MO1010CLINICAL VARIABILITY OF ALPORT SYNDROME IN CHILDREN WITH MISSENSE COL4A5  VARIANTS

2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
Marina Aksenova ◽  
Tatjana Lepaeva ◽  
Tatjana Nikishina ◽  
Oxana Piruzeeva ◽  
Varvara Obuhova ◽  
...  
Keyword(s):  
Alport Syndrome ◽  
Clinical Symptoms ◽  
Age At Onset ◽  
Sensorineural Deafness ◽  
Missense Mutations ◽  
Mild Phenotype ◽  
Missense Variants ◽  
Pathogenic Variants ◽  
Significant Difference ◽  
The Mean

Abstract Background and Aims The phenotype-genotype relation is well established in patients (especially male) with X-linked Alport syndrome (XLAS). The aim of study was to define the spectrum of COL4A5 pathogenic variants and impact of missense mutation on disease progression. Method The NGS-based genetic testing of COL4A3, COL4A4, COL4A5 was performed in 186 children with suspected Alport syndrome. The comparison of clinical symptoms (frequency, age of presentation of macrohematuria, proteinuria, eGFR decrease, sensorineural deafness (SND), level of proteinuria (mg/m2/day) and eGFR (ml/min/1.73m2) at the last presentation) was carried out in male with XLAS due to different COL4A5 variants. Results The XLAS was diagnosed in 93 children (Ме 7,5[4;11], 51М) from 79 families. The following COL4A5 variants were revealed: missense (n=70, q=0.75), splice site (n=10 from 9 families, q=0.11), frame shift (n=6, q=0.06), nonsense (n=7, q=0.08). Missense variants were presented by COL4A5 c.1871G>A, p.(Gly624Asp) in 26% of cases (n=18). The mean age of ESRD was lower in male family member (35[24;35] years vs 48[40;55], p=0.023) with non COL4A5 p.(Gly624Asp). There was no difference in age on last presentation (13[9;14] vs 12[8;15], p=0.091) between pts with COL4A5 p.(Gly624Asp) and other missense variants. There was significant difference between the male with p.Gly624Asp and other missense variants in frequency of proteinuria (0.61 vs 0.25, p=0.043), SND (0.5 vs 0.08, p=0.03), age at onset (5[3;7] vs 14[8;16], p=0.02) and degree of proteinuria (441[78;1158] vs 66[22;160], p=0.023) and eGFR level (83[66;109] vs 96[91;104], p=0.048) at the last examination. Conclusion The XLAS is caused by missense variants in ¾ of cases in our cohort. We confirmed the other European studies results: the COL4A5 p.(Gly624Asp) is the most common variant of missense mutations characterized by mild phenotype of XLAS.

scholarly journals Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8

2018 ◽  
Vol 103 (3) ◽  
pp. 390-397 ◽  
Author(s):  
Kaoru Fujinami ◽  
Rupert W Strauss ◽  
John (Pei-Wen) Chiang ◽  
Isabelle S Audo ◽  
Paul S Bernstein ◽  
...  
Keyword(s):  
Allele Frequency ◽  
Stargardt Disease ◽  
Genetic Characteristics ◽  
Mild Phenotype ◽  
Missense Variants ◽  
Pathogenic Variants ◽  
Significant Difference ◽  
Novel Variants ◽  
The Usa ◽  
Subsequent Comparison

Background/aimsTo describe the genetic characteristics of the cohort enrolled in the international multicentre progression of Stargardt disease 1 (STGD1) studies (ProgStar) and to determine geographic differences based on the allele frequency.Methods345 participants with a clinical diagnosis of STGD1 and harbouring at least one disease-causing ABCA4 variant were enrolled from 9 centres in the USA and Europe. All variants were reviewed and in silico analysis was performed including allele frequency in public databases and pathogenicity predictions. Participants with multiple likely pathogenic variants were classified into four national subgroups (USA, UK, France, Germany), with subsequent comparison analysis of the allele frequency for each prevalent allele.Results211 likely pathogenic variants were identified in the total cohort, including missense (63%), splice site alteration (18%), stop (9%) and others. 50 variants were novel. Exclusively missense variants were detected in 139 (50%) of 279 patients with multiple pathogenic variants. The three most prevalent variants of these patients with multiple pathogenic variants were p.G1961E (15%), p.G863A (7%) and c.5461-10 T>C (5%). Subgroup analysis revealed a statistically significant difference between the four recruiting nations in the allele frequency of nine variants.ConclusionsThere is a large spectrum of ABCA4 sequence variants, including 50 novel variants, in a well-characterised cohort thereby further adding to the unique allelic heterogeneity in STGD1. Approximately half of the cohort harbours missense variants only, indicating a relatively mild phenotype of the ProgStar cohort. There are significant differences in allele frequencies between nations, although the three most prevalent variants are shared as frequent variants.

