Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0014070 (encephalomyelitis)
 13,017 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a 49-year-old previously healthy woman with acute onset of decrease in attention, dysarthria and ataxia, accompanied by drowsiness. On admission, there were cloudness of consciousness, hallucination and left hemiparesis. Cerebrospinal fluid study revealed a cell count of 1/mm3, and the cytology was class I with a slight increase in protein. MRI of the brain performed on admission showed multiple gadolinium-enhanced lesions with a T2 weighted high intensity area in the cerebral white matter. At first the patient was diagnosed as acute disseminated encephalomyelitis (ADEM), and treated with methylprednisolon pulse therapy. Soon after, she showed transient clinical improvement, but her condition soon worsened. MR spectroscopy revealed elevated choline peak, decreased NAA peak and lactate peak, which indicated a neoplastic lesion. The brain biopsy disclosed diffuse intravascular lymphoma (IVL). MRS was useful in the differential diagnosis of IVL from ADEM.
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PMID:[MR spectroscopy findings of a case of intravascular malignant lymphoma: usefulness for differential diagnosis]. 1288 28

In a clinical review of 50 cases of western equine and 16 cases of St. Louis encephalomyelitis in humans it was noted that fever, headache, lethargy, drowsiness, tremor and stiffness of the neck were the most frequent signs or symptoms initiating the illness. The great majority of patients recovered without residual effect. These two diseases of the central nervous system can only be differentiated on an immunological basis but may be suspected during seasonal periods in geographical areas where these virus infections are known to exist. Neuropathological studies were done in four cases of human western equine and two cases of St. Louis encephalomyelitis. The primary point of attack by the virus is the cell body, the lesions being concentrated in the striate body, diencephalon, the brain stem and cerebellum. All histo-anatomical findings (nerve cell destruction, microglial nests, small isolated and confluent areas of necrosis and perivascular round cell infiltration) are secondary to the injury of the nerve cell body caused by the neurotropic virus.
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PMID:Western equine and St. Louis encephalomyelitis. 1482 14

A 7-year-old Japanese female diagnosed as having acute disseminated encephalomyelitis presented seizures, visual symptoms, and hypersomnia with bilateral lesions in the white matter, basal ganglia, and hypothalamus. Her clinical findings and demonstrated lesions in neuroimages were similar to those of Von Economo's encephalitis lethargica. Her hypocretin, the hypothalamic neuropeptide controlling sleep-awake cycle, was significantly low in the cerebrospinal fluid (146 pg/mL) on admission. Successive measures resulted in the gradual recovery of cerebrospinal fluid hypocretin to the normal range (263 pg/mL) as her excessive daytime sleepiness was reduced. Decreased hypothalamic hypocretin neurotransmission may be involved in this symptomatic case of hypersomnia associated with acute disseminated encephalomyelitis.
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PMID:Hypersomnia and low cerebrospinal fluid hypocretin levels in acute disseminated encephalomyelitis. 1551 22

