scholarly journals SCN8A Encephalopathy: Case Report and Literature Review

2021 ◽  
Vol 13 (2) ◽  
pp. 143-150
Author(s):  
Hueng-Chuen Fan ◽  
Hsiu-Fen Lee ◽  
Ching-Shiang Chi
Keyword(s):  
Brain Magnetic Resonance Imaging ◽  
Epileptic Encephalopathy ◽  
Missense Mutations ◽  
Resonance Imaging ◽  
Biochemical Tests ◽  
Genetic Sequencing ◽  
Intractable Seizures ◽  
Main Voltage ◽  
Magnetic Resonance Imaging Mri ◽  
Electroencephalogram Eeg

Epileptic encephalopathy is a condition resulting from extreme forms of intractable childhood epilepsy. The disease can cause severe delays in cognitive, sensory, and motor function development, in addition to being fatal in some cases. Missense mutations of SCN8A, which encodes Nav1.6, one of the main voltage-gated sodium channel subunits in neurons and muscles, have been linked to early infantile SCN8A encephalopathy. Herein, we report the case of a 5-month-old girl with SCN8A encephalopathy with a novel missense mutation. Apart from intractable seizures and autistic phenotypes, the results of blood and biochemical tests, electroencephalogram (EEG) results, and brain magnetic resonance imaging (MRI) results were all normal. As the phenotypes caused by these mutations cannot be identified by any clinical, neuroimaging, or electrophysiological features, genetic sequencing should be considered to identify the underlying genetic causes. Although phenytoin is recommended as a last-resort treatment for SCN8A encephalopathy, the administration of the oxcarbazepine, instead of phenytoin, mitigated this patient’s intractable seizures.

scholarly journals RHOBTB2 gene associated epilepsy and paroxysmal movement disorder: two cases report and literature review

2021 ◽  
Vol 3 (1) ◽  
Author(s):  
Xueyang Niu ◽  
Yan Sun ◽  
Ying Yang ◽  
Miaomiao Cheng ◽  
Quanzhen Tan ◽  
...  
Keyword(s):  
Movement Disorders ◽  
Brain Mri ◽  
Brain Magnetic Resonance Imaging ◽  
Epileptic Encephalopathy ◽  
Facial Dysmorphism ◽  
Pathogenic Genes ◽  
Magnetic Resonance Imaging Mri ◽  
Case Presentations ◽  
Focal Status Epilepticus ◽  
Electroencephalogram Eeg

Abstract Background RHOBTB2 gene is associated with developmental and epileptic encephalopathy-64(DEE-64), which is characterized by epilepsy, developmental delay, microcephaly, unspecific facial dysmorphism, and paroxysmal movement disorders. Most previous studies showed that the phenotypes of RHOBTB2 gene include developmental and epileptic encephalopathy(DEE) and DEE with paroxysmal movement disorders. Only one study showed that patient with RHOBTB2 variant had paroxysmal movement disorders with no epilepsy. Case presentations Two cases with RHOBTB2 variants are presented here: Case one was diagnosed as DEE, he had recurrent afebrile focal status epilepticus and paroxysmal extrapyramidal symptoms in infancy. Interictal electroencephalogram (EEG) showed focal discharges. Brain magnetic resonance imaging (MRI) showed cortical dysplasia. Epilepsy of case one was refractory. Nevertheless, case two only showed paroxysmal movement disorders alone in adolescence. Video EEG showed focal discharges during an interictal dystonic episode and he brain MRI was normal. Conclusion The phenotypes of RHOBTB2 gene include DEE, paroxysmal movement disorders, and DEE with paroxysmal movement disorders. RHOBTB2 can be one of the pathogenic genes of paroxysmal movement disorders.

scholarly journals A case report on Hashimoto’s encephalopathy: an autoimmune neuroendocrine disorder

2020 ◽  
Vol 8 (1) ◽  
pp. 131
Author(s):  
Abarna Lakshmi R. ◽  
Rajganesh Ravichandran ◽  
Jaya Shree D. ◽  
Raveena P. B. ◽  
Nikhil Cherian Sam ◽  
...  
Keyword(s):  
Brain Magnetic Resonance Imaging ◽  
Thyroid Function Test ◽  
Thyroid Antibodies ◽  
Good Recovery ◽  
Resonance Imaging ◽  
High Concentration ◽  
Hashimoto’S Encephalopathy ◽  
Function Test ◽  
Magnetic Resonance Imaging Mri ◽  
Electroencephalogram Eeg

