scholarly journals Novel PANK2 mutation identified in patient with pantothenate kinase-associated neurodegeneration

2020 ◽  
Vol 148 (3-4) ◽  
pp. 203-206
Author(s):  
Marina Svetel ◽  
Ivana Novakovic ◽  
Svetlana Tomic ◽  
Nikola Kresojevic ◽  
Vladimir Kostic
Keyword(s):  
Radiological Finding ◽  
Disease Onset ◽  
Brain Magnetic Resonance Imaging ◽  
The Novel ◽  
Resonance Imaging ◽  
Pantothenate Kinase ◽  
Jaw Opening ◽  
In Silico Analyses ◽  
Chromosome 20P13 ◽  
Progressive Course

Introduction. Pantothenate kinase-associated neurodegeneration (PKAN) is a rare, recessively inherited disorder caused by mutations in the pantothenate kinase 2 (PANK2) gene on chromosome 20p13. The objective of this report is to present a patient with atypical PKAN with the novel heterozygous PANK2 mutation. Case outline. We present a 32-year-old female who had disease onset at the age 20 (depression, speech, chewing problems and backward falls) with progressive course. Neurological examination revealed hypomimia, risus sardonicus, dysphagia, tachylalia and severe dystonic dysarthria, moderate arms, legs, and jaw-opening dystonia, postural instability, urge incontinence, and decreased visual acuity. Brain magnetic resonance imaging revealed iron accumulation in the bilateral globus pallidus and putamen (?eye-of-the-tiger?), a radiological finding pathognomonic for PKAN. Genetic analysis revealed known mutation p.T528M (c.1583C>T) in exon 6, and novel p.Y405D (c.1213T>G) in exon 3 of the PANK2 gene. In silico analyses strongly suggested this mutation to be pathogenic. Conclusion. We report a patient with PKAN, and novel substitution p.Y405D (c.1213T>G) in PANK2 that has not been previously described in PKAN patients.

Fluctuating Vision Loss, Seizures, and Left Parieto-Occipital Mass

2021 ◽  
pp. 22-25
Author(s):  
Alicja Kalinowska-Lyszczarz ◽  
W. Oliver Tobin ◽  
Yong Guo ◽  
Claudia F. Lucchinetti
Keyword(s):  
Magnetic Resonance Imaging ◽  
Cerebrospinal Fluid ◽  
Magnetic Resonance ◽  
Demyelinating Disease ◽  
Disease Onset ◽  
Brain Magnetic Resonance Imaging ◽  
Resonance Imaging ◽  
Intravenous Methylprednisolone ◽  
Fluid Analysis ◽  
Demyelinating Lesions

A 35-year-old man sought care for progressive visual disturbance. Magnetic resonance imaging of the brain showed a large, left-sided, parieto-occipital, contrast-enhancing lesion. He was treated with dexamethasone with brief improvement in vision. Within 5 days he had progressive vision worsening. Two weeks after the onset of his symptoms, brain magnetic resonance imaging showed a decrease in lesion size, and corticosteroids were discontinued. Two months after symptom onset he was found to have alexia without agraphia, and follow-up magnetic resonance imaging showed an increased size of the lesion. Two months after disease onset, the patient underwent a left occipital brain biopsy, which demonstrated a macrophage-enriched active demyelinating lesion with relative axonal sparing. Right arm weakness and aphasia developed, along with a fever. He was treated with dexamethasone. Electroencephalography indicated multiple seizures. Repeated cerebrospinal fluid analysis showed a slightly increased white blood cell count, increased protein level, immunoglobulin G index of 0.84, and the presence of 3 cerebrospinal fluid-unique oligoclonal bands. He was treated with 5 days of intravenous methylprednisolone and levetiracetam, with improvement. Three and a half years later, the patient came to the emergency department with weakness of the left leg associated with reduced sensation. Spinal magnetic resonance imaging showed a new demyelinating contrast-enhancing lesion from T2 to T7. He was treated with 5 days of intravenous methylprednisolone followed by 6 sessions of plasma exchange, with improvement. A diagnosis of relapsing tumefactive demyelination was made. The patient was subsequently treated with ocrelizumab. Tumefactive demyelinating lesions pose a diagnostic challenge, especially if they are the first manifestations of demyelinating disease. Typically, tumefactive demyelinating lesions are large (>2 cm) and are associated with edema, mass effect, and variable patterns of contrast enhancement.

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.

Nonketotic Hyperglycemic Chorea in a 10-Year-Old Asian Boy with Diabetes Mellitus

2020 ◽  
Author(s):  
Julia Marian ◽  
Firdous Rizvi ◽  
Lily Q. Lew
Keyword(s):  
Diabetes Mellitus ◽  
Parietal Lobe ◽  
Rare Complication ◽  
Brain Magnetic Resonance Imaging ◽  
Food Allergies ◽  
Developmental Venous Anomaly ◽  
Venous Anomaly ◽  
Resonance Imaging ◽  
Focal Lesions

AbstractNonketotic hyperglycemic chorea-ballism (NKHCB), also known as diabetic striato-pathy (DS) by some, is a rare complication of diabetes mellitus and uncommon in children. We report a case of a 10 11/12-year-old boy of Asian descent with uncontrolled type 1 diabetes mellitus (T1DM), Hashimoto's thyroiditis, and multiple food allergies presenting with bilateral chorea-ballism. His brain magnetic resonance imaging revealed developmental venous anomaly in right parietal lobe and right cerebellum, no focal lesions or abnormal enhancements. Choreiform movements resolved with correction of hyperglycemia. Children and adolescents with a movement disorder should be evaluated for diabetes mellitus, especially with increasing prevalence and insidious nature of T2DM associated with obesity.