Human narcolepsy is a chronic sleep disorder affecting 1:2000 individuals. The disease is characterized by excessive daytime sleepiness, cataplexy and other abnormal manifestations of REM sleep, such as sleep paralysis and hypnagogic hallucinations. Recently, it was discovered that the pathophysiology of (idiopathic) narcolepsy-cataplexy is linked to hypocretin ligand deficiency in the brain and cerebrospinal fluid (CSF), as well as the positivity of the human leukocyte antigen (HLA) DR2/DQ6 (DQB1*0602). The symptoms of narcolepsy can also occur during the course of other neurological conditions (i.e. symptomatic narcolepsy). We define symptomatic narcolepsy as those cases that meet the International Sleep Disorders Narcolepsy Criteria, and which are also associated with a significant underlying neurological disorder that accounts for excessive daytime sleepiness (EDS) and temporal associations. To date, we have counted 116 symptomatic cases of narcolepsy reported in literature. As, several authors previously reported, inherited disorders (n=38), tumors (n=33), and head trauma (n=19) are the three most frequent causes for symptomatic narcolepsy. Of the 116 cases, 10 are associated with multiple sclerosis, one case of acute disseminated encephalomyelitis, and relatively rare cases were reported with vascular disorders (n=6), encephalitis (n=4) and degeneration (n=1), and hererodegenerative disorder (three cases in a family). EDS without cataplexy or any REM sleep abnormalities is also often associated with these neurological conditions, and defined as symptomatic cases of EDS. Although it is difficult to rule out the comorbidity of idiopathic narcolepsy in some cases, review of the literature reveals numerous unquestionable cases of symptomatic narcolepsy. These include cases with HLA negative and/or late onset, and cases in which the occurrences of the narcoleptic symptoms are parallel with the rise and fall of the causative disease. A review of these cases (especially those with brain tumors), illustrates a clear picture that the hypothalamus is most often involved. Several cases of symptomatic cataplexy (without EDS) were also reported and in contrast, these cases appear to be often associated with non-hypothalamic structures. CSF hypocretin-1 measurement were also carried out in a limited number of symptomatic cases of narcolepsy/EDS, including narcolepsy/EDS associated with tumors (n=5), head trauma (n=3), vascular disorders (n=5), encephalopathies (n=3), degeneration (n=30), demyelinating disorder (n=7), genetic/congenital disorders (n=11) and others (n=2). Reduced CSF hypocretin-1 levels were seen in most symptomatic narcolepsy cases of EDS with various etiologies and EDS in these cases is sometimes reversible with an improvement of the causative neurological disorder and an improvement of the hypocretin status. It is also noted that some symptomatic EDS cases (with Parkinson diseases and the thalamic infarction) appeared, but they are not linked with hypocretin ligand deficiency. In contrast to idiopathic narcolepsy cases, an occurrence of cataplexy is not tightly associated with hypocretin ligand deficiency in symptomatic cases. Since CSF hypocretin measures are still experimental, cases with sleep abnormalities/cataplexy are habitually selected for CSF hypocretin measures. Therefore, it is still not known whether all or a large majority of cases with low CSF hypocretin-1 levels with CNS interventions, exhibit EDS/cataplexy. It appears that further studies of the involvement of the hypocretin system in symptomatic narcolepsy and EDS are helpful to understand the pathophysiological mechanisms for the occurrence of EDS and cataplexy.
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PMID:Symptomatic narcolepsy, cataplexy and hypersomnia, and their implications in the hypothalamic hypocretin/orexin system. 1600 55

A 31-year-old woman with a 5-year history of recurrent optic neuritis and encephalomyelitis underwent repeated steroid therapy. She developed general malaise and fever in October 2009. Laboratory tests revealed marked reduction in serum Na (106 mEq/L). Because the plasma osmotic pressure was lower than the urinary osmotic pressure and the serum antidiuretic hormone (ADH) level was elevated, she was diagnosed with the syndrome of inappropriate secretion of antidiuretic hormone (SIADH). Magnetic resonance imaging (MRI) revealed high signal intensities on symmetrical T2 weighted and fluid attenuated inversion recovery (FLAIR) images of both sides of the hypothalamus. The serum samples tested positive for the antibody to aquaporin-4 (AQP4). Previously conducted cervical MRI had revealed a longitudinally extending lesion in the cervical cord, and brain MRI had revealed brainstem lesions. We diagnosed the patient with neuromyelitis optica (NMO) according to the revised diagnostic criteria for NMO proposed by Wingerchuk in 2006. Furthermore, she complained of excessive daytime sleepiness. The concentration of orexin in the cerebrospinal fluid was mildly reduced and the orexin levels returned to normal when her sleepiness decreased. ADH and orexin neurons localized in the hypothalamus; hence, we considered the above-mentioned symptoms to be caused by bilateral hypothalamic lesions.
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PMID:[Neuromyelitis optica with syndrome of inappropriate secretion of antidiuretic hormone and hypersomnia associated with bilateral hypothalamic lesions: a case report]. 2187 27

The International Pediatric Multiple Sclerosis Study Group requires the presence of encephalopathy to diagnose acute disseminated encephalomyelitis. Clinical characteristics of encephalopathy are inadequately delineated in the pediatric demyelinating literature. The authors' purpose was to better define encephalopathy in pediatric acute disseminated encephalomyelitis by describing the details of the mental status change. A retrospective chart review was conducted for 25 children diagnosed with acute disseminated encephalomyelitis according to the International Pediatric Multiple Sclerosis Study Group guidelines. Frequency of encephalopathy-defining features was determined. Clinical characteristics, cerebrospinal fluid findings, and electroencephalography (EEG) findings were compared between patients with different stages of encephalopathy. The authors found irritability (36%), sleepiness (52%), confusion (8%), obtundation (20%), and coma (16%) as encephalopathy-defining features in acute disseminated encephalomyelitis. Twenty-eight percent had seizures, and 65% demonstrated generalized slowing on EEG. Approximately half of the patients in this study were diagnosed with encephalopathy based on the presence of irritability and/or sleepiness only. Such features in young children are often subtle and transient and thus difficult to objectively determine.
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PMID:Defining encephalopathy in acute disseminated encephalomyelitis. 2374 3

