scholarly journals Dravet Syndrome -A case report from Aseer, Saudi Arabia

2020 ◽  
Vol 19 (2) ◽  
pp. 315-318
Author(s):  
Maryam Mohammed Behir ◽  
Muhammad Saeed ◽  
Aesha Farheen Siddiqui
Keyword(s):  
Treatment Plan ◽  
Correct Diagnosis ◽  
Medical Science ◽  
Febrile Convulsion ◽  
Epileptic Encephalopathy ◽  
Dravet Syndrome ◽  
Complex Partial Seizures ◽  
Developmental Regression ◽  
Second Year ◽  
Atypical Absence

Dravet syndrome (DS) is an epileptic encephalopathy that presents with protracted seizures in infancy, associated with fever, and frequently categorized as febrile seizure at first presentation. In the second year, myoclonia, atypical absence and complex partial seizures develop. The correct diagnosis of DS and appropriate follow-up are delayed until after appearance of signs of developmental regression in the second year of life. Timely detection and diagnosis of DS followed by management with suitable anticonvulsants and treatment plan may reduce the seizure burden and improve long-term developmental outcome. We present a case of 2 years old female with recurrent attacks of generalized tonic colonic convulsion after 1st febrile convulsion diagnosed as Dravet syndrome. The diagnosis was based on history and gene study (SCN1A). Bangladesh Journal of Medical Science Vol.19(2) 2020 p.315-318

scholarly journals Dravet syndrome associated mutations in GABRA1, GABRB2 and GABRG2 define the genetic landscape of defects of GABAA receptors

2021 ◽  
Author(s):  
Ciria C Hernandez ◽  
XiaoJuan Tian ◽  
Ningning Hu ◽  
Wangzhen Shen ◽  
Mackenzie A Catron ◽  
...  
Keyword(s):  
Gabaa Receptor ◽  
De Novo ◽  
Epileptic Encephalopathy ◽  
Dravet Syndrome ◽  
First Year ◽  
Genes Encoding ◽  
Genetic Landscape ◽  
Clonic Seizures ◽  
Trafficking Defects ◽  
First Year Of Life

Abstract Dravet syndrome is a rare, catastrophic epileptic encephalopathy that begins in the first year of life, usually with febrile or afebrile hemiclonic or generalized tonic-clonic seizures followed by status epilepticus. De novo variants in genes that mediate synaptic transmission such as SCN1A and PCDH19 are often associated with Dravet syndrome. Recently, GABAA receptor subunit genes (GABRs) encoding α1 (GABRA1), β3 (GABRB3) and γ2 (GABRG2), but not β2 (GABRB2) or β1 (GABRB1), subunits are frequently associated with Dravet syndrome or Dravet syndrome-like phenotype. We performed next generation sequencing on 870 patients with Dravet syndrome and identified nine variants in three different GABRs. Interestingly, the variants were all in genes encoding the most common GABAA receptor, the α1β2γ2 receptor. Mutations in GABRA1 (c.644T>C, p.L215P; c.640C>T, p.R214C; c.859G>A; V287I; c.641G>A, p.R214H) and GABRG2 (c.269C>G, p.T90R; c.1025C>T, p.P342L) presented as de novo cases, while in GABRB2 two variants were de novo (c.992T>C, p.F331S; c.542A>T, p.Y181F) and one was autosomal dominant and inherited from the maternal side (c.990_992del, p.330_331del). We characterized the effects of these GABR variants on GABAA receptor biogenesis and channel function. We found that defects in receptor gating were the common deficiency of GABRA1 and GABRB2 Dravet syndrome variants, while mainly trafficking defects were found with the GABRG2 (c.269C>G, p.T90R) variant. It seems that variants in α1 and β2 subunits are less tolerated than in γ2 subunits, since variant α1 and β2 subunits express well but were functionally deficient. This suggests that all of these GABR variants are all targeting GABR genes that encode the assembled α1β2γ2 receptor, and regardless of which of the three subunits are mutated, variants in genes coding for α1, β2 and γ2 receptor subunits make them candidate causative genes in the pathogenesis of Dravet syndrome.

