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.

Brain magnetic resonance imaging does not contribute to the diagnosis of chronic neuroborreliosis

2007 ◽  
Vol 48 (7) ◽  
pp. 755-762 ◽  
Author(s):  
A. Aalto ◽  
J. Sjöwall ◽  
L. Davidsson ◽  
P. Forsberg ◽  
Ö. Smedby
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Disease Duration ◽  
Brain Magnetic Resonance Imaging ◽  
White Matter Lesions ◽  
Resonance Imaging ◽  
Mri Findings ◽  
Significant Difference ◽  
Fluid Attenuated Inversion Recovery ◽  
Magnetic Resonance Imaging Mri

Background: Borrelia infections, especially chronic neuroborreliosis (NB), may cause considerable diagnostic problems. This diagnosis is based on symptoms and findings in the cerebrospinal fluid but is not always conclusive. Purpose: To evaluate brain magnetic resonance imaging (MRI) in chronic NB, to compare the findings with healthy controls, and to correlate MRI findings with disease duration. Material and Methods: Sixteen well-characterized patients with chronic NB and 16 matched controls were examined in a 1.5T scanner with a standard head coil. T1- (with and without gadolinium), T2-, and diffusion-weighted imaging plus fluid-attenuated inversion recovery (FLAIR) imaging were used. Results: White matter lesions and lesions in the basal ganglia were seen in 12 patients and 10 controls (no significant difference). Subependymal lesions were detected in patients down to the age of 25 and in the controls down to the age of 43. The number of lesions was correlated to age both in patients (ρ = 0.83, P<0.01) and in controls (ρ = 0.61, P<0.05), but not to the duration of disease. Most lesions were detected with FLAIR, but many also with T2-weighted imaging. Conclusion: A number of MRI findings were detected in patients with chronic NB, although the findings were unspecific when compared with matched controls and did not correlate with disease duration. However, subependymal lesions may constitute a potential finding in chronic NB.

scholarly journals Evaluation of Brain Magnetic Resonance Imaging (MRI) Findings of Neonates with Clinical Seizure Admitted to Yazd Shahid Sadoughi Hospital and its Effect on Diagnostic and Therapeutic Interventions of Newborns from 2015-2016

2020 ◽  
Author(s):  
Razieh Fallah ◽  
Mohammad Javad Asadi ◽  
Reza Nafisi Moghadam ◽  
Mohammad Hossein Ahrar Yazdi
Keyword(s):  
Magnetic Resonance Imaging ◽  
Brain Mri ◽  
Brain Magnetic Resonance Imaging ◽  
Common Type ◽  
Therapeutic Interventions ◽  
Resonance Imaging ◽  
Mri Findings ◽  
Clinical Seizure ◽  
Magnetic Resonance Imaging Mri ◽  
Abnormal Brain

Introduction: In neonatal period, brain magnetic resonance imaging (MRI) is the best neuroimaging to find etiology of seizure. The aim of this study was to evaluate brain MRI findings of neonates with clinical seizure and its effect on diagnostic and therapeutic interventions of newborn. Methods: In a retrospective study, medical records and brain MRI findings of neonates with clinical seizure admitted to Neonatal Intensive Care Unit or Pediatric Ward of Shahid Sadoughi Hospital, Yazd, Iran from September 2018 and before were evaluated. The data were analyzed using SPSS version 16 software , the required indicators and tables were prepared and Fisher exact test and Chi-square test were used to determine the relationship between qualitative variables and independent t-test was used to compare the means in the two groups Results: Twenty-five girls and 38 boys were studied. The cause of seizures was found in 94% and the most common cause of congenital hypoxia was in 22 infants (35%). The most common type of seizure was tonic in 23 infants (36.5%) and the most common type of generalized seizure was in 47 infants (75%). Brain MRI was abnormal in 19 neonates (30%). Based on the MRI results, there was a change in therapeutic interventions (brain surgery) in four infants (6.3%) and in diagnostic interventions (metabolic tests) in 19 infants (30%). Abnormal brain MRI was more frequent in neonates by cesarean section (46%)  than  normal vaginal delivery (19%), (p= 0.01) and also neonates with partial seizure (37.5%) had an abnormal MRI than  generalized seizure (21%), (p= 0.03). Mean of hospitalization days was longer in neonates with abnormal brain MRI (12.32±2.76 days) than neonates with normal MRI (8.57±2.82 days) (P = 0.02). Conclusion: Based on the results of this study, brain MRI might be useful in finding intracranial pathology that causes seizure in neonates by cesarean section to detect birth asphyxia and in newborns with partial seizure.  