We describe the case of a 3-year-old boy diagnosed with the fulminant form of acute disseminated encephalomyelitis (ADEM). He developed general fatigue, fever, drowsiness and difficulty in walking. He had extensive multiple high-intensity lesions in the white matter of the cerebrum and cerebellum, which are typical findings of ADEM. He became comatose and developed decerebrate rigidity with severe brain edema despite high-dose methylprednisolone therapy, and then was subjected to mild hypothermia therapy, and given i.v. immunoglobulin. The patient recovered remarkably with the sequela of only mild action tremor. The patient was considered to have acute hemorrhagic leukoencephalitis (AHLE), an extremely severe form of ADEM, in terms of the rapidly deteriorating clinical course and neuroimaging features. It was speculated that AHLE and ADEM might be a continuous disease spectrum. It is considered that the severe brain edema associated with ADEM or AHLE is a suitable indication for mild hypothermia therapy.
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PMID:Fulminant form of acute disseminated encephalomyelitis in a child treated with mild hypothermia. 2433 Mar

A 25-year-old woman presented with a fever, headache, vomiting and somnolence. Cranial magnetic resonance imaging (MRI) showed multiple lesions in the cerebellum, brainstem, cerebral cortex and subcortex. Oligoclonal bands were positive in the cerebral spinal fluid (CSF). She experienced a good recovery after steroid treatment. Four months later, she developed right vision loss. Repeated MRI showed multiple cranial lesions different from those involved in the first attack in both size and distribution. An abnormal high signal was also observed in the front and intraorbital regions of the right optic nerve. The patient's vision progressively improved, and she obtained a full recovery following the administration of steroids. A diagnosis of multiphasic disseminated encephalomyelitis manifesting with optic neuritis was made.
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PMID:An adult case of multiphasic disseminated encephalomyelitis manifesting with optic neuritis. 2478 95

We describe a case of a 15-month-old female child admitted to our hospital because of fever, rash, neurological signs (oscillation between states of irritability and drowsiness), palpebral edema and drooping eyelid, appeared 10 days after the vaccination for measles, mumps and rubella. Brain MRI images showed multiple bilateral hyperintense lesions in the white matter typical of acute disseminated encephalomyelitis (ADEM), an autoimmune demyelinating disorder with inflammatory lesions of the central nervous system, due to viral antigens or vaccines. In the mean time, because of patient's vague phenotypic manifestations, suggestive of a genetic defect, array comparative genomic hybridization was carried out which showed the presence of a microdeletion 22q11.21, linked to the DiGeorge syndrome. Our case suggests that pediatric cases of post-vaccination ADEM, in which neurological signs persist, should be investigated for genetic phenotypical features, in order to exclude the presence of a genetic syndrome or disease.
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PMID:Post vaccine acute disseminated encephalomyelitis as the first manifestation of chromosome 22q11.2 deletion syndrome in a 15-month old baby: a case report. 2517 44

We experienced a right-handed 53-year-old man who presented with disturbance of consciousness and fever. Herpes simplex encephalitis (HSE) was diagnosed based on the detection of herpes simplex virus DNA in the cerebrospinal fluid. The administration of acyclovir for 42 days improved his consciousness level. Drowsiness, fever and seizures reappeared 20 days after stopping acyclovir treatment (day 67) and he responded well to vidarabine and methylprednisolone pulse therapy. An assessment of aphasia on day 98 revealed transcortical sensory aphasia. Brain MRI showed lesion in the left temporal lobe, bilateral insular cortexes and bilateral frontal lobe. His higher brain dysfunction continued. On day 156, he underwent hip replacement arthroplasty under general anesthesia sevoflurane. His higher brain dysfunction rapidly improved thereafter. We concluded that the accelerated improvement in our patient's higher brain function was related to the protective effect of sevoflurane. Some reports also show the protective effects of sevoflurane in experimental allergic encephalomyelitis by inhibition of T cell activation. These protective and anti-inflammatory effects may explain the accelerated improvement in higher brain function after general anesthesia.
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PMID:[A 53-year-old man with herpes encephalitis showing acceleration of improvement in higher brain function after general anesthesia with sevoflurane: a case report]. 2528 30


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