scholarly journals Improving early diagnosis of rare diseases using Natural Language Processing in unstructured medical records: an illustration from Dravet syndrome

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Tommaso Lo Barco ◽  
Mathieu Kuchenbuch ◽  
Nicolas Garcelon ◽  
Antoine Neuraz ◽  
Rima Nabbout
Keyword(s):  
Natural Language Processing ◽  
Early Diagnosis ◽  
Natural Language ◽  
Language Processing ◽  
Rare Diseases ◽  
Febrile Seizures ◽  
Epileptic Encephalopathy ◽  
Dravet Syndrome ◽  
Written Information ◽  
Medical Reports

Abstract Background The growing use of Electronic Health Records (EHRs) is promoting the application of data mining in health-care. A promising use of big data in this field is to develop models to support early diagnosis and to establish natural history. Dravet Syndrome (DS) is a rare developmental and epileptic encephalopathy that commonly initiates in the first year of life with febrile seizures (FS). Age at diagnosis is often delayed after 2 years, as it is difficult to differentiate DS at onset from FS. We aimed to explore if some clinical terms (concepts) are significantly more used in the electronic narrative medical reports of individuals with DS before the age of 2 years compared to those of individuals with FS. These concepts would allow an earlier detection of patients with DS resulting in an earlier orientation toward expert centers that can provide early diagnosis and care. Methods Data were collected from the Necker Enfants Malades Hospital using a document-based data warehouse, Dr Warehouse, which employs Natural Language Processing, a computer technology consisting in processing written information. Using Unified Medical Language System Meta-thesaurus, phenotype concepts can be recognized in medical reports. We selected individuals with DS (DS Cohort) and individuals with FS (FS Cohort) with confirmed diagnosis after the age of 4 years. A phenome-wide analysis was performed evaluating the statistical associations between the phenotypes of DS and FS, based on concepts found in the reports produced before 2 years and using a series of logistic regressions. Results We found significative higher representation of concepts related to seizures’ phenotypes distinguishing DS from FS in the first phases, namely the major recurrence of complex febrile convulsions (long-lasting and/or with focal signs) and other seizure-types. Some typical early onset non-seizure concepts also emerged, in relation to neurodevelopment and gait disorders. Conclusions Narrative medical reports of individuals younger than 2 years with FS contain specific concepts linked to DS diagnosis, which can be automatically detected by software exploiting NLP. This approach could represent an innovative and sustainable methodology to decrease time of diagnosis of DS and could be transposed to other rare diseases.

In Support of Initial Parenteral Medical Management of Intrathecal Baclofen Withdrawal in Spasticity Patients

2021 ◽  
pp. 875512252110392
Author(s):  
Brian L. LaRowe ◽  
Vicki M. Nussbaum
Keyword(s):  
Case Reports ◽  
Treatment Plan ◽  
Correct Diagnosis ◽  
Treatment Protocol ◽  
Patient Characteristics ◽  
Clinical Problem ◽  
Clinical Situation ◽  
Intrathecal Baclofen ◽  
Wide Range ◽  
Baclofen Withdrawal

Background: Spasticity may present as a wide range of symptoms and conditions. With this protean presentation, a consensus regarding the best course of treatment does not exist. Those patients most severely affected may receive significant benefit from intrathecal baclofen delivery. However, this therapy may itself lead to patient injury in the event of withdrawal. Objective: Withdrawal from intrathecal baclofen may devolve rapidly into a situation in which the patient may incur significant morbidity and even death. A focused, prompt treatment plan would afford the patient the best possible outcome. Methods: The medical literature was reviewed for reports of plans of treatment of baclofen withdrawal and the results obtained. The nature of this problem does not lend itself to a typical study design, depending on case reports and basic pharmacological science application. The paucity of such reports severely limits categorical comparison of patient characteristics and clinical circumstances. Clinical situations, patient characteristics, and therapies were considered and compared. Outcomes of the varied treatments were evaluated for efficacy. Results: Inaccurate diagnoses, delayed correct diagnoses, and the absence of a consistent, treatment plan contributed to widely disparate outcomes. Prompt, correct diagnosis and intensive care unit–based continuous benzodiazepine infusion with titration led to a controlled clinical situation and maximized patient outcomes. Conclusions: Patients going through withdrawal from intrathecal baclofen achieved best outcomes when treated with a continuous infusion and titration of an intravenous benzodiazepine. A well-defined treatment protocol employing this management, reporting serial outcomes, would enable further refinement of the treatment of this clinical problem.