Brain Magnetic Resonance Imaging (MRI) White Matter Hyperintensities in Cyclic Vomiting Syndrome With or Without Migraine

2021 ◽  
pp. 088307382110279
Author(s):  
Salman Rashid ◽  
Samantha Weaver ◽  
Khaled Al-Robaidi ◽  
Leon Dure ◽  
Sumit Singh
Keyword(s):  
Magnetic Resonance Imaging ◽  
White Matter ◽  
Magnetic Resonance ◽  
White Matter Hyperintensities ◽  
Brain Magnetic Resonance Imaging ◽  
Cyclic Vomiting Syndrome ◽  
Resonance Imaging ◽  
Mri Findings ◽  
Magnetic Resonance Imaging Mri ◽  
Cyclic Vomiting

Background: Cyclic vomiting syndrome is classified as a possible subset of migraine. Brain magnetic resonance imaging (MRI) findings of white matter hyperintensities are well documented in migraineurs, but not in patients with cyclic vomiting syndrome. This study focuses on white matter hyperintensities in children with cyclic vomiting syndrome. Methods: We investigated our database of outpatient medical records for the diagnosis codes associated with cyclic vomiting syndrome from January 2008 to October 2018. Results: Brain MRIs were obtained in 31 of 185 patients (∼17%) with a diagnosis code related to cyclic vomiting syndrome. We excluded 13 of 31 patients because of the inaccessibility of images or a confounding diagnosis. Remaining patients were divided into 2 groups: 13 of 18 cyclic vomiting syndrome with migraine (CVS+M), and 5 of 18 cyclic vomiting syndrome without migraine (CVS-M). We found that 3 of the 13 patients in the CVS +M group had migraine-like white matter hyperintensities compared to 0 of the 5 in the CVS-M group. Conclusion: This small study suggests a possible relationship between white matter hyperintensities and CVS+M. A larger study is required to validate these findings.

Psychosis as presenting symptom in adult-onset Hallervorden-Spatz syndrome

2007 ◽  
Vol 19 (2) ◽  
pp. 122-124 ◽  
Author(s):  
Marios Panas ◽  
Konstantinos Spengos ◽  
Georgios Koutsis ◽  
Georgios Tsivgoulis ◽  
Konstantinos Sfagos ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Brain Magnetic Resonance Imaging ◽  
Adult Onset ◽  
Resonance Imaging ◽  
Mri Findings ◽  
Psychiatric Symptomatology ◽  
Extrapyramidal Signs ◽  
Wheel Chair ◽  
Magnetic Resonance Imaging Mri ◽  
The Brain

Background:Hallervorden-Spatz syndrome is characterized by pyramidal and extrapyramidal signs, and dysarthria and dementia. Psychiatric symptomatology can emerge in the course of the disorder. Mutations in the pantothenate kinase 2 gene have been found in many cases. We report a case with psychosis as sole presenting symptom.Case:A 41-year-old man presented with change in behavior and paranoid delusional ideation. Six months later, spasticity, extrapyramidal rigidity and dysarthria were added to the picture. Eventually, the patient became mute and wheel-chair bound. The brain magnetic resonance imaging (MRI) was consistent with iron depositions in the globus pallidus and substantia nigra.Conclusions:In this case, the combination of clinical and MRI findings was consistent with Hallervorden-Spatz syndrome. The combination of psychiatric and MRI findings should lead to further neurological investigation.

