Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Glutamic acid decarboxylase antibodies can rarely be associated with various neurological syndromes, which are usually present in adults. Here, we present 2 affected children. Our first patient had a diagnosis of epilepsy and presented with continuous involuntary movements and multifocal myoclonic seizures following an infection at the age of 9 months. Anti-glutamic acid decarboxylase antibodies were found in the serum and cerebrospinal fluid. A partial response was obtained from intravenous immunoglobulin, steroid, and plasmapheresis treatment. The other patient presented with a clinical picture of acute cerebellar ataxia and mutism at the age of 6 years and recovered fully following intravenous immunoglobulin treatment. Neurological findings due to anti-glutamic acid decarboxylase antibodies may be more common in children than previously thought, and achieving an early diagnosis can be important for prompt treatment.
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PMID:The association of anti-glutamic acid decarboxylase antibodies with different neurological findings in childhood. 2303 14

Seizures in cerebral X-linked adrenoleucodystrophy (X-ALD) more frequently occur in the early-onset compared to the late-onset form. Here we describe an adult in whom X-ALD deteriorated after head trauma and who developed epilepsy with progression of X-ALD. In a 50 year-old Caucasian male, cerebral X-ALD was diagnosed upon progressive gait disturbance, intellectual decline, elevated very-long chain fatty acids in the serum or leucocytes, cerebral MRI, showing extensive, symmetric, homogenous demyelination in the parieto-occipital areas, the splenium corporis callosum, the thalamus, the crura cerebri, the brain stem, and the pedunculi cerebelli, and the deletion c.1415-1416delAG in the ABCD1-gene. After a head trauma the phenotype deteriorated to mutism, dysphagia, and severe spastic quadruparesis. At an age of 50 years the patient experienced his first, self-limiting, tonic-clonic seizure during an infection, which is why valproic acid was started. Recurrence of seizures after discharge required repeated adaptation of the valproic acid-dosage. Adult X-ALD may be associated with late-onset seizures, which respond favourably to valproic acid. Since any type of seizure episode in adult-onset cerebral X-ALD is usually followed by neurological decline, prophylactic treatment with antiepileptic drugs should be considered not only in early-onset but also in adult-onset epilepsy in X-ALD.
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PMID:Epilepsy in adult X-linked adrenoleucodystrophy due to the deletion c.1415-1416delAG in exon 5 of the ABCD1-gene. 2315 58

We report the case of an adolescent girl with anti-N-methyl-D-aspartate-receptor (NMDAR) encephalitis who presented with focal seizures and hemichorea, followed by agitation, speech disturbance, mutism, and autonomic dysfunction. The institution of immunotherapy and removal of an ovarian cystadenofibroma led to full resolution of her symptoms with disappearance of serum NMDAR antibodies. This is the first report linking ovarian cystadenofibroma to anti-NMDAR encephalitis.
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PMID:Anti-N-methyl-d-aspartate encephalitis with ovarian cystadenofibroma. 2341 75

Here, we report a case of Hashimoto's encephalopathy (HE) mimicking Creutzfeldt-Jakob disease (CJD). A 57-year-old man was admitted to our hospital for status epilepticus. He had gradually presented personality change over the last two years. On admission, he was in state of akinetic mutism. He exhibited seizures on the left side of his body, including the face, and intermittent myoclonic movement. Routine laboratory tests showed no abnormalities, including thyroid functions. An EEG study showed typical periodic synchronous discharge (PSD). Brain MRI showed high-intensity areas in the bilateral frontal cortex, thalamus, and right insula on diffusion-weighted imaging (DWI). So, initially, sporadic CJD was suspected. However, there were no abnormalities in the caudate or putamen on MRI. Anti-TG and anti-TPO antibodies, as well as anti-NAE antibody were all positive. He was administered methylpredonisolone pulse therapy. Subsequently, his consciousness levels and EEG and MRI findings markedly improved. So, he was finally diagnosed with HE. HE should be considered in patients with PSD on EEG, even if the patients have typical MRI abnormalities of CJD. Anti-thyroid antibodies should be examined in such patients.
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PMID:[Hashimoto's encephalopathy presenting periodic synchronous discharge, as a differential diagnosis for Creutzfeldt-Jakob disease]. 2409 20

Anti-N-methyl-D-aspartate receptor encephalitis is a severe, potentially treatable, disorder and prognosis depends on early recognition and prompt immunotherapy. We report a case of anti-N-methyl-D-aspartate receptor encephalitis with atypical age and gender, and a characteristic electroencephalographic pattern that supported the diagnosis. A 66-year-old male presented with psychiatric disturbances and focal seizures with alteration of consciousness, and progressed to a state of akinetic mutism. Auxiliary tests were negative or non-specific for anti-NMDAR encephalitis. Electroencephalographic monitoring revealed a unique pattern; the extreme delta brush. The patient improved with immunotherapy and was asymptomatic at six months of follow-up. Ancillary testing was positive for anti-N-methyl-D-aspartate receptor antibodies. Extreme delta brush is a recently described electroencephalographic pattern presenting in only one third of patients with anti-N-methyl-D-aspartate receptor encephalitis. The identification of this pattern, as in our case, may guide early diagnosis and treatment of anti-N-methyl-D-aspartate receptor encephalitis.
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PMID:Extreme delta brush in a patient with anti-NMDAR encephalitis. 2431 33