scholarly journals Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

2021 ◽  
Author(s):  
Paolo Zanoni ◽  
Katharina Steindl ◽  
Deepanwita Sengupta ◽  
Pascal Joset ◽  
Angela Bahr ◽  
...  
Keyword(s):  
Loss Of Function ◽  
Mild Phenotype ◽  
Psychological Issues ◽  
Missense Variants ◽  
Mild Developmental Delay ◽  
Pathogenic Variants ◽  
In Silico Modeling ◽  
And Function ◽  
Methylation Activity

Abstract Purpose Despite a few recent reports of patients harboring truncating variants in NSD2, a gene considered critical for the Wolf–Hirschhorn syndrome (WHS) phenotype, the clinical spectrum associated with NSD2 pathogenic variants remains poorly understood. Methods We collected a comprehensive series of 18 unpublished patients carrying heterozygous missense, elongating, or truncating NSD2 variants; compared their clinical data to the typical WHS phenotype after pooling them with ten previously described patients; and assessed the underlying molecular mechanism by structural modeling and measuring methylation activity in vitro. Results The core NSD2-associated phenotype includes mostly mild developmental delay, prenatal-onset growth retardation, low body mass index, and characteristic facial features distinct from WHS. Patients carrying missense variants were significantly taller and had more frequent behavioral/psychological issues compared with those harboring truncating variants. Structural in silico modeling suggested interference with NSD2’s folding and function for all missense variants in known structures. In vitro testing showed reduced methylation activity and failure to reconstitute H3K36me2 in NSD2 knockout cells for most missense variants. Conclusion NSD2 loss-of-function variants lead to a distinct, rather mild phenotype partially overlapping with WHS. To avoid confusion for patients, NSD2 deficiency may be named Rauch–Steindl syndrome after the delineators of this phenotype.

scholarly journals AB0669 PARTICULARITIES OF TUNISIAN FEMALE AXIAL SPONDYLOARTHRITIS

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1629.2-1629
Author(s):  
K. Ben Abdelghani ◽  
Y. Gzam ◽  
A. Fazaa ◽  
S. Miladi ◽  
K. Ouenniche ◽  
...  
Keyword(s):  
Ankylosing Spondylitis ◽  
Disease Activity ◽  
Axial Spondyloarthritis ◽  
Activity Index ◽  
Age At Onset ◽  
Disease Onset ◽  
Disease Activity Index ◽  
Reactive Protein ◽  
Significant Difference ◽  
The Mean

Background:Axial spondyloarthritis (ax-SpA) is a chronic rheumatic disease that mainly affects men. However, the female form of ax-SpA remains insufficiently studied.Objectives:The aim of this study was to determine the clinical characteristics, the disease activity and the functional impact of female ax-SpA in comparison with male ax-SpA.Methods:This is a retrospective study including patients diagnosed with ax-SpA fulfilling the criteria of the Assessment of SpondyloArthritis international Society (ASAS) 2009.Clinical parameters, erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), Bath ankylosing spondylitis disease activity index (BASDAI) and Bath ankylosing spondylitis functional index (BASFI) were compared between groups of female and male ax-SpA.Results:Two hundred ax-SpA patients were included with 31% of female (n=62) and a mean age of 43,3 ± 11,2 years.The mean age at onset of symptoms was 31,8 ± 8,9 years for women and 25,3 ± 9,1 years for men (p <0,0001). The mean age at diagnosis was 36,4 ± 9,6 years for women and 31,7 ± 10,4 years for men (p = 0,003). Ax-SpA with juvenile onset was noted in 1,7% of women and 12,1% of men (p = 0,02). Male ax-SpA were significantly more smokers (46.8% vs 5.4%; p <0.001). The mean duration of morning stiffness was 11,3 ± 9,2 minutes for women versus 21,6 ± 19,3 minutes for men (p = 0,005).The mean ESR was 42,4 ± 29,8 mm for women and 28,3 ± 23,4 mm for men (p = 0,001). Radiographic sacroiliitis was present in 69,3% of women versus 84,7% of men (p = 0,01). The use of anti-TNF alpha was less frequent in women (29% vs 48,5%; p = 0,01).Our study didn’t found a statistically significant difference in peripheral manifestations, extraarticular manifestations, CRP, BASDAI and BASFI between the two groups.Conclusion:Female ax-SpA seems to have a better prognosis than male with older age in disease onset, less inflammation, less radiographic sacroiliitis and less use of biological treatments.References:[1]Rusman T, et al. Curr Rheumatol Rep. 2018; 20(6).[2]Siar N, et al. Curr Rheumatol Rev. 2019;Disclosure of Interests:None declared