SUNCT/SUNA and neurovascular compression: New cases and critical literature review

Cephalalgia ◽  
2013 ◽  
Vol 33 (16) ◽  
pp. 1337-1348 ◽  
Author(s):  
Valentina Favoni ◽  
Daniela Grimaldi ◽  
Giulia Pierangeli ◽  
Pietro Cortelli ◽  
Sabina Cevoli
Keyword(s):  
Brain Mri ◽  
Brain Magnetic Resonance Imaging ◽  
Primary Headache ◽  
Neurovascular Compression ◽  
Resonance Imaging ◽  
Mri Findings ◽  
Cranial Autonomic Symptoms ◽  
Magnetic Resonance Imaging Mri ◽  
Critical Literature

Background Short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing (SUNCT) and short-lasting unilateral neuralgiform headache with cranial autonomic symptoms (SUNA) are primary headache syndromes. A growing body of literature has focused on brain magnetic resonance imaging (MRI) evidence of neurovascular compression in these syndromes. Objective The objective of this article is to assess whether SUNCT is a subset of SUNA or whether the two are separate syndromes and clarify the role of neurovascular compression. Method We describe three new SUNCT cases with MRI findings of neurovascular compression and critically review published SUNCT/SUNA cases. Results We identified 222 published SUNCT/SUNA cases. Our three patients with neurovascular compression added to the 34 cases previously described (16.9%). SUNCT and SUNA share the same clinical features and therapeutic options. At present, there is no available abortive treatment for attacks. Lamotrigine was effective in 64% of patients; topiramate and gabapentin in about one-third of cases. Of the 34 cases with neurovascular compression, seven responded to drug therapies, 16 patients underwent microvascular decompression of the trigeminal nerve (MVD) with effectiveness in 75%. Conclusions We suggest that SUNCT and SUNA should be considered clinical phenotypes of the same syndrome. Brain MRI should always be performed with a dedicated view to exclude neurovascular compression. The high percentage of remission after MVD supports the pathogenetic role of neurovascular compression.

scholarly journals Novel In-Frame Deletion in HTRA1 Gene, Responsible for Stroke at a Young Age and Dementia—A Case Study

Genes ◽  
2021 ◽  
Vol 12 (12) ◽  
pp. 1955
Author(s):  
Julija Grigaitė ◽  
Kamilė Šiaurytė ◽  
Eglė Audronytė ◽  
Eglė Preikšaitienė ◽  
Birutė Burnytė ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Clinical Symptoms ◽  
Brain Magnetic Resonance Imaging ◽  
In Silico Analysis ◽  
Magnetic Resonance Imaging Mri ◽  
Biallelic Mutations ◽  
Population Databases ◽  
Autosomal Recessive Manner ◽  
Cerebral Small Vessel Diseases

Biallelic mutations in the high-temperature requirement A serine peptidase 1 (HTRA1) gene are known to cause an extremely rare cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), which belongs to the group of hereditary cerebral small vessel diseases and is mainly observed in the Japanese population. Even though this pathology is inherited in an autosomal recessive manner, recent studies have described symptomatic carriers with heterozygous HTRA1 mutations who have milder symptoms than patients with biallelic HTRA1 mutations. We present the case of a Lithuanian male patient who had a stroke at the age of 36, experienced several transient ischemic attacks, and developed an early onset, progressing dementia. These clinical symptoms were associated with extensive leukoencephalopathy, lacunar infarcts, and microbleeds based on brain magnetic resonance imaging (MRI). A novel heterozygous in-frame HTRA1 gene deletion (NM_002775.5:c.533_535del; NP_002766.1:p.(Lys178del)) was identified by next generation sequencing. The variant was consistent with the patient’s phenotype, which could not be explained by alternative causes, appeared highly deleterious after in silico analysis, and was not reported in the medical literature or population databases to date.

