- Status epilepticus in Hashimoto's encephalopathy. [Review]
- SSeizure 2019 Jun 13; 70:1-5
- Hashimoto's encephalopathy is a non-infectious, probably autoimmune encephalitis, characterized by varied signs coupled with elevated levels of anti-thyroid antibodies and, often, good response to co…
Hashimoto's encephalopathy is a non-infectious, probably autoimmune encephalitis, characterized by varied signs coupled with elevated levels of anti-thyroid antibodies and, often, good response to corticosteroid therapy. Seizures, namely focal and generalized tonic-clonic seizures, myoclonus, and status epilepticus, are frequent manifestations of Hashimoto's encephalopathy. Typically, seizures in these patients respond poorly to anti-epileptic drugs. Although cases of Hashimoto's encephalopathy with status epilepticus have been reported in literature, they vary in demographic, clinical, and treatment characteristics. We could not identify any systematic review summarizing the evidence in regard to factors predicting the occurrence of status epilepticus in Hashimoto's encephalopathy and the responsiveness of status epilepticus to anti-epileptic drugs, steroids and other immunomodulatory medication. Therefore, we performed an extensive review of the literature to identify and compare Hashimoto's encephalopathy patients presenting with and without status epilepticus. In 31 patients with status epilepticus and 104 patients without status epilepticus, thyroid status, anti-thyroid antibodies, cerebrospinal fluid analysis, brain MRI/CT/SPECT scan did not predict occurrence of status epilepticus of variable phenomenology. Status epilepticus did not respond to anti-epileptic drugs but completely remitted under steroid treatment, alone or in combination with other immunomodulatory medication, in about three quarter of patients. Generalized convulsive status epilepticus might be a factor negatively influencing outcome.
- Treatment with metformin in twelve patients with Lafora disease. [Letter]
- OJOrphanet J Rare Dis 2019 Jun 21; 14(1):149
- CONCLUSIONS: Metformin was overall safe in our small cohort of LD patients. Even though the clinical outcome was poor, this may be related to the advanced stage of disease in our cases and we cannot exclude a role of metformin in slowing down LD progression. Therefore, on the grounds of the preclinical data, we believe that treatment with metformin may be attempted as early as possible in the course of LD.
- Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation. [Journal Article]
- NNeuropediatrics 2019 Jun 21
- Mutations that disrupt the TBC1D24 presynaptic protein have been implicated in various neurological disorders including epilepsy, chronic encephalopathy, DOORS (deafness, onychodystrophy, osteodystro…
Mutations that disrupt the TBC1D24 presynaptic protein have been implicated in various neurological disorders including epilepsy, chronic encephalopathy, DOORS (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures) syndrome, nonsyndromic hearing loss, and myoclonus. We present the case of a 22-month-old male with infantile-onset paroxysmal episodes of facial and limb myoclonus. The episodes were linked to biallelic variants in exon 2 of the TBC1D24 gene that lead to amino acid changes (c.304C >T/p.Pro102Ser and c.410T > C/p.Val137Ala), each variant being inherited from a parent. Follow-up imaging in adolescence revealed widened right cerebellar sulci. We discuss the evolving landscape of TBC1D24 associated phenotypes; this case adds to a growing body of evidence linking this gene to movement disorders in children.
- Selective deep brain stimulation in the substantia nigra reduces myoclonus in progressive myoclonic epilepsy: a novel observation and short review of the literature. [Journal Article]
- EDEpileptic Disord 2019 Jun 21
- We report the case of a patient suffering from pharmacotherapy-resistant bilateral progressive myoclonic epilepsy (PME) showing a beneficial response upon selective deep brain stimulation (DBS) of th…
We report the case of a patient suffering from pharmacotherapy-resistant bilateral progressive myoclonic epilepsy (PME) showing a beneficial response upon selective deep brain stimulation (DBS) of the substantia nigra pars reticulata. As an individual experimental therapeutic approach, we implanted DBS electrodes in the transitional zone between the subthalamic nucleus (STN) and the substantia nigra pars reticulata (SNr). Electrode placement allowed for a selective stimulation of either the STN, SNr, or both targets. Postoperatively, we observed a moderate subjective and objective improvement in positive and negative myoclonus by high-frequency DBS of the STN/SNr transitional zone. However, a systematic exploration of different stimulation settings revealed that monopolar stimulation of the substantia nigra alone was more effective than high-frequency monopolar DBS of either the motor STN (monopolar) or stimulation of both targets (STN/SNr). This observation confirms earlier findings showing that patients with PME benefit from high-frequency DBS. However, in contrast to previous reports stimulating the STN/SNr transitional zone, our patient showed the most significant effect upon selective stimulation of the SNr. We propose that in patients undergoing DBS for myoclonus, at least one electrode contact should be placed in the SNr allowing for selective monopolar stimulation of this target.
- [MRI role in Creutzfeldt-Jakob disease: about a case]. [Case Reports]
- PAPan Afr Med J 2019; 32:95
- Creutzfeldt-jakob disease (CJD) is a very rare and fatal disease affecting the central nervous system. It is characterized by mental deterioration leading to progressive dementia, pyramidal and extra…
Creutzfeldt-jakob disease (CJD) is a very rare and fatal disease affecting the central nervous system. It is characterized by mental deterioration leading to progressive dementia, pyramidal and extrapyramidal symptoms as well as myoclonus. Early diagnosis is essential to prevent human-to-human transmission. We here report the case of a 62-year old patient in whom the diagnosis of sporadic CJD was retained based on his clinical status including dementia-related deterioration with myoclonus preceded by behavioral disorders, hallucinations and depression and on brain MRI data showing hyperintensities at the level of the striatum and the cortex on FLAIR and diffusion-weighted imaging sequences.
