scholarly journals POLR3-related Leukodystrophy

2019 ◽  
Vol 9 ◽  
pp. 45
Author(s):  
Aby Thomas ◽  
Anna Kalathil Thomas
Keyword(s):  
Magnetic Resonance Imaging ◽  
Case Report ◽  
Magnetic Resonance ◽  
Clinical Presentation ◽  
Brain Magnetic Resonance Imaging ◽  
Imaging Features ◽  
Imaging Findings ◽  
Resonance Imaging ◽  
Pathogenic Mutations ◽  
Pol Iii

Pol III-related leukodystrophy is a recently recognized category of leukodystrophy with characteristic clinical presentation and imaging findings. These cases are diagnosed by the combination of typical clinical presentation, brain magnetic resonance imaging findings, and the presence of biallelic pathogenic mutations in three specific genes. We present the case of a 6-year-old girl who demonstrated the classic clinical and imaging features of this disorder. This case report aims to raise awareness of this disorder so that it is easily recognized in the appropriate setting.

Prognostic Parameters of Acute Transverse Myelitis in Children

2020 ◽  
Vol 35 (14) ◽  
pp. 999-1003
Author(s):  
Esther Ganelin-Cohen ◽  
Osnat Konen ◽  
Yoram Nevo ◽  
Rony Cohen ◽  
Ayelet Halevy ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Disease Onset ◽  
Brain Magnetic Resonance Imaging ◽  
Transverse Myelitis ◽  
Common Finding ◽  
Imaging Features ◽  
Imaging Findings ◽  
Resonance Imaging ◽  
Acute Transverse Myelitis

Acute transverse myelitis is a rare and disabling disorder. Data on the imaging features in children are sparse. The aim of this study was to describe the clinical and magnetic resonance imaging findings characteristic of pediatric idiopathic acute transverse myelitis and to identify those with prognostic value. The database of a tertiary pediatric medical center was retrospectively reviewed for patients aged less than 18 years who were diagnosed in 2002-2017 with acute transverse myelitis that was not associated with recurrence of a demyelinating autoimmune event. Data were collected on clinical, laboratory, and imaging findings and outcome. A total of 23 children (11 male, 12 female) met the study criteria. Mean age at disease onset was 10 years, and mean duration of follow-up was 6 years 10 months. Spinal cord and brain magnetic resonance imaging scans were performed on admission or shortly thereafter. The most common finding was cross-sectional involvement, in 16 patients (70%). The mean number of involved spinal segments was 8. The most frequently involved region was the thoracic spine, in 17 patients (74%). Clinical factors predicting good prognosis were cerebrospinal fluid pleocytosis, absence of tetraparesis, and prolonged time to nadir. In conclusion, most children with acute transverse myelitis appear to have a good outcome. Prompt diagnosis and treatment are important. Further research is needed in a larger sample to evaluate the predictive value of imaging features.

scholarly journals Serial Magnetic Resonance Imaging Findings in a Patient with Hyperglycemia-Related Osmotic Demyelination Syndrome: A Case Report

2018 ◽  
Author(s):  
Jong Hyuk Kim ◽  
Noh Hyuck Park
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Brain Magnetic Resonance Imaging ◽  
Imaging Features ◽  
Imaging Findings ◽  
Osmotic Demyelination Syndrome ◽  
Resonance Imaging ◽  
Osmotic Demyelination ◽  
Serial Magnetic Resonance Imaging ◽  
Sugar Levels