Hashimoto’s encephalopathy (HE) is a rare neuroendocrine disorder with high titers of the thyroid antibodies. HE is more common to women than in men with a ratio of approximately 5:1. The estimated prevalence of HE was 2 per 100,000 people. We present a case of Hashimoto’s encephalopathy in a 24-year-old male patient known case of hypothyroidism admitted with the complaints of unconsciousness, and further developed seizure during admission. Brain magnetic resonance imaging (MRI) was normal, electroencephalogram (EEG) revealed slow diffusion, and the serum thyroid function test showed a high concentration of anti-thyroid antibodies. The patient had a good recovery after the management with steroid therapy.  

scholarly journals Identifying a Common Functional Framework for Apathy Large-Scale Brain Network

2021 ◽  
Vol 11 (7) ◽  
pp. 679
Author(s):  
Vincenzo Alfano ◽  
Mariachiara Longarzo ◽  
Giulia Mele ◽  
Marcello Esposito ◽  
Marco Aiello ◽  
...  
Keyword(s):  
Large Scale ◽  
Brain Magnetic Resonance Imaging ◽  
Brain Network ◽  
Neural Pathways ◽  
Resonance Imaging ◽  
Daily Life Activities ◽  
Functional Differences ◽  
Central Gyrus ◽  
Magnetic Resonance Imaging Mri ◽  
Disease Specific

Apathy is a neuropsychiatric condition characterized by reduced motivation, initiative, and interest in daily life activities, and it is commonly reported in several neurodegenerative disorders. The study aims to investigate large-scale brain networks involved in apathy syndrome in patients with frontotemporal dementia (FTD) and Parkinson’s disease (PD) compared to a group of healthy controls (HC). The study sample includes a total of 60 subjects: 20 apathetic FTD and PD patients, 20 non apathetic FTD and PD patients, and 20 HC matched for age. Two disease-specific apathy-evaluation scales were used to measure the presence of apathy in FTD and PD patients; in the same day, a 3T brain magnetic resonance imaging (MRI) with structural and resting-state functional (fMRI) sequences was acquired. Differences in functional connectivity (FC) were assessed between apathetic and non-apathetic patients with and without primary clinical diagnosis revealed, using a whole-brain, seed-to-seed approach. A significant hypoconnectivity between apathetic patients (both FTD and PD) and HC was detected between left planum polare and both right pre- or post-central gyrus. Finally, to investigate whether such neural alterations were due to the underlying neurodegenerative pathology, we replicated the analysis by considering two independent patients’ samples (i.e., non-apathetic PD and FTD). In these groups, functional differences were no longer detected. These alterations may subtend the involvement of neural pathways implicated in a specific reduction of information/elaboration processing and motor outcome in apathetic patients.

Epilepsy in Propionic Acidemia: Case Series of 14 Saudi Patients

2018 ◽  
Vol 33 (11) ◽  
pp. 713-717 ◽  
Author(s):  
Afnan AlGhamdi ◽  
Muhammad Talal Alrifai ◽  
Abdullah I. Al Hammad ◽  
Fuad Al Mutairi ◽  
Abdulrahman Alswaid ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Case Series ◽  
Brain Magnetic Resonance Imaging ◽  
Propionic Acidemia ◽  
Resonance Imaging ◽  
Mri Findings ◽  
Epileptiform Discharges ◽  
Magnetic Resonance Imaging Mri ◽  
Autosomal Recessive Manner ◽  
Delayed Myelination

Propionic acidemia is an inborn error of metabolism that is inherited in an autosomal recessive manner. It is characterized by a deficient propionyl-CoA carboxylase due to mutations in either of its beta or alpha subunits. In the literature, there is a clear association between propionic acidemia and epilepsy. In this cohort, we retrospectively reviewed the data of 14 propionic acidemia patients in Saudi Arabia and compared the findings to those of former studies. Six of the 14 (43%) patients developed epileptic seizure, mainly focal seizures. All patients were responsive to conventional antiepileptic drugs as their seizures are controlled. The predominant electroencephalographic (EEG) findings were diffuse slowing in 43% and multifocal epileptiform discharges in 14% of the patients. In 1 patient, burst suppression pattern was detected, a pattern never before reported in patients with propionic acidemia. Brain magnetic resonance imaging (MRI) findings mainly consisted of signal changes of the basal ganglia (36%), generalized brain atrophy (43%), and delayed myelination (43%).The most common genotype in our series is the homozygous missense mutation in the PCCA gene (c.425G>A; p. Gly142Asp). However, there is no clear genotype–seizure correlation. We conclude that seizure is not an uncommon finding in patients with propionic acidemia and not difficult to control. Additional studies are needed to further elaborate on genotype–seizure correlation.