Identifying Clinical Clues in Children With Global Developmental Delay / Intellectual Disability With Abnormal Brain Magnetic Resonance Imaging (MRI)

2020 ◽  
pp. 088307382097733
Author(s):  
Abdullah Alamri ◽  
Yaser I. Aljadhai ◽  
Abdullah Alrashed ◽  
Bandar Alfheed ◽  
Roba Abdelmoaty ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Intellectual Disability ◽  
Magnetic Resonance ◽  
Developmental Delay ◽  
Brain Mri ◽  
Brain Magnetic Resonance Imaging ◽  
Global Developmental Delay ◽  
Resonance Imaging ◽  
Mri Findings ◽  
Magnetic Resonance Imaging Mri

Global developmental delay / intellectual disability are common pediatric conditions. Brain magnetic resonance imaging (MRI), although an important diagnostic tool in the evaluation of these patients, often requires general anesthesia. Recent literature suggests that unnecessary general anesthesia exposure should be avoided in early years because of possible long-term negative neurodevelopmental sequelae. This study sought to identify clinical clues associated with brain MRI abnormalities in children with global developmental delay / intellectual disability in an attempt to provide guidance to physicians on selecting patients who would benefit from an MRI. Retrospective chart review analysis was conducted for patients presenting to a pediatric neurology tertiary care center between 2014 and 2017 for a first clinic evaluation for global developmental delay / intellectual disability. Detailed clinical history and physical examination findings were analyzed and correlated with brain MRI findings. The majority (218/327, 67%) of children referred for evaluation of global developmental delay / intellectual disability underwent complete clinical and radiologic evaluations. Mean age was 37.9 months (±32.5 standard deviation) and 116 were males (53%). Motor deficits were predominant in most subjects (122/218, 56%). Abnormal MRI findings were observed in 153 children (70%), with the most prevalent abnormalities noted within the white matter (104/153, 68%), corpus callosum (77/153, 50%), and the hippocampus (50/153, 33%). Abnormal MRI findings were prevalent in children with predominant motor delay (84, 69%) and cognitive disability (3, 100%) as well as those with visual and hearing impairment ( P < .05). The presence of facial dysmorphisms (57/71, P = .02); cranial nerve abnormalities (79/100; P = .007) and abnormal reflexes (16, P = .01) on examination also correlated significantly with increased MRI abnormalities.

scholarly journals Findings of Brain Magnetic Resonance Imaging in Girls with Central Precocious Puberty Compared with Girls with Chronic or Recurrent Headache

2021 ◽  
Vol 10 (10) ◽  
pp. 2206
Author(s):  
Shin-Hee Kim ◽  
Moon Bae Ahn ◽  
Won Kyoung Cho ◽  
Kyoung Soon Cho ◽  
Min Ho Jung ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Precocious Puberty ◽  
Brain Mri ◽  
Brain Magnetic Resonance Imaging ◽  
Central Precocious Puberty ◽  
Resonance Imaging ◽  
Mri Findings ◽  
Magnetic Resonance Imaging Mri ◽  
Few Data

In the present study, the results of brain magnetic resonance imaging (MRI) in girls with central precocious puberty (CPP) were compared those in with girls evaluated for headaches. A total of 295 girls with CPP who underwent sellar MRI were enrolled. A total of 205 age-matched girls with chronic or recurrent headaches without neurological abnormality who had brain MRI were included as controls. The positive MRI findings were categorized as incidental non-hypothalamic–pituitary (H–P), incidental H–P, or pathological. Positive MRI findings were observed in 39 girls (13.2%) with CPP; 8 (2.7%) were classified as incidental non-H–P lesions, 30 (10.2%) as incidental H–P lesions, and 1 (0.3%) as a pathological lesion (tuber cinereum hamartoma). The prevalence of positive MRI findings in girls with CPP did not differ from girls with headaches (13.2% vs. 12.2%, p = 0.74). The prevalence of incidental H–P lesions in girls with CPP <6 years of age, 6–6.9 years of age, and 7–7.9 years of age was 21.2%, 13.5%, and 9.6%, respectively (p = 0.21). Known pathological lesions were detected in only one (3.0%) girl with CPP aged <6 years and in no girls with CPP aged 6–7.9 years. Microadenomas were detected in no girls with CPP aged <6 years and in 5 (1.9%) girls with CPP aged of 6–7.9 years. Our findings call into question the routine use of brain MRI in girls with CPP, especially in girls 6 years or older. Current guidelines recommend a follow-up MRI in cases of microadenoma, but few data exist to support this recommendation for children.

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