scholarly journals GALC mutations in Chinese patients with late-onset Krabbe disease: a case report

2019 ◽  
Author(s):  
Shunzhi Zhuang ◽  
Lingen Kong ◽  
Caiming Li ◽  
Likun Chen ◽  
Tingting Zhang
Keyword(s):  
Vision Loss ◽  
Late Onset ◽  
Brain Mri ◽  
Brain Magnetic Resonance Imaging ◽  
Molecular Data ◽  
Krabbe Disease ◽  
Chinese Patients ◽  
Case Presentation ◽  
Corticospinal Tracts ◽  
Magnetic Resonance Imaging Mri

Abstract Background: Krabbe disease (also known as globoid cell leukodystrophy) cause by a deficiency of the enzyme -galactocerebrosidase (galactosylceramidase, GALC). The deficiency of GALC leads to accumulation of galactosylceramide and psychosine, the latter GALC substrate having a potential role in triggering demyelination. Typically, the disease has an infantile onset, with rapid deterioration in the first few months, leading to death before the age of 2 years. The late onset forms (late-infantile, juvenile, and adult forms) are rare with variable clinical outcomes, presenting spastic paraplegia as the main symptom. Case presentation: We recruited a family with two affected individuals. The proband (Patient 1), a 25-year-old male, was presented with slow progressive symptoms, including spastic gait disturbance and vision loss since the 5th year of life. His elder sister (Patient 2), became wheelchair-bound and demented at the age of 22 years. Brain magnetic resonance imaging (MRI) showed increased signal intensity in the white matter along with the involvement of the bilateral corticospinal tracts. GALC deficiency was confirmed by biochemical analysis. DNA sequencing revealed two mutations (c.865G>C: p. G289R and c.136G>T: p. D46Y) in GALC. The clinical characteristics, brain MRI, biochemical and molecular findings led to the diagnosis of Krabbe disease. Conclusion: Clinical and neuroimaged signs, positive enzymatic analysis and molecular data converged to definite diagnosis in this neurodegenerative disease.

scholarly journals GALC mutations in Chinese patients with late-onset Krabbe disease: a case report

2019 ◽  
Author(s):  
Shunzhi Zhuang ◽  
Lingen Kong ◽  
Caiming Li ◽  
Likun Chen ◽  
Tingting Zhang
Keyword(s):  
Vision Loss ◽  
Neurodegenerative Disorder ◽  
Late Onset ◽  
Brain Mri ◽  
Brain Magnetic Resonance Imaging ◽  
Molecular Data ◽  
Krabbe Disease ◽  
Chinese Patients ◽  
Corticospinal Tracts ◽  
Magnetic Resonance Imaging Mri

Abstract Background: Krabbe disease (also known as globoid cell leukodystrophy) is an autosomal recessive neurodegenerative disorder caused by a deficiency of the enzyme -galactocerebrosidase (galactosylceramidase, GALC). The deficiency of GALC leads to accumulation of galactosylceramide and psychosine, the latter GALC substrate having a potential role in triggering demyelination. Typically, the disease has an infantile onset, with rapid deterioration in the first few months, leading to death before the age of 2 years. The late onset forms (late-infantile, juvenile, and adult forms) are rare with variable clinical outcomes, presenting spastic paraplegia as the main symptom. Case presentation: We recruited a family with two affected individuals. The proband (Patient 1), a 25-year-old male, was presented with slow progressive spastic gait disturbance and vision loss, suffering since the 5th year of life. His elder sister (Patient 2), became wheelchair-bound and demented at the age of 22 years. Brain magnetic resonance imaging (MRI) showed increased signal intensity in the white matter along with the involvement of the bilateral corticospinal tracts. GALC deficiency was confirmed by biochemical analysis. DNA sequencing revealed two mutations (c.865G>C: p. G289R and c.136G>T: p. D46Y) in GALC. The clinical characteristics, brain MRI, biochemical and molecular findings led to the diagnosis of Krabbe disease. Conclusion: Clinical and neuroimaged signs, positive enzymatic analysis and molecular data converged to definite diagnosis in this neurodegenerative disease.

scholarly journals Neuron-specific Enolase Level after the Onset of Delayed Neurological Sequelae with Acute Carbon Monoxide Intoxication

2020 ◽  
Keyword(s):  
Carbon Monoxide ◽  
Reference Range ◽  
Brain Mri ◽  
Neuron Specific Enolase ◽  
Brain Magnetic Resonance Imaging ◽  
Case Presentation ◽  
Neurological Sequelae ◽  
Normal Reference Range ◽  
Co Intoxication ◽  
Magnetic Resonance Imaging Mri