scholarly journals Extra-pontine myelinolysis secondary to hypernatremia induced by postpartum water restriction

2017 ◽  
Vol 30 (1) ◽  
pp. 84-87 ◽  
Author(s):  
A Chhabra ◽  
R Kaushik ◽  
RM Kaushik ◽  
D Goel
Keyword(s):  
Postpartum Period ◽  
Resonance Imaging ◽  
Water Restriction ◽  
Delta Waves ◽  
Steady Improvement ◽  
Pontine Myelinolysis ◽  
History Of ◽  
Magnetic Resonance Imaging Mri ◽  
Electroencephalogram Eeg ◽  
Progressive Weakness

A young adult female with restricted water intake during the postpartum period presented with history of progressive weakness, dizziness and tendency to fall with generalized slowing of movement. On examination, patient was anaemic, febrile and stuporous. Investigations revealed hypernatremia, delta waves in electroencephalogram (EEG) and features suggestive of extra-pontine myelinolysis on magnetic resonance imaging (MRI) of brain. After correcting hypernatremia and instituting anti-cholinergic therapy, there was a gradual but steady improvement in neurological symptoms of the patient over a period of one week and the patient was discharged in a conscious, oriented and ambulant state. As such, neuroimaging findings can be crucial in diagnosing hypernatremic encephalopathy in the postpartum period.

scholarly journals Can we evaluate cranial aneurysms on conventional brain magnetic resonance imaging?

2016 ◽  
Vol 7 (01) ◽  
pp. 83-86 ◽  
Author(s):  
Emine Caliskan ◽  
Yeliz Pekcevik ◽  
Adnan Kaya
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Characteristic Curve ◽  
Brain Mri ◽  
Brain Magnetic Resonance Imaging ◽  
Kappa Statistics ◽  
Resonance Imaging ◽  
Vascular Structures ◽  
Magnetic Resonance Imaging Mri ◽  
Age Range

ABSTRACT Purpose: To evaluate the contribution of conventional brain magnetic resonance imaging (MRI) for the determination of intracranial aneurysms. Materials and Methods: Brain MRI and computed tomography angiography (CTA) of 45 patients (29 women and 16 men; age range, 32–80 years) with aneurysm were analyzed. A comparison was made between brain MRI and CTA based on size and presence of aneurysm. The comparisons between MRI and CTA were investigated through Bland-Altman graphics, receiver operating characteristic curve, and Kappa statistics. Results: Fifty-seven aneurysms were evaluated. Forty-five percent of 57 aneurysms on CTA were detected on conventional brain MRI. A significant correlation was found between CTA and brain MRI in the diagnosis of aneurysm (P < 0.05). In an analysis of the size measurement, a significant correlation was observed between CTA and brain MRI. Seventy-seven percent of aneurysms <4 mm was not detected and the efficiency of MRI in the detection of aneurysms <4 mm was found to be low. Conclusion: Aneurysms can also be appreciated on conventional brain MRI, and vascular structures should be reviewed carefully while analyzing brain MRI.

Rotavirus-Induced Neonatal Epileptic Encephalopathy—A Disease Spectrum Illustrated by Monochorionic Twins

2019 ◽  
Vol 51 (01) ◽  
pp. 062-067 ◽  
Author(s):  
Esther M. Hopmans ◽  
Astrid van der Heide ◽  
Pui Khi Chung ◽  
Daniëlle Brinkman ◽  
Mariet C.W. Feltkamp ◽  
...  
Keyword(s):  
White Matter ◽  
Epileptic Encephalopathy ◽  
Neonatal Seizures ◽  
Monochorionic Twins ◽  
Rotavirus Infection ◽  
Disease Spectrum ◽  
Pattern Characteristic ◽  
Magnetic Resonance Imaging Mri ◽  
Electroencephalogram Eeg ◽  
Eeg Pattern

AbstractRotavirus has been associated with neonatal seizures and specific white matter magnetic resonance imaging (MRI) abnormalities. We describe monochorionic twins who not only tested positive for rotavirus with these white matter MRI abnormalities but who also showed an electroencephalogram (EEG) pattern characteristic of early infantile epileptic encephalopathy (EIEE), which has so far solely been described in epileptic encephalopathies with a poor prognosis. This report suggests that rotavirus infection must be added to the list of causes of EIEE EEG, and that the outcome then is likely more favorable. As MRI and EEG signs of rotavirus encephalopathy were present in one twin with only subtle neurologic symptoms, rotavirus may well cause insidious central nervous system complications more often. We suggest considering rotavirus infection in neonates presenting with seizures, and to add rotavirus infection to the differential diagnosis of EIEE.

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