Japanese encephalitis is frequent in Asia, with a severe prognosis, but rare in travelers. Culex mosquitoes transmit Japanese encephalitis virus. Risk factors are destination, duration of stay, summer and fall seasons, outdoor activities, and type of accommodation. We report the case of a French traveler to Nepal with neutralization-based serological confirmed Japanese encephalitis. He presented classical clinical (viral syndrome before an encephalitis status with behavioral disorder, global hypotonia, mutism, movement disorders, seizure, and coma), radiological (lesions of thalami, cortico-spinal tracts, and brainstem) and biological features (lymphocytic meningitis). Nowadays, the presence of Japanese encephalitis virus in Nepal, including mountain areas, is established but Japanese encephalitis remains rare in travelers returning from this area and neurologist physicians need to become familiar with this. We recommend vaccination for travelers spending a long period of time in Nepal and having at-risk outdoor activities.
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PMID:Japanese encephalitis in a French traveler to Nepal. 2440 7

Introduction. Bruxism is a movement disorder characterized by grinding and clenching of the teeth. Etiology of bruxism can be divided into three groups: psychosocial factors, peripheral factors, and pathophysiological factors. Methods. The clinical investigation was conducted at King Khaled Hospital in Hail, Saudi Arabia, in 2012. Results. A 16-year-old Saudi female was brought to the hospital in a comatose state and with generalized convulsive seizures secondary to acute anoxic encephalopathy. In the third week of hospitalization, while still in a state of akinetic mutism, she developed incessant bruxism which responded favorably to a GABA receptor agonist (baclofen). Conclusion. Our data support the hypothesis that bruxism emanates from imbalance or dysregulation of the neurotransmitter system. Larger scale studies will be needed to confirm this hypothesis.
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PMID:Bruxism associated with anoxic encephalopathy: successful treatment with baclofen. 2445 17

A 78-year-old man was admitted in the intensive care unit for epilepsy seizure (tonic-clonic seizure). Since three months, his wife reports motor dysfunction (weakness) and since two weeks, rapidly progressive changes in cognition (apraxia, akinetic mutism). The diagnosis of probable sporadic Creutzfeldt-Jakob on the basis of clinical, EEG and MRI lesions was made. Refining diagnostic criteria is probably needed, including the usefulness of repeated MRI with FLAIR and diffusion-weighted imaging.
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PMID:[Differential diagnosis of status epilepticus in intensive care: about one case of sporadic Creutzfeldt-Jakob]. 2470 99

Many children who present with these acquired impairments of communication have a clear preceding event such as an acquired brain injury from a road traffic accident. Children often respond differently in this situation to adult presentations. They may have a period of mutism when the prognosis might look poor and yet they subsequently make rapid progress and recover speech. They have greater potential for neural plasticity and language recovery, although they often have persisting difficulties in oral and written language. Alternatively, there may be a presentation with a paroxysmal event such as a seizure or a period of depressed consciousness, and the unusual behaviour that may accompany dysphasia and dysarthria may be misinterpreted in the child, whereas for the adult with the more common 'stroke-like' presentation, it would be immediately considered. Rarely the aphasia/dysphasia may itself be the paroxysmal event where actually recognising that the child's disrupted communication is the basis of any observed behaviours can be the greater challenge.
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PMID:Management of developmental speech and language disorders. Part 2: acquired conditions. 2599 May

Seizures coexists in children with intellectual disability and are often attributed to neural dysfunction associated with it. Often a careful clinical examination will unravel many diagnostic pointers as in this 8-year-old child with global development delay, deaf-mutism and moderate intellectual disability (mental retardation) who presented with seizures in the emergency department. General examination revealed dysmorphic features like anonychia, low set ears, long philtrum, large lower lips and abnormal dermatoglyphics with features of osteodystrophy on radiology. She was diagnosed as a case of DOORS syndrome, an extremely rare genetic condition affecting the TCA cycle, with just over 40 cases reported, worldwide till date, since its first description in 1961. Her genetic analysis did not reveal the common TBC1D24 mutation in 16p13.3 resulting often from substitutions affecting the arginine at position 242, in spite of all classical clinical features associated with it, suggesting genetic heterogeneity in DOORS syndrome. Though four year follow-up revealed changes in seizure pattern, there was no optic atrophy, change in IQ or peripheral nerve problem. This probably suggests that children with typical clinical features and TBC1D24 mutations may have more progressive deterioration than those without it and newer molecular techniques may identify unexplained phenotypic expressions.
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PMID:Absence of Nails, Deaf-mutism, Seizures, and Intellectual Disability: A Case Report. 2602 14


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