Biotin–Thiamine Responsive Basal Ganglia Disease Presented as Intractable Seizure in a 1-Month-Old Infant

2020 ◽  
Author(s):  
Jaya Verlani ◽  
Sheetal Agarwal ◽  
Dhirendra P. Singh ◽  
Devki Nandan ◽  
Ruby Singh
Keyword(s):  
Basal Ganglia ◽  
Inborn Error ◽  
Positive Family History ◽  
Resonance Imaging ◽  
Mri Findings ◽  
Neurological Sequelae ◽  
Whole Exome ◽  
Basal Ganglia Disease ◽  
Magnetic Resonance Imaging Mri ◽  
High Doses

AbstractBiotin–thiamine responsive basal ganglia disease is a neurometabolic disorder, seen in children presenting with encephalopathy, seizures, and positive family history. The disease is diagnosed based on typical magnetic resonance imaging (MRI) findings and whole exome sequencing but may be initially misdiagnosed as a mitochondrial encephalopathy or an inborn error of metabolism (IEM). We describe the case of an infant who presented with uncontrolled seizures and encephalopathy, responding to high doses of thiamine and biotin. Life-long supplementation of biotin (2–10 mg/kg/day) and thiamine (200–300 mg/day) improves the symptomatology and prevents relapse. Outcomes of the disease are heterogeneous, ranging in scope from complete remission to severe neurological sequelae.

Computed Tomography and Magnetic Resonance Imaging-aided Diagnosis of Primary Essential Cutis Verticis Gyrata: A Case Report with 5-year Follow-up and Review of the Literature

2019 ◽  
Vol 15 (9) ◽  
pp. 906-910
Author(s):  
Hongzhang Zhu ◽  
Shi-Ting Feng ◽  
Xingqi Zhang ◽  
Zunfu Ke ◽  
Ruixi Zeng ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Three Dimensional ◽  
Stable Condition ◽  
Resonance Imaging ◽  
Mri Findings ◽  
Cutis Verticis Gyrata ◽  
Essential Form ◽  
History Of ◽  
Magnetic Resonance Imaging Mri

Background: Cutis Verticis Gyrata (CVG) is a rare skin disease caused by overgrowth of the scalp, presenting as cerebriform folds and wrinkles. CVG can be classified into two forms: primary (essential and non-essential) and secondary. The primary non-essential form is often associated with neurological and ophthalmological abnormalities, while the primary essential form occurs without associated comorbidities. Discussion: We report on a rare case of primary essential CVG with a 4-year history of normal-colored scalp skin mass in the parietal-occipital region without symptom in a 34-year-old male patient, retrospectively summarizing his pathological and Computer Tomography (CT) and magnetic resonance imaging (MRI) findings. The major clinical observations on the CT and MR sectional images include a thickened dermis and excessive growth of the scalp, forming the characteristic scalp folds. With the help of CT and MRI Three-dimensional (3D) reconstruction techniques, the characteristic skin changes could be displayed intuitively, providing more evidence for a diagnosis of CVG. At the 5-year followup, there were no obvious changes in the lesion. Conclusion: Based on our observations, we propose that not all patients with primary essential CVG need surgical intervention, and continuous clinical observation should be an appropriate therapy for those in stable condition.

scholarly journals Balo’s Concentric Sclerosis Mimicking Tumor on Magnetic Resonance Imaging in a Young Patient

2021 ◽  
Vol 14 ◽  
pp. 117954762198967
Author(s):  
Van Trung Hoang ◽  
Cong Thao Trinh ◽  
Hoang Anh Thi Van ◽  
Thanh Tam Thi Nguyen ◽  
Vichit Chansomphou ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Demyelinating Disease ◽  
Management Strategies ◽  
Resonance Imaging ◽  
Mri Findings ◽  
Demyelinating Lesions ◽  
Baló’S Concentric Sclerosis ◽  
Magnetic Resonance Imaging Mri ◽  
Subcortical Regions

Balo’s concentric sclerosis (BCS) is a rare demyelinating disease known as Multiple Sclerosis (MS) lesion type III. It is a disease of the white matter of the brain characterized by a round lesion with variable concentric myelinated and demyelinated layers, appearing as “onion bulb.” We present a case of BCS and discuss the imaging findings and management strategies of this disease. A 26-y-old male developed headache, weakness, and numbness of limbs. Magnetic resonance imaging (MRI) showed concentric lamellar like demyelinating lesions at the subcortical regions. The patient’s neurological symptoms were consistent with the MRI findings.

