares/genética , Cuerpos de Inclusión Intranucleares/patología , Enfermedades Neurodegenerativas/diagnóstico , Enfermedades Neurodegenerativas/genética , Neuronas/patologíaRESUMEN
OBJECTIVE: To investigate clinical and imaging features of 40 patients with spontaneous intracranial hypotension (SIH). METHODS: 40 cases of spontaneous intracranial hypotension (SIH) diagnosed in our hospital from June 2013 to September 2017 were collected and retrospectively analyzed. RESULTS: In our study, the male to female ratio was 2:3. The average age of onset was 43.0 ± 15.0 years. There were 12 (30.0%) patients with clear incentives, mostly catching cold. The average length of hospital stay was 11.2 ± 6.3 days. All the patients showed orthostatic headaches, 62.5% patients with nausea or vomiting, 40.0% patients with neck stiffness, 17.5% patients with dizziness and vertigo, 10.0% patients with numbness and weakness of limbs, 5% patients with neck discomfort, and 2.5% patients with visual symptoms (visual impairment, photophobia, diplopia). 24 patients underwent CT scans which showed no abnormalities in 20 cases (83.3%), subdural fluid accumulation in 3 cases (12.5%), and subdural haematoma in 1 case (2.5%). Cranial contrast-enhanced MR scans showed diffuse pachymeningeal enhancement (95.83%, 23/24), signs of pituitary hyperaemia in 5 cases (20.8%), subdural fluid accumulation and subdural hematoma in 4 cases (16.7%), sagging of the brain in 3 cases (12.5%), and engorgement of venous structures in 1 case (4.1%). Six patients underwent plain and contrast-enhanced spinal MR scans which showed varying degrees of dural thickening and enhanced performance in all the patients. 92.5% (37/40) of patients had cerebrospinal fluid pressure <60 mmH2O on lumbar puncture. 97.5% of patients underwent conservative treatment with drugs and had a good outcome. CONCLUSION: Orthostatic headache and cranial MRI diffuse pachymeningeal enhancement are characteristic features of SIH. Cranial contrast-enhanced MR scan is recognized as the first and non-invasive investigation in the diagnosis of SIH. Most patients had cerebrospinal fluid pressure <60 mmH2O. The vast majority of patients improved with fluid replacement.
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Mareo/diagnóstico , Cefalea/diagnóstico , Hipotensión Intracraneal/diagnóstico , Dolor de Cuello/diagnóstico , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Encéfalo/diagnóstico por imagen , Niño , Mareo/diagnóstico por imagen , Mareo/fisiopatología , Femenino , Cefalea/diagnóstico por imagen , Cefalea/fisiopatología , Humanos , Hipotensión Intracraneal/diagnóstico por imagen , Hipotensión Intracraneal/fisiopatología , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Dolor de Cuello/diagnóstico por imagen , Dolor de Cuello/fisiopatología , Síndrome , Adulto JovenRESUMEN
OBJECTIVE: To investigate the clinical and imaging features of gray matter heterotopia (GMH) and improve the clinicians' understanding of the disease. METHODS: A retrospective study was performed on 15 patients with GMH diagnosed at The Affiliated Hospital of Xuzhou Medical University from November 2014 to November 2016. Their clinical and imaging features are also summarized. RESULTS: The proportion of male and female patients was 2:1. The age of onset was 2~45 years and the average age was 19.1 years. There were 13 patients with epilepsy who also had cognitive decline (5 cases) and neurological deficit (3 cases). There were 2 patients with headache or dizziness. The imaging findings of GMH are unilateral or multiple spots in the periventricular or subependymal, subcortical, and centrum semiovale and are often accompanied by other cerebral malformations. We found that 10 patients had the subcortical type of GMH and 5 patients had the subependymal type or periventricular nodular heterotopia type. There were 8 cases of ventricular compression, 5 cases of ventriculomegaly, 5 cases of cerebral fissure malformation, 3 cases of pachygyria, 1 case of callosal agenesis, and 1 case of undeveloped septum pellucidum. All the patients were given symptomatic and supportive therapies and 3 patients were treated with antiepileptic drugs. Seizures were, however, poorly controlled. CONCLUSION: GMH should also be suspected in patients with juvenile onset of seizures, cognitive decline, and neurological deficits. Magnetic resonance scans may show lesions in the white matter of the brain with signals similar to the normal gray matter.
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Sustancia Gris/diagnóstico por imagen , Imagen por Resonancia Magnética , Heterotopia Nodular Periventricular/diagnóstico por imagen , Heterotopia Nodular Periventricular/patología , Adolescente , Adulto , Anticonvulsivantes/uso terapéutico , Preescolar , Epilepsia/tratamiento farmacológico , Epilepsia/etiología , Femenino , Humanos , Procesamiento de Imagen Asistido por Computador , Masculino , Persona de Mediana Edad , Heterotopia Nodular Periventricular/complicaciones , Heterotopia Nodular Periventricular/tratamiento farmacológico , Estudios RetrospectivosRESUMEN
Oculomotor nerve palsy (ONP) is an important and common clinical diagnosis. Its main features are diplopia and ptosis. Its aetiologies are various and complex. A number of different conditions have been reported to cause ONP, such as diabetes mellitus, aneurysm, tumours, painful ophthalmoplegia, pituitary lesions, cavernous sinus lesions, central nervous system infections, and subarachnoid haemorrhage. A patients needs to undergo several tests in order to establish the correct underlying pathology. In this review, we have summarized the aetiologies of the unilateral ONP, and discussed their relative clinical features, pathogenesis, diagnostic criteria, treatment options, and prognosis. We searched PubMed for papers related to ONP and its aetiologies, and selected the publications, which seemed appropriate.
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Lateralidad Funcional/fisiología , Enfermedades del Nervio Oculomotor/etiología , Animales , Humanos , PubMed/estadística & datos numéricosRESUMEN
A young patient presented to our hospital with ischemic stroke. She underwent a routine blood test, head computed tomography (CT), brain magnetic resonance imaging, a bone marrow biopsy, and CT angiography. Her diagnosis was a bilateral vertebral artery dissection associated with essential thrombocythemia (ET). She was treated with antiplatelet therapy and a stent implantation. The association of bilateral vertebral artery dissection with ET is rare. An early diagnosis and timely management is key to the best outcome.