scholarly journals Correlation between Clinical Symptoms of Coeliac Disease, Serum IgA Anti TTG and Biopsy in Pediatric Population of Northern India

2020 ◽  
Vol 8 (1) ◽  
pp. 65-68
Author(s):  
Sumit Jeena ◽  
Jaswinder Kaur ◽  
Nishant Wadhwa
Keyword(s):  
Coeliac Disease ◽  
Clinical Symptoms ◽  
Tissue Transglutaminase ◽  
Pediatric Population ◽  
Clinical Manifestations ◽  
North India ◽  
P Value ◽  
Serum Iga ◽  
Significant Difference ◽  
The Mean

Background: Celiac disease is basically an immune-mediated enteropathic condition produced by permanent sensitivity to gluten in genetically susceptible subjects. There is paucity of data in north India regarding clinical symptoms of coeliac disease, Serum IgA Anti TTG and Biopsy in pediatric population. The present study was conducted with the aim to determine the correlation between clinical symptoms of coeliac disease, Serum IgA Anti TTG and Biopsy in pediatric population of northern India.Materials and Methods: The present study was conducted in prospective including 73 pediatric patients at Department of Pediatric Gastroenterology, Institute of Child Health, Sir Gangaram Hospital, New Delhi, India. Esophagogastroduodenoendoscopy and serum anti Ig A tissue transglutaminase were performed. The characteristic scalloping of the folds were looked for in endoscopy followed by four duodenal biopsies performed from second part of duodenum and histological grading was performed as per modified marsh system. Patients with Serum IgA anti tTG>20 U/ml were confirmed to be at risk. Complete histological work up was done including hemoglobin, RBC indices and peripheral blood smear examination. The association of clinical manifestations with disease grade was also established with correlation coefficient. All the data thus obtained was arranged in a tabulated form and analyzed using SPSS software. Probability value of less than 0.05 was regarded as significant.Results: There were 4 males and 16 females with marsh grade 1 and 2 and mean age of 7.3±1.9 years. There were 5 males and 8 females with marsh grade 3a and mean age of 6.8±2.3 years. The mean weight of 18.11±3.89, height of 103.17±8.73 and BMI of 16.26±3.78 was observed amongst subjects with Marsh grade 1 and 2. The mean weight of 15.12±3.17, height of 99.28±9.19 and BMI of 15.02±3.20was observed amongst subjects with Marsh grade 3a. Diarrhoea was maximum amongst subjects with grade 3c and 4(70%) and minimum amongst Grade 1 and 2 (40%). There was a significant difference between the frequency of anemia amongst different grades as the p value was less than 0.05.Conclusion: The most common presenting signs and symptoms were diarrhea and abdominal pain. The study also concluded that the incidence of anemia increases with higher marsh grades.

scholarly journals Botulinum Toxin Injection with Conjunctival Microincision for the Treatment of Acute Acquired Comitant Esotropia and Its Effectiveness

2020 ◽  
Vol 2020 ◽  
pp. 1-7
Author(s):  
Hongjia Xu ◽  
Weifeng Sun ◽  
Shuying Dai ◽  
Yanyan Cheng ◽  
Jing Zhao ◽  
...  
Keyword(s):  
Botulinum Toxin ◽  
Binocular Vision ◽  
Botulinum Toxin A ◽  
Botulinum Toxin Injection ◽  
Age At Onset ◽  
Brain Magnetic Resonance Imaging ◽  
Significant Difference ◽  
Angle Of Deviation ◽  
The Mean