Background: Delayed neurological sequelae (DNS) is a major problem in carbon monoxide (CO) intoxication. Many other studies have showed whether serum NSE of acute phase can predict DNS in CO poisoning. However, no study has examined NSE levels after development of DNS. Therefore, we report serum NSE levels after the onset of DNS. Case presentation: We described the NSE levels in two cases of DNS. The first was a 33-year-old woman who presented with concentration problems 39 days after CO exposure. The second was a 51-year-old woman who presented with gait disturbance and urinary incontinence 23 days after CO exposure. Brain magnetic resonance imaging (MRI) and NSE levels were obtained in both patients. Brain MRI confirmed brain injury and the diagnosis of DNS was made. The NSE levels of the two patients were 12.51 and 16.18 ng/mL, respectively. Conclusion: Although the initial NSE elevated level may be useful in the prediction of carbon monoxide induced DNS, it may be decreased to normal reference range after the onset of DNS.

Pediatric Reversible Cerebral Vasoconstriction Syndrome: Two Unique Cases with a Review of all Reported Children

2021 ◽  
Author(s):  
Neelu Desai ◽  
Rahul Badheka ◽  
Nitin Shah ◽  
Vrajesh Udani
Keyword(s):  
Magnetic Resonance ◽  
Cerebral Arteries ◽  
Brain Mri ◽  
Brain Magnetic Resonance Imaging ◽  
Reversible Cerebral Vasoconstriction Syndrome ◽  
Neurological Deficits ◽  
Cerebral Vasoconstriction ◽  
Magnetic Resonance Imaging Mri ◽  
Reversible Encephalopathy ◽  
Mr Angiogram

AbstractReversible cerebral vasoconstriction syndrome (RCVS) has been well described in adults, but pediatric cases are yet under recognized. We describe two children with RCVS and review similar already published pediatric cases. The first patient was a 10-year-old girl who presented with severe headaches and seizures 3 days after blood transfusion. Brain magnetic resonance imaging (MRI) showed changes compatible with posterior reversible encephalopathy syndrome and subarachnoid hemorrhage. Magnetic resonance angiogram showed diffuse vasoconstriction of multiple cerebral arteries. The second patient was a 9-year-old boy who presented with severe thunderclap headaches. Brain MRI showed isolated intraventricular hemorrhage. Computed tomography/MR angiogram and digital subtraction angiogram were normal. A week later, he developed focal neurological deficits. Repeated MR angiogram showed diffuse vasospasm of multiple intracranial arteries. Both children recovered completely. A clinico-radiological review of previously reported childhood RCVS is provided.

scholarly journals Prevalence and Clinical Implications of Incidentally Detected Parotid Lesions as Blind Spot on Brain MRI: A Single-Center Experience

Medicina ◽  
2021 ◽  
Vol 57 (8) ◽  
pp. 836
Author(s):  
In-Chul Nam ◽  
Hye-Jin Baek ◽  
Kyeong-Hwa Ryu ◽  
Jin-Il Moon ◽  
Eun Cho ◽  
...  
Keyword(s):  
Brain Mri ◽  
Brain Magnetic Resonance Imaging ◽  
Blind Spot ◽  
Clinical Implications ◽  
Single Center Experience ◽  
Superficial Lobe ◽  
Mean Size ◽  
Magnetic Resonance Imaging Mri ◽  
Clinical Awareness ◽  
Low Prevalence

Background and objective: This study was conducted to assess the prevalence and clinical implications of parotid lesions detected incidentally during brain magnetic resonance imaging (MRI) examination. Materials and Methods: Between February 2016 and February 2021, we identified 86 lesions in the brain MRI reports of 84 patients that contained the words “parotid gland” or “PG”. Of these, we finally included 49 lesions involving 45 patients following histopathological confirmation. Results: Based on the laboratory, radiological or histopathological findings, the prevalence of incidental parotid lesions was low (1.2%). Among the 45 study patients, 41 (91.1%) had unilateral lesions, and the majority of the lesions were located in the superficial lobe (40/49, 81.6%). The mean size of the parotid lesions was 1.3 cm ± 0.4 cm (range, 0.5 cm–2.8 cm). Of these, 46 parotid lesions (93.9%) were benign, whereas the remaining three lesions were malignant (6.1%). Conclusions: Despite the low prevalence and incidence of malignancy associated with incidental parotid lesions detected on brain MRI, the clinical implications are potentially significant. Therefore, clinical awareness and appropriate imaging work-up of these lesions are important for accurate diagnosis and timely management.

scholarly journals Ensemble classification and segmentation for intracranial metastatic tumors on MRI images based on 2D U-nets

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Cheng-Chung Li ◽  
Meng-Yun Wu ◽  
Ying-Chou Sun ◽  
Hung-Hsun Chen ◽  
Hsiu-Mei Wu ◽  
...  
Keyword(s):  
Active Contour Model ◽  
Brain Mri ◽  
Gamma Knife Radiosurgery ◽  
Imbalanced Data ◽  
Brain Magnetic Resonance Imaging ◽  
Region Of Interest ◽  
Ensemble Classification ◽  
Metastatic Tumors ◽  
Post Contrast ◽  
Magnetic Resonance Imaging Mri