scholarly journals Epileptic Encephalopathies: An Overview

2012 ◽  
Vol 2012 ◽  
pp. 1-8 ◽  
Author(s):  
Sonia Khan ◽  
Raidah Al Baradie
Keyword(s):  
Slow Wave Sleep ◽  
Epileptic Encephalopathy ◽  
Dravet Syndrome ◽  
Management Options ◽  
Epileptic Encephalopathies ◽  
Age Related ◽  
Ohtahara Syndrome ◽  
Cerebral Dysfunction ◽  
Epileptic Syndromes

Epileptic encephalopathies are an epileptic condition characterized by epileptiform abnormalities associated with progressive cerebral dysfunction. In the classification of the International League Against Epilepsy eight age-related epileptic encephalopathy syndromes are recognized. These syndromes include early myoclonic encephalopathy and Ohtahara syndrome in the neonatal period, West syndrome and Dravet syndrome in infancy, myoclonic status in nonprogressive encephalopathies, and Lennox-Gastaut syndrome, Landau-Kleffner syndrome, and epilepsy with continuous spike waves during slow wave sleep in childhood and adolescences. Other epileptic syndromes such as migrating partial seizures in infancy and severe epilepsy with multiple independent spike foci may be reasonably added. In this paper, we provide an overview of epileptic encephalopathies including clinical neurophysiological features, cognitive deterioration, and management options especially that these conditions are generally refractory to standard antiepileptic drugs.

scholarly journals DECLINE OF CLINICAL ART AND TECNOLOGICAL MEDICINE BOOM

2021 ◽  
pp. 123-133
Author(s):  
José Antonio Rodríguez Montes
Keyword(s):  
Physical Examination ◽  
Medical History ◽  
Medical Practice ◽  
New Technologies ◽  
Clinical Skills ◽  
Treatment Plan ◽  
Correct Diagnosis ◽  
Bedside Teaching ◽  
The Past

Currently there is a consensus that the clinical art have been greatly deteriorating during the past 50 years. This problem has raised worldwide attention through as increase in publications, courses, symposia and congress. The erosion of bedside teaching and the consequent decline of clinical skills, notably wrongfull and inadequate use of new technologies. At as result, it becomes difficult if not impossible obtain an appropiate collection of the synptoms sufferick for the sick. Together with the medical history, the physical examination is mandatory for the correct diagnosis and developing the treatment plan. In this paper, the decline of clinical art is exposed and how this ancient heritage of medical practice can be recovered.

scholarly journals Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements

2020 ◽  
Vol 36 (2) ◽  
pp. 93-98
Author(s):  
Imane Abdelmoumen ◽  
Sandra Jimenez ◽  
Ignacio Valencia ◽  
Joseph Melvin ◽  
Agustin Legido ◽  
...  
Keyword(s):  
Movement Disorder ◽  
Puerto Rican ◽  
Cerebellar Atrophy ◽  
Intractable Epilepsy ◽  
Brain Magnetic Resonance Imaging ◽  
Epileptic Encephalopathy ◽  
Pathogenic Variant ◽  
Global Developmental Delay ◽  
Neurodevelopmental Outcomes ◽  
Developmental Regression