Purpose. To report on an improved botulinum toxin injection with conjunctival microincision for beginners, and to determine the effectiveness of botulinum toxin A (BTXA) in the treatment of patients with acute acquired comitant esotropia (AACE). Methods. Medical records of 29 AACE patients were retrospectively analyzed. BTXA was injected into the unilateral or bilateral medial rectus muscle with conjunctival microincision without electromyographic guidance. Success was defined as total horizontal deviation ≤10 prism diopters (PD) and evidence of binocular vision. Results. Twenty-nine patients were included, of whom 22 were male and 7 were female. The mean age at onset was 14.2 ± 7.4 (range, 4–34) years. The mean time from onset of AACE to injection was 18.4 ± 20.3 (range, 1–96) weeks. All patients completed at least 6 months of follow-up, and the mean follow-up after BTXA injection was 12.3 ± 4.8 months (range, 7–24 months). Neurological evaluation and brain magnetic resonance imaging (MRI) were unremarkable in all patients. The mean spherical equivalent refraction was −1.22 ± 2.85D and −0.97 ± 2.80D in the right and left eyes, respectively. Mean preinjective esotropia was 38.4 ± 18.9 PD (range, +10–+80 PD) at near and 40.2 ± 17.7 PD (range, +20–+80 PD) at far distance. The mean angle of deviation at 6 months after injection was 0.6 ± 4.1 PD (range, −3–+15 PD) at near and 3.0 ± 5.9 PD (range, 0–+20 PD) at far distance. There was significant difference in the angle of deviation at near and far fixation between pre-BTXA and post-BTXA 6 months ( p < 0.001 , p < 0.001 , resp.). There was no significant difference in the angle of deviation at near and far fixation between post-BTXA 6 months and post-BTXA at final follow-up ( p  = 0.259 and 0.326, resp.). Mean stereoacuity improved from 338 to 88 arc seconds. During the follow-up period, 5 of 29 patients had recurrent esotropia. Two patients refused all further treatment, and the other 3 patients required incisional strabismus surgery. The success rates were 86.2% (25/29) at 6 months and 82.8% (24/29) at final follow-up. Conclusion. Conjunctival microincision injection of botulinum toxin is a practical and safe method for beginners to locate an extraocular muscle, which is as effective as the traditional methods. Botulinum toxin injection can be preferred as the first-line treatment for AACE patients with potential binocular vision.

scholarly journals Sinus Tarsi Volume Changes with Hindfoot Position on Weight-Bearing CT Scan

2017 ◽  
Vol 2 (3) ◽  
pp. 2473011417S0002
Author(s):  
Michael Hull ◽  
Tyler Rutherford ◽  
Clifford Jeng ◽  
John T. Campbell ◽  
Rebecca Cerrato
Keyword(s):  
Critical Angle ◽  
Clinical Symptoms ◽  
Weight Bearing ◽  
Lateral Process ◽  
Sinus Tarsi ◽  
Straight Line ◽  
Sinus Tarsi Syndrome ◽  
Significant Difference ◽  
The Mean ◽  
Varus Position

Category: Basic Sciences/Biologics, Hindfoot Introduction/Purpose: Sinus Tarsi syndrome is a frequent cause of anterolateral foot pain following injury. Chronic lateral subtalar pain, often referred to as “Sinus Tarsi Syndrome”, is commonly reported to occur following trauma. One hypothetical epidemiological predisposing factor for sinus tarsi syndrome is flatfoot deformity with valgus hind foot alignment. Common conservative treatment includes medial heel posting to attempt to widen the sinus tarsi space and alleviate synovitic pain. Although treatment with operative intervention has been reported, no data exists to evaluate if hindfoot realignment functionally opens the sinus tarsi volume. Methods: Weight-bearing Computed Tomography (CT) scans were obtained in 5 healthy volunteers standing at rest on slanted platforms, 25 degree valgus and 25 degree varus. The volume of the sinus tarsi was measured on each scan. Cross sectional area of the sinus tarsi was measured in 3.6 mm slices from the most lateral fully enclosed image to the most lateral aspect of the middle facet of the subtalar joint. Area measurements were multiplied by cut depth (3.6 mm) and summed. Critical angle distance was measured as a straight line from the most lateral point of the lateral process of the talus to the base of the critical angle of Gissane. Subfibular distance was then measured from the most distal tip of the fibula in a straight line to the nearest point of the lateral calcaneal wall. Data were compared using a one way ANOVA and Tukey’s multiple comparison test. Results: The mean sinus tarsi volume in the valgus position was 325.1 mm3 (±88) and 313.3 (±71) for the left and right foot, respectively. In the varus position, the mean sinus tarsi volume increased to 646.8 mm3 (±169) and 599 mm3 (±203). There was a significant difference between the varus and valgus position for both feet (left p<0.01 / right p<0.05). The critical angle distance increased from 28.1 mm (±7.5) to 91.3 mm (±26) for the left foot and 26.3 mm (±7.6) to 87 mm (±27.9) for the right foot when realigned to the varus position (p<0.0001). There was not a significant increase in the sub fibular distance when repositioned from valgus to varus (p=0.06 / p=0.35). Conclusion: This study confirms that moving from a valgus to a varus position significantly increases the volume of the sinus tarsi as well as significantly increases the distance from the lateral process of the talus to the calcaneal angle of Gissane. Interestingly, subfibular distance did not significantly increase, although this may reach significance with increased samples. With confirmation that adjusting hindfoot positioning impacts lateral osseous impingement, future studies are warranted to correlate these findings with clinical symptoms.