scholarly journals Relationship between abnormalities detected by magnetic resonance imaging and knee symptoms in early knee osteoarthritis

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Seiya Ota ◽  
Eiji Sasaki ◽  
Shizuka Sasaki ◽  
Daisuke Chiba ◽  
Yuka Kimura ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Knee Osteoarthritis ◽  
Cartilage Damage ◽  
Resonance Imaging ◽  
Mri Findings ◽  
Radiographic Evidence ◽  
Cross Sectional ◽  
Meniscal Lesions ◽  
Magnetic Resonance Imaging Mri

AbstractWe investigated the prevalence of magnetic resonance imaging (MRI) findings and their relationship with knee symptoms in women without radiographic evidence of knee osteoarthritis (KOA). This cross-sectional cohort study included 359 Japanese women without radiographic evidence of KOA (Kellgren‒Lawrence grade < 2). All participants underwent T2-weighted fat-suppressed MRI of their knees. Structural abnormalities (cartilage damage, bone marrow lesions [BMLs], subchondral cysts, bone attrition, osteophytes, meniscal lesions, and synovitis) were scored according to the whole-organ MRI score method. Knee symptoms were evaluated using the Knee Injury and Osteoarthritis Outcome Score. Participants were divided into early and non-KOA groups based on early KOA classification criteria. Logistic regression analysis was performed to evaluate the relationship between MRI abnormalities and knee symptoms. Cartilage damage was the most common abnormality (43.5%). The prevalences of cartilage damage, BMLs, subchondral cysts, bone attrition, meniscal lesions, and synovitis were higher in patients with early KOA than in those without. Synovitis (odds ratio [OR] 2.254, P = 0.002) and meniscal lesions (OR 1.479, P = 0.031) were positively associated with the presence of early KOA. Synovitis was most strongly associated with knee pain and might be a therapeutic target in patients with early KOA.

scholarly journals Canine Choroid Plexus Tumor with Intracranial Dissemination Presenting as Multiple Cystic Lesions

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Trisha J. Oura ◽  
Peter J. Early ◽  
Samuel H. Jennings ◽  
Melissa J. Lewis ◽  
Jeremy R. Tobias ◽  
...  
Keyword(s):  
Choroid Plexus ◽  
Brain Lesions ◽  
Behavioral Changes ◽  
Cystic Lesions ◽  
Resonance Imaging ◽  
Mri Findings ◽  
Choroid Plexus Tumor ◽  
Magnetic Resonance Imaging Mri ◽  
Mri Characteristics ◽  
Possible Cause

A Miniature Pinscher developed acute blindness and behavioral changes. On magnetic resonance imaging (MRI), there were multiple small intra-axial cystic lesions, and primary differential diagnoses included primary or metastatic neoplasia and neurocysticercosis. These cystic lesions were subsequently diagnosed histopathologically as disseminated choroid plexus carcinoma. This is only the second documented description of this diagnosis in a dog, but both patients had very similar MRI findings. This patient adds to the literature about the MRI characteristics of choroid plexus tumors and indicates that choroid plexus tumor should be considered as a possible cause of small multifocal intra-axial cystic brain lesions in dogs, regardless of whether a primary intraventricular lesion is visible.

Transperineal Ultrasonographic and Magnetic Resonance Imaging Findings of Vaginal Adenosis

2021 ◽  
Vol 17 ◽  
Author(s):  
Sebnem Karasu ◽  
Atilla Hikmet Cilengir ◽  
Irfan Ocal ◽  
Serpil Aydogmus
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Chronic Pelvic Pain ◽  
English Literature ◽  
Vaginal Wall ◽  
Imaging Findings ◽  
Resonance Imaging ◽  
Mri Findings ◽  
Proven Case ◽  
Magnetic Resonance Imaging Mri

Background: Vaginal adenosis is a rare clinicopathological entity which refers to the presence of glandular endometrial tissue in the vaginal wall. Case report: A gravida 46-year-old woman was presented to the gynecology department with symptoms of chronic pelvic pain. Maternal Diethylstilbestrol (DES) usage has been proven effective in the development of vaginal adenosis. It can also be idiopathic. Its sonographic or magnetic resonance imaging (MRI) findings have not been described in English literature previously. Conclusion: Here, we report the clinical, transperineal ultrasonographic (US) and MRI findings of a pathologically proven case of vaginal adenosis.

scholarly journals Magnetic resonance imaging and pathological features of a mixed glioma in a dog: case report