Unusual causes of trigeminal neuralgia treated by gamma knife radiosurgery

2002 ◽  
Vol 97 ◽  
pp. 533-535 ◽  
Author(s):  
Jin Woo Chang ◽  
Jae Young Choi ◽  
Young Sul Yoon ◽  
Yong Gou Park ◽  
Sang Sup Chung
Keyword(s):  
Trigeminal Neuralgia ◽  
Gamma Knife ◽  
Fourth Ventricle ◽  
Gamma Knife Radiosurgery ◽  
Brain Magnetic Resonance Imaging ◽  
Resonance Imaging ◽  
Segmental Demyelination ◽  
Content Type ◽  
Clinical Responses ◽  
Fine Print

✓ The purpose of this paper was to present two cases of secondary trigeminal neuralgia (TN) with an unusual origin and lesion location. In two cases TN was caused by lesions along the course of the trigeminal nerve within the pons and adjacent to the fourth ventricle. Both cases presented with typical TN. Brain magnetic resonance imaging revealed linear or wedge-shaped lesions adjacent to the fourth ventricle, extending anterolaterally and lying along the pathway of the intraaxial trigeminal fibers. The involvement of the nucleus of the spinal trigeminal tract and of the principal sensory trigeminal nucleus with segmental demyelination are suggested as possible causes for trigeminal pain in these cases. It is postulated that these lesions are the result of an old viral neuritis. The patients underwent gamma knife radiosurgery and their clinical responses have been encouraging to date.

scholarly journals Identifying a Common Functional Framework for Apathy Large-Scale Brain Network

2021 ◽  
Vol 11 (7) ◽  
pp. 679
Author(s):  
Vincenzo Alfano ◽  
Mariachiara Longarzo ◽  
Giulia Mele ◽  
Marcello Esposito ◽  
Marco Aiello ◽  
...  
Keyword(s):  
Large Scale ◽  
Brain Magnetic Resonance Imaging ◽  
Brain Network ◽  
Neural Pathways ◽  
Resonance Imaging ◽  
Daily Life Activities ◽  
Functional Differences ◽  
Central Gyrus ◽  
Magnetic Resonance Imaging Mri ◽  
Disease Specific

Apathy is a neuropsychiatric condition characterized by reduced motivation, initiative, and interest in daily life activities, and it is commonly reported in several neurodegenerative disorders. The study aims to investigate large-scale brain networks involved in apathy syndrome in patients with frontotemporal dementia (FTD) and Parkinson’s disease (PD) compared to a group of healthy controls (HC). The study sample includes a total of 60 subjects: 20 apathetic FTD and PD patients, 20 non apathetic FTD and PD patients, and 20 HC matched for age. Two disease-specific apathy-evaluation scales were used to measure the presence of apathy in FTD and PD patients; in the same day, a 3T brain magnetic resonance imaging (MRI) with structural and resting-state functional (fMRI) sequences was acquired. Differences in functional connectivity (FC) were assessed between apathetic and non-apathetic patients with and without primary clinical diagnosis revealed, using a whole-brain, seed-to-seed approach. A significant hypoconnectivity between apathetic patients (both FTD and PD) and HC was detected between left planum polare and both right pre- or post-central gyrus. Finally, to investigate whether such neural alterations were due to the underlying neurodegenerative pathology, we replicated the analysis by considering two independent patients’ samples (i.e., non-apathetic PD and FTD). In these groups, functional differences were no longer detected. These alterations may subtend the involvement of neural pathways implicated in a specific reduction of information/elaboration processing and motor outcome in apathetic patients.

scholarly journals Cinematic rendering of a burst sagittal suture caused by an occipito-frontal gunshot wound

2021 ◽  
Author(s):  
Dominic Gascho ◽  
Michael J. Thali ◽  
Rosa M. Martinez ◽  
Stephan A. Bolliger
Keyword(s):  
Gunshot Wound ◽  
Three Dimensional ◽  
The Novel ◽  
Sagittal Suture ◽  
Resonance Imaging ◽  
Cinematic Rendering ◽  
Reconstruction Methods ◽  
Dimensional Reconstruction ◽  
Magnetic Resonance Imaging Mri ◽  
The Brain

AbstractThe computed tomography (CT) scan of a 19-year-old man who died from an occipito-frontal gunshot wound presented an impressive radiating fracture line where the entire sagittal suture burst due to the high intracranial pressure that arose from a near-contact shot from a 9 mm bullet fired from a Glock 17 pistol. Photorealistic depictions of the radiating fracture lines along the cranial bones were created using three-dimensional reconstruction methods, such as the novel cinematic rendering technique that simulates the propagation and interaction of light when it passes through volumetric data. Since the brain had collapsed, depiction of soft tissue was insufficient on CT images. An additional magnetic resonance imaging (MRI) examination was performed, which enabled the diagnostic assessment of cerebral injuries.

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