scholarly journals Genotype–phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome

2021 ◽  
Author(s):  
Yanqin Zhang ◽  
Jan Böckhaus ◽  
Fang Wang ◽  
Suxia Wang ◽  
Diana Rubel ◽  
...  
Keyword(s):  
Alport Syndrome ◽  
Autosomal Recessive ◽  
Kidney Diseases ◽  
Response To Therapy ◽  
Response To Treatment ◽  
Rapid Decline ◽  
Onset Age ◽  
Missense Variants ◽  
Pathogenic Variants ◽  
Small Patient

Abstract Background Autosomal recessive Alport syndrome (ARAS) is caused by pathogenic variants in both alleles of either COL4A3 or COL4A4 genes. Reports on ARAS are rare due to small patient numbers and there are no reports on renin-angiotensin-aldosterone system (RAAS) inhibition therapy in ARAS. Methods Retrospective study in 101 patients with ARAS from Chinese Registry Database of Hereditary Kidney Diseases and European Alport Registry. Genotype–phenotype correlations and nephroprotective effects of RAAS inhibition in ARAS were evaluated. Results Median age was 15 years (range 1.5–46 years). Twelve patients progressed to stage 5 chronic kidney disease (CKD5) at median age 20.5 years. Patients without missense variants had both higher prevalence and earlier onset age of hearing loss, nephrotic-range proteinuria, more rapid decline of eGFR, and earlier onset age of CKD5 compared to patients with 1 or 2 missense variants. Most patients (79/101, 78%) currently are treated with RAAS inhibitors; median age at therapy initiation was 10 years and mean duration 6.5 ± 6.0 years. Median age at CKD5 for untreated patients was 24 years. RAAS inhibition therapy delayed CKD5 onset in those with impaired kidney function (T-III) to median age 35 years, but is undefined in treated patients with proteinuria (T-II) due to low number of events. No treated patients with microalbuminuria (T-I) progressed to CKD5. ARAS patients with 1 or 2 missense variants showed better response to treatment than patients with non-missense-variants. Conclusions Our study provides the first evidence for early use of RAAS inhibition therapy in patients with ARAS. Furthermore, genotype in ARAS correlates with response to therapy in favor of missense variants.

INVESTIGATION OF 201 CASES OF CANINE KERATOCONJUNCTIVITIS SICCA IN TAIWAN

2014 ◽  
Vol 40 (02) ◽  
pp. 89-94
Author(s):  
Cheng-Chi Liu ◽  
Chen-Si Lin ◽  
Tien-Fu Chuang ◽  
Chung-Tien Lin
Keyword(s):  
Retrospective Study ◽  
Statistical Difference ◽  
Keratoconjunctivitis Sicca ◽  
Age At Onset ◽  
Clinical Signs ◽  
Corneal Ulceration ◽  
Data Analyses ◽  
Significant Difference ◽  
The Mean ◽  
Veterinary Hospital

This is a retrospective study of data analyses from 201 cases with keratoconjunctivitis sicca (KCS) referred to the National Taiwan University Veterinary Hospital, Taiwan. There were 23 breeds in the study, with three most affected breeds, namely Shih-Tzu, Maltese and American cocker spaniel, making up 59.2% of the cases. Among all cases, the mean age at onset of clinical signs was eight years and one month, with no statistical difference between females and males. Clinical signs consisted mainly of corneal pigmentation, mucopurulent discharge and corneal ulceration. In contrast, Shih-Tzu and Malteses showed higher incidence of corneal ulceration. Severe corneal pigmentation occurred in Shih-Tzu. There was no significant difference in mucopurulent discharge in all breeds. The results of this study revealed interbreed differences with respect to sex, age and risks of corneal pigmentation, and corneal ulceration that have not been detailed previously in a referral population in Taiwan.