2018 ◽  
Vol 70 (5) ◽  
pp. 1383-1387 ◽  
Author(s):  
T.M. Granato ◽  
L.P. Mesquita ◽  
R.C. Costa ◽  
J.P. Andrade Neto ◽  
P.C. Maiorka
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Pathological Features ◽  
Resonance Imaging ◽  
Mri Findings ◽  
Neoplastic Cells ◽  
Temporal Lobes ◽  
Mixed Glioma ◽  
Perilesional Edema ◽  
Magnetic Resonance Imaging Mri

ABSTRACT The aim of this report was to describe the magnetic resonance imaging (MRI) and pathological features of a canine mixed glioma. A 12-year-old boxer male dog was presented for necropsy along with data from an MRI evaluation conducted ante-mortem. The images were examined and showed a poorly demarcated prosencephalic lesion, hyperintense on T2W images, hypointense on T1W images and heterogeneously hyperintense on T2W FLAIR images. There was mild nonuniform contrast enhancement, apparent midline shift, moderate perilesional edema and marked distortion of the adjacent lateral ventricle. The brain was evaluated macroscopically, microscopically and immunohistochemically. Grossly, there was a poorly demarcated soft mass, with areas of hemorrhage, within the left parietal and temporal lobes. Histologically, there was a densely cellular mass composed of two geographically distinct populations of neoplastic cells. The first population was composed of small and round cells organized in a honeycomb pattern. The second population constituted of intermingled streams and bundles of neoplastic cells that were strongly immunolabeled for glial fibrillary acidic protein (GFAP). The diagnosis of a mixed glioma was based on MRI findings, and mainly on histological and immunohistochemical findings.

scholarly journals Diffusion-weighted magnetic resonance imaging in cystic renal masses

2017 ◽  
Vol 11 (1-2) ◽  
pp. 8 ◽  
Author(s):  
Fikret Balyemez ◽  
Ahmet Aslan ◽  
Ibrahim Inan ◽  
Ercan Ayaz ◽  
Vildan Karagöz ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Renal Cysts ◽  
Diagnostic Value ◽  
Resonance Imaging ◽  
Mri Findings ◽  
Renal Masses ◽  
Adc Value ◽  
Diffusion Weighted ◽  
Magnetic Resonance Imaging Mri

Introduction: We aimed to introduce the diagnostic value of diffusion-weighted (DWI) magnetic resonance imaging (MRI) for distinguishing benign and malignant renal cystic masses.Methods: Abdominal DWI-MRIs of patients with Bosniak categories 2F, 3, and 4 cystic renal masses were evaluated retrospectively. Cystic masses were assigned as benign or malignant according to histopathological or followup MRI findings and compared with apparent diffusion coefficient (ADC) values.Results: There were 30 patients (18 males and 12 females, mean age was 59.23 ± 12.08 years [range 38‒83 years]) with cystic renal masses (eight Bosniak category 2F, 12 Bosniak category 3, 10 Bosniak category 4). Among them, 14 cysts were diagnosed as benign and 16 as malignant by followup imaging or histopathological findings. For the malignant lesions, the mean ADC values were lower than for benign lesions (p=0.001). An ADC value of ≤2.28 x10-6 mm2/s or less had a sensitivity of 75% and a specificity of 92.86% for detecting malignancy.Conclusions: ADC can improve the diagnostic performance of MRI in the evaluation of complex renal cysts when used together with conventional MRI sequences.

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 Negative MRI findings in a case of degenerative myelopathy in a dog : clinical communication

2009 ◽  
Vol 80 (4) ◽  
Author(s):  
M. Okada ◽  
M. Kitagawa ◽  
K. Kanayama ◽  
H. Yamamura ◽  
T. Sakai
Keyword(s):  
Magnetic Resonance Imaging ◽  
Histopathological Examination ◽  
Clinical Signs ◽  
Resonance Imaging ◽  
Mri Findings ◽  
Clinical Communication ◽  
Bladder Control ◽  
Blood Tests ◽  
Degenerative Myelopathy ◽  
Magnetic Resonance Imaging Mri

An 11-year-old male Rough collie was submitted with paraparesis, but did not respond to medical treatment. Clinical signs worsened and the dog displayed paralysis, inability to stand and loss of voluntary bladder control, whereupon magnetic resonance imaging (MRI) was performed. No significant abnormalities were identified from MRI, blood tests, cerebrospinal fluid tests or radiography. After MRI, the dog developed dyspnoea and died. Autopsy and subsequent histopathological examination led to a diagnosis of degenerative myelopathy.

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