AbstractThe extraction of brain tumor tissues in 3D Brain Magnetic Resonance Imaging (MRI) plays an important role in diagnosis before the gamma knife radiosurgery (GKRS). In this article, the post-contrast T1 whole-brain MRI images had been collected by Taipei Veterans General Hospital (TVGH) and stored in DICOM format (dated from 1999 to 2018). The proposed method starts with the active contour model to get the region of interest (ROI) automatically and enhance the image contrast. The segmentation models are trained by MRI images with tumors to avoid imbalanced data problem under model construction. In order to achieve this objective, a two-step ensemble approach is used to establish such diagnosis, first, classify whether there is any tumor in the image, and second, segment the intracranial metastatic tumors by ensemble neural networks based on 2D U-Net architecture. The ensemble for classification and segmentation simultaneously also improves segmentation accuracy. The result of classification achieves a F1-measure of $$75.64\%$$ 75.64 % , while the result of segmentation achieves an IoU of $$84.83\%$$ 84.83 % and a DICE score of $$86.21\%$$ 86.21 % . Significantly reduce the time for manual labeling from 30 min to 18 s per patient.

Unusual presentation of acute encephalopathy with biphasic seizures and late reduced diffusion in Miller–Dieker syndrome

2019 ◽  
Author(s):  
Satoru Kobayashi ◽  
Mai Kamishima ◽  
Akari Tago ◽  
Kyoko Yokoi ◽  
Satoshi Suzuki
Keyword(s):  
Brain Magnetic Resonance Imaging ◽  
Subcortical White Matter ◽  
Acute Encephalopathy ◽  
Case Presentation ◽  
Delta Waves ◽  
Diffusion Weighted Images ◽  
Disturbance Of Consciousness ◽  
Intravenous Diazepam ◽  
Severe Motor ◽  
Magnetic Resonance Imaging Mri

Abstract Background: Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a unique subtype of acute encephalopathy that occurs in children. To date, there is no description of a patient with concurrent Miller–Dieker syndrome (MDS) and AESD. Case presentation: We present a case of 2-year-old girl with MDS, who was admitted for status epilepticus with a high fever, was diagnosed with AESD. She exhibited seizure for more than 1 h, which disappeared after administration of intravenous diazepam and phenobarbital. Brain magnetic resonance imaging (MRI), performed on the third day post-admission because she had not regained consciousness after the seizure ceased, showed abnormally high intensities in subcortical white matter, predominantly in the frontal areas on diffusion-weighted images (DWI). Acute encephalitis/encephalopathy was diagnosed based on electroencephalography (EEG) findings of diffuse high-voltage delta waves without seizure activity. Six days post-admission, frequent apneic episodes were observed, with oxygen desaturation due to clustered seizures. Although seizures disappeared with continuous intravenous midazolam, subclinical seizures were present in amplitude-integrated EEG (aEEG); these were suppressed by increasing the midazolam dose. Conclusion: This is the first report of AESD in a patient with MDS. Ther disturbance of consciousness was difficult to recognize because of severe motor and intellectual disabilities due to MDS. EEG aids the evaluation of consciousness in the acute phase, and aEEG can be helpful for monitoring and controlling subclinical seizures in the biphasic phase of AESD, especially patients with underlying neurological disorders.

scholarly journals Can we evaluate cranial aneurysms on conventional brain magnetic resonance imaging?

2016 ◽  
Vol 7 (01) ◽  
pp. 83-86 ◽  
Author(s):  
Emine Caliskan ◽  
Yeliz Pekcevik ◽  
Adnan Kaya
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Characteristic Curve ◽  
Brain Mri ◽  
Brain Magnetic Resonance Imaging ◽  
Kappa Statistics ◽  
Resonance Imaging ◽  
Vascular Structures ◽  
Magnetic Resonance Imaging Mri ◽  
Age Range

ABSTRACT Purpose: To evaluate the contribution of conventional brain magnetic resonance imaging (MRI) for the determination of intracranial aneurysms. Materials and Methods: Brain MRI and computed tomography angiography (CTA) of 45 patients (29 women and 16 men; age range, 32–80 years) with aneurysm were analyzed. A comparison was made between brain MRI and CTA based on size and presence of aneurysm. The comparisons between MRI and CTA were investigated through Bland-Altman graphics, receiver operating characteristic curve, and Kappa statistics. Results: Fifty-seven aneurysms were evaluated. Forty-five percent of 57 aneurysms on CTA were detected on conventional brain MRI. A significant correlation was found between CTA and brain MRI in the diagnosis of aneurysm (P