scholarly journals The Effects of Succimer and Penicillamine on Acute Lead Poisoning Patients

2021 ◽  
Vol 11 (3) ◽  
pp. 33474-33474
Author(s):  
Gholamali Dorooshi ◽  
◽  
Negar Molavi ◽  
Rokhsareh Meamar ◽  
Akbar Hasanzadeh ◽  
...  
Keyword(s):  
Lead Poisoning ◽  
Clinical Symptoms ◽  
Blood Lead ◽  
Study Groups ◽  
Easy Access ◽  
Laboratory Findings ◽  
Treatment Groups ◽  
Significant Difference ◽  
Lead Levels ◽  
The Mean

Background: Lead poisoning was on the rise in recent years. There exists a lack of easy access to some of the main chelator drugs in developing countries. Thus, this study aimed to explore the comparative effects of Succimer and D-Penicillamine on acute lead poisoning patients from 2013 to 2018. Methods: This descriptive study was conducted in the Clinical Toxicology Department of Khorshid Hospital in Isfahan City, Iran. Adult patients with acute lead poisoning were included in the study. Patients in the 3 treatment groups of D-Penicillamine, D-Penicillamine with succimer, and succimer were compared concerning demographic characteristics as well as clinical and laboratory findings at admission time and two weeks later. Results: In total, 163 patients were evaluated in this research. There was no significant difference between the treatment groups respecting improvement in clinical symptoms. The mean blood lead levels during hospitalization and two weeks after the treatment did not significantly differ between the three groups; however, there was a significant reduction in all study groups after two weeks of treatment (P<0.05). The mean white blood cell count was significantly lower only in the D-Penicillamine group two weeks after hospitalization (P<0.05). In the D-Penicillamine group, the mean platelet, hematocrit, and hemoglobin levels were significantly lower two weeks after hospitalization, although within the healthy range. Conclusion: D-Penicillamine may be an acceptable chelator drug for treating patients with acute lead poisoning, especially in communities without access to drugs, like succimer.

Clinico-radiological Profile in Children with Drug Resistant Focal Epilepsy

QJM ◽  
2021 ◽  
Vol 114 (Supplement_1) ◽  
Author(s):  
Neveen Tawakol Younis ◽  
Shaymaa Abdel Sattar Mohammed ◽  
Raghda Mohamed Hesham Zaitoun ◽  
Mohammed Atia Abdel Hafez Shokdef
Keyword(s):  
Focal Epilepsy ◽  
Age At Onset ◽  
Drug Resistant ◽  
Seizure Severity ◽  
Conventional Mri ◽  
Severity Scores ◽  
Significant Difference ◽  
Neurology Clinic ◽  
The Mean ◽  
Mri Study

Abstract Objective To assess the clinical and neuroimaging findings of pediatric patients with drug-resistant focal epilepsy, comparing conventional MR technique to the "essential 6” protocol. Methods An observational study of 18 children with drug resistant focal seizures identified both clinically and/or by EEG findings. Available clinical data as well as EEG and MRI data in patients’ files at the pediatric neurology clinic at Ain Shams University was retrospectively evaluated and documented. All patients then underwent a new MRI study using a novel MR technique - the essential six sequence protocol to determine whether the latter technique was superior to standard at picking subtle anatomical abnormalities in children with drug resistant focal epilepsy. Results 18 children (10 males and 8 females) with a mean age of 8.49 ±3.20 years were enrolled. The mean age at onset of epilepsy was 3.24 ±2.79 years. 15 out of 18 patients (83%) had an abnormal EEG. The mean Chalfont Seizure Severity Scale Score was 63.71 ±34.35. There was no statistically significant difference in Chalfont seizure severity scores between patients with normal vs abnormal EEG, and with normal vs abnormal MRI. The novel MRI technique could pick on an abnormality in 12 out of the 18 cases (66%), which is six times more than what could be identified using the baseline/conventional MRI technique. Conclusions The essential 6 MRI protocol is superior to conventional MRI protocols at picking structural abnormalities in patients with drug resistant focal epilepsy.

Sign in / Sign up

Export Citation Format

Share Document