Objective: To describe a founder mutation effect and the clinical phenotype of homozygous FRRS1L c.737_739delGAG (p.Gly246del) variant in 15 children of Puerto Rican (Boricua) ancestry presenting with early infantile epileptic encephalopathy (EIEE-37) with prominent movement disorder. Background: EIEE-37 is caused by biallelic loss of function variants in the FRRS1L gene, which is critical for AMPA-receptor function, resulting in intractable epilepsy and dyskinesia. Methods: A retrospective, multicenter chart review of patients sharing the same homozygous FRRS1L (p.Gly246del) pathogenic variant identified by clinical genetic testing. Clinical information was collected regarding neurodevelopmental outcomes, neuroimaging, electrographic features and clinical response to antiseizure medications. Results: Fifteen patients from 12 different families of Puerto Rican ancestry were homozygous for the FRRS1L (p.Gly246del) pathogenic variant, with ages ranging from 1 to 25 years. The onset of seizures was from 6 to 24 months. All had hypotonia, severe global developmental delay, and most had hyperkinetic involuntary movements. Developmental regression during the first year of life was common (86%). Electroencephalogram showed hypsarrhythmia in 66% (10/15), with many older children evolving into Lennox-Gastaut syndrome. Six patients demonstrated progressive volume loss and/or cerebellar atrophy on brain magnetic resonance imaging (MRI). Conclusions: We describe the largest cohort to date of patients with epileptic encephalopathy. We estimate that 0.76% of unaffected individuals of Puerto Rican ancestry carry this pathogenic variant due to a founder effect. Children homozygous for the FRRS1L (p.Gly246del) Boricua variant exhibit a very homogenous phenotype of early developmental regression and epilepsy, starting with infantile spasms and evolving into Lennox-Gastaut syndrome with hyperkinetic movement disorder.

Frontoethmoidal Mucoceles: CT and MRI Evaluation

2007 ◽  
Vol 20 (5) ◽  
pp. 586-596 ◽  
Author(s):  
I. Tsitouridis ◽  
M. Michaelides ◽  
A. Bintoudi ◽  
V. Kyriakou
Keyword(s):  
Signal Intensity ◽  
Treatment Plan ◽  
Correct Diagnosis ◽  
Brain Parenchyma ◽  
High Signal ◽  
Intermediate Signal Intensity ◽  
Multiplanar Imaging ◽  
Previous Trauma ◽  
Peripheral Enhancement ◽  
Ct And Mri

Paranasal sinus mucocele is an expanded, airless, mucus-filled sinus caused by obstruction of the sinus ostium. It is a benign slow growing epithelial lined lesion, bulging against adjacent anatomical structures, without infiltrating them. The purpose of our study is to describe the CT and MR findings in 19 patients (ten women, nine men, 18–72 years, mean age: 48.1) with surgically confirmed frontoethmoidal mucoceles between 1999–2005. CT scans displayed mucoceles as non enhancing soft tissue density lesions, generally isodense to the brain parenchyma, expanding the sinuses in most cases, eroding adjacent bones and extending intraorbitally or intracranially. Signal intensity in T2WI and T1WI MR images varied, but generally lesions had high signal intensity in T2WI and low to intermediate signal intensity in T1WI. Some of the lesions demonstrated regular linear peripheral enhancement after administration of contrast medium. The causes of mucoceles included mucosal thickening from chronic sinusitis, adhesions from previous operation in the nasal cavity, previous trauma, small nasal polyps and a small osteoma, while in six patients (31.5%) the cause of the mucocele remained unrecognized even after surgery. No underlying malignant tumor was found in any of the cases as the cause of obstruction. CT and MRI established the correct diagnosis in all patients. CT was more sensitive in determining bone erosions, while MRI had the advantage of multiplanar imaging and was much more sensitive for differentiating mucocele from a tumor on the basis of MR signal intensity characteristics. In conclusion, CT and MRI are the methods of choice for diagnosing mucoceles of the paranasal sinuses and are of major importance for the treatment plan. Each method seems to have its own advantages and should be used as complementary investigations of sinonasal pathology. Enhanced CT scan should only be performed in the absence or contraindication for enhanced MR imaging.

scholarly journals Polymerase Chain Reaction (PCR): A Short Review

2013 ◽  
Vol 4 (1) ◽  
pp. 30-36 ◽  
Author(s):  
Md Tahminur Rahman ◽  
Muhammed Salah Uddin ◽  
Razia Sultana ◽  
Arumina Moue ◽  
Muntahina Setu
Keyword(s):  
Correct Diagnosis ◽  
Medical Science ◽  
Genetic Diagnosis ◽  
High Specificity ◽  
Short Review ◽  
Laboratory Diagnosis ◽  
Molecular Techniques ◽  
Advantages And Disadvantages ◽  
Specificity And Sensitivity ◽  
Diagnostic Modalities