- Clinicopathological findings of an MM2-cortical-type sporadic Creutzfeldt-Jakob disease patient with cortical blindness during a course of glaucoma and age-related macular degeneration. [Journal Article]
- PPrion 2019; 13(1):124-131
- Here, we report an autopsy-verified patient with MM2-coritical-type sporadic Creutzfeldt-Jakob disease (MM2C-type sCJD) presenting cortical blindness during a course of glaucoma and age-related macul…
Here, we report an autopsy-verified patient with MM2-coritical-type sporadic Creutzfeldt-Jakob disease (MM2C-type sCJD) presenting cortical blindness during a course of glaucoma and age-related macular degeneration, and focus on the difficulties involved in early clinical diagnosis. An 83-year-old man was admitted to our hospital 15 months after the onset of cortical blindness, and 9 months after the onset of progressive dementia. Neurological examination revealed dementia, frontal signs, visual disturbance, dysphagia, myoclonus and exaggerated tendon reflexes in the four extremities. Diffusion-weighted MRI (DW-MRI) showed cortical hyperintensities predominantly in the bilateral occipital lobes. PRNP gene analysis showed no mutations with methionine homozygosity at codon 129. Cerebrospinal fluid (CSF) examination revealed elevation of 14-3-3 and total tau protein. The symptoms progressed gradually, and the patient died of aspiration pneumonia, 30 months after the onset. Neuropathological examination revealed extensive large confluent vacuole-type spongiform changes in the cerebral cortices. Prion protein (PrP) immunostaining showed perivascular and plaque-type PrP deposits. We diagnosed our patient as MM2C-type sCJD. There are two difficulties in the early clinical diagnosis of MM2C-type sCJD with ocular disease in the elderly; delayed utilization of DW-MRI, and accompaniment of ocular disease. For early diagnosis of MM2C-type sCJD, we conclude that clinician should perform DW-MRI for patients with isolated dementia or cortical visual disturbance.
- [Pathogenic gene variants and clinical phenotype features of 26 children with progressive myoclonic epilepsy]. [Journal Article]
- ZEZhonghua Er Ke Za Zhi 2019 Jun 02; 57(6):458-464
- CONCLUSIONS: PME include a group of diseases with genetic heterogeneity. Identification of the pathogenic gene variants of PME could help to predict the prognosis and guide the genetic counseling.
- Coexistence of Progressive Supranuclear Palsy With Pontocerebellar Atrophy and Myotonic Dystrophy Type 1. [Journal Article]
- JNJ Neuropathol Exp Neurol 2019 May 24
- Progressive supranuclear palsy with predominant cerebellar ataxia (PSP-C) has been reported as a rare clinical subtype, but the underlying pathology of its cerebellar ataxia remains unclear. Here, we…
Progressive supranuclear palsy with predominant cerebellar ataxia (PSP-C) has been reported as a rare clinical subtype, but the underlying pathology of its cerebellar ataxia remains unclear. Here, we report a patient with the coexistence of PSP with pontocerebellar atrophy and myotonic dystrophy type 1 (DM1). A 73-year-old man who was an asymptomatic carrier of DM1 (66 CTG repeats) started developing ataxic gait with multiple falls, visual blurring, double vision, and word finding difficulty at age 62 and was initially diagnosed with multiple system atrophy (MSA). Subsequently, the diagnosis was changed to PSP due to hypometric downward gaze, reduced blink frequency, symmetric bradykinesia, rigidity, and the absence of autonomic dysfunction. He eventually developed delayed grip opening with percussion myotonia at age 72. At autopsy, severe neuronal degeneration and astrogliosis in the pontocerebellar structures suggested MSA, but immunohistochemistry for α-synuclein did not reveal neuronal or glial cytoplasmic inclusions. Immunohistochemistry for phospho-tau and 4-repeat tau confirmed a neuropathological diagnosis of PSP with exceptionally numerous coiled bodies and threads in the pontine base and cerebellar white matter. This unusual distribution of 4-repeat tau pathology and neuronal degeneration with astrogliosis is a plausible clinicopathological substrate of PSP-C.
- Levofloxacin-Associated Neurotoxicity in a Patient with a High Concentration of Levofloxacin in the Blood and Cerebrospinal Fluid. [Case Reports]
- AAntibiotics (Basel) 2019 Jun 12; 8(2)
- Neurotoxicity is a rare and intolerable adverse effect associated with levofloxacin therapy, whose diagnosis has mostly been reported based on medical history rather than quantitative measures in the…
Neurotoxicity is a rare and intolerable adverse effect associated with levofloxacin therapy, whose diagnosis has mostly been reported based on medical history rather than quantitative measures in the blood. We report a 68-year-old man with levofloxacin-associated encephalopathy and myoclonus with high levels of levofloxacin in the blood and cerebrospinal fluid. After hemodialysis, these decreased, and his symptoms rapidly improved. An electroencephalogram was also normal. This case showed the concentration of levofloxacin to be clearly related to levofloxacin-associated neurotoxicity. Therefore, an estimation of its concentration may contribute to accurate diagnosis.
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- It twitches without kicking - An association between fragmentary myoclonus and arousal? [Journal Article]
- CNClin Neurophysiol 2019 Jun 01; 130(8):1358-1363
- CONCLUSIONS: We suggest FM represents a ubiquitous motor phenomenon occurring spontaneously during relaxed wakefulness and sleep, primarily in men and with advanced age.In women, particularly FMI25 may be a surrogate marker for more frequent arousals and sleep fragmentation.