Abstract Background: The authors report serial magnetic resonance imaging findings of osmotic demyelination syndrome (ODS) related to hyperglycemia in a patient with uncontrolled diabetes mellitus. Case presentation: A 61-year-old man with diabetes was admitted for general weakness and severe thirst. A few days later, he complained of dysarthria, dysphasia, and dysmetria. On admission, he exhibited significant hyperglycemia (33.5 mmol/L [627 mg/dL]), with a glycated hemoglobin level of 18.1%. Other laboratory investigations revealed a sodium level of 133 mEq/L, potassium 3.8 mEq/L, blood urea nitrogen 43.9 mg/dL, with a calculated serum osmolality of 324 mOsm/kg. Brain magnetic resonance imaging (MRI) revealed T2 signal abnormalities that were symmetrical, non-space occupying, and located in the central pons with a peripheral sparing pattern, which were findings suggestive of ODS. In addition, subsequent MRI revealed progression of signal hyperintensity; however, the patient's symptoms were improved and he was discharged after 2 months. Conclusion: We report a rare case of hyperglycemia-related ODS that exhibited gradual progression in imaging features despite the prompt correction of blood sugar levels and improvement of neurological symptoms

Computed tomography and magnetic resonance imaging findings of primary bladder angiosarcoma: a case report

2014 ◽  
Vol 38 (2) ◽  
pp. 212-214 ◽  
Author(s):  
Mehmet Beyazal ◽  
Necip Pirinççi ◽  
Alpaslan Yavuz ◽  
Sercan Özkaçmaz ◽  
Gülay Bulut
Keyword(s):  
Magnetic Resonance Imaging ◽  
Computed Tomography ◽  
Case Report ◽  
Magnetic Resonance ◽  
Imaging Findings ◽  
Resonance Imaging ◽  
Primary Bladder

scholarly journals Kernohan-Woltman Notch Phenomenon—Case Report

2016 ◽  
Vol 38 (01) ◽  
pp. 056-059
Author(s):  
Carlos Pereira
Keyword(s):  
Magnetic Resonance Imaging ◽  
Case Report ◽  
Magnetic Resonance ◽  
Chronic Subdural Hematoma ◽  
Motor Deficit ◽  
Imaging Findings ◽  
Resonance Imaging ◽  
Mri Scan ◽  
Present Case Report ◽  
Magnetic Resonance Imaging Mri

AbstractThe Kernohan-Woltman notch phenomenon is a paradoxical neurological manifestation consisting of a motor deficit ipsilateral to a primary brain injury. It has been observed in patients with brain tumors and with supratentorial hematomas. It is considered a false localizing neurological sign. Magnetic resonance imaging (MRI) scan has been the test of choice. The recognition of this phenomenon is important to prevent a surgical procedure on the opposite side of the lesion. The present case report describes a case of chronic subdural hematoma with a probable finding of the Kernohan-Woltman phenomenon, and it discusses its pathophysiology, imaging findings, treatment, and prognosis.

scholarly journals Brain Magnetic Resonance Imaging Findings in Poorly Controlled Homocystinuria

2018 ◽  
Vol 12 (1) ◽  
Author(s):  
Charles Qingchuan Li ◽  
Bruce A Barshop ◽  
Annette Feigenbaum ◽  
Paritosh C Khanna
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Brain Magnetic Resonance Imaging ◽  
Imaging Findings ◽  
Resonance Imaging

Accessory Soleus Muscle

2004 ◽  
Vol 94 (6) ◽  
pp. 587-589 ◽  
Author(s):  
Tuba Karagülle Kendi ◽  
Aziz Erakar ◽  
Olcay Oktay ◽  
H. Yusuf Yildiz ◽  
Yener Saglik
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Soft Tissue ◽  
Soleus Muscle ◽  
Clinical Presentation ◽  
Imaging Features ◽  
Resonance Imaging ◽  
Tissue Mass ◽  
Anatomical Variant ◽  
Muscle Magnetic Resonance Imaging

Accessory soleus muscle is an uncommon anatomical variant that may present as a soft-tissue mass in the posteromedial region of the ankle. It is congenital in origin but usually presents in the second or third decade of life. Although it is a rare entity, accessory soleus muscle should be included in the differential diagnosis of soft-tissue swelling of the ankle. Awareness of the clinical presentation and specific findings of computed tomography, magnetic resonance imaging, and electromyography help with diagnosis without surgical exploration. We describe a 30-year-old patient with accessory soleus muscle. Magnetic resonance imaging features of the case are described, and the literature is briefly reviewed. (J Am Podiatr Med Assoc 94(6): 587–589, 2004)

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