Diagnosis of disease now a days is mostly laboratory dependent. Due to recent advances in medical science and molecular biology, most of the diagnosis of uncommon, complicated, unusual presentation of disease has left the option of molecular diagnosis as the number one diagnostic modalities. Many molecular techniques are now being widely used throughout the  world including PCR, flow cytometry, tissue microarray, different blots, and genetic diagnosis. Among these PCR is the most widely accepted, commonly used diagnostic modalities with very high specificity and sensitivity for correct diagnosis. We have reviewed the principle, application, advantages and disadvantages of PCR in laboratory diagnosis of disease. DOI: http://dx.doi.org/10.3329/akmmcj.v4i1.13682 AKMMC J 2013: 4(1): 30-36    

Metastasis of follicular variant of papillary thyroid carcinoma masquerading as primary temporal bone tumour

2011 ◽  
Vol 125 (5) ◽  
pp. 528-532 ◽  
Author(s):  
S C Hugh ◽  
D Enepekides ◽  
J Wong ◽  
R Yeung ◽  
V Y W Lin
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Bone Mass ◽  
Temporal Bone ◽  
Treatment Plan ◽  
Correct Diagnosis ◽  
Bone Tumour ◽  
Final Diagnosis ◽  
Papillary Thyroid ◽  
Follicular Variant

AbstractObjective:We describe the first published case of papillary thyroid carcinoma metastatic to the temporal bone.Case report:A 64-year-old woman presented with a large left temporal bone mass centred in the jugular foramen, initially thought to be a paraganglioma or schwannoma. She was simultaneously being investigated for a left-sided thyroid nodule, which was found to be unremarkable on repeated fine needle aspiration cytology. A biopsy of the temporal bone mass indicated that it was of thyroid origin. The patient underwent total thyroidectomy, which enabled a final diagnosis of follicular-variant papillary thyroid carcinoma with metastasis to the temporal bone.Conclusion:Although biopsy is not the usual management for many types of temporal bone mass, pathological investigation is recommended if the tumour has an atypical growth rate, location, spread and/or radiological features. Metastasis of papillary thyroid carcinoma to the skull base is extremely rare, and correct diagnosis is essential in order to pursue an effective treatment plan.

scholarly journals P.098 The Epilepsy Surgery Experience in Children with Infantile Spasms at the Hospital for Sick Children

2021 ◽  
Vol 48 (s3) ◽  
pp. S47-S47
Author(s):  
J Gettings ◽  
S Shafi ◽  
J Boyd ◽  
O Snead ◽  
J Rutka ◽  
...  
Keyword(s):  
Epilepsy Surgery ◽  
Previous History ◽  
Case Series ◽  
Epileptic Encephalopathy ◽  
Infantile Spasms ◽  
Seizure Outcome ◽  
Retrospective Case ◽  
Developmental Regression ◽  
Irreversible Effects ◽  
Sick Children

Background: Infantile spasms (IS) is an epileptic encephalopathy, characterized by epileptic spasms, hypsarrhythmia, and developmental regression. This is a retrospective case series detailing the experience in children with IS who have undergone epilepsy surgery at The Hospital for Sick Children (HSC). Methods: Records of 223 patients from HSC were reviewed. Patients were included if they had a current or previous history of IS with a lesion detected on MRI/PET scan who underwent epilepsy surgery. Results: Nineteen patients were included. The etiology of IS was encephalomalacia in six patients (32%), malformations of cortical development in 11 patients (58%), atypical hypoglycaemic injury in one patient (0.5%), and partial hemimegalencephaly in one patient (0.5%). The median age at the onset of IS was five months. The median age at surgery was 18 months. Nine patients (47%) underwent hemispherectomy and 10 patients (53%) underwent lobectomy/lesionectomy. Fifteen patients (79%) were considered ILAE Seizure Outcome Class 1. Developmental outcome was improved in 14/19 (74%) and stable in 5/19 (26%) patients. Conclusions: Even with a generalized EEG pattern such as hypsarrhythmia, patients should be considered for focal resective surgery. Early surgical intervention shortens the duration of active epilepsy thus limiting the potentially irreversible effects of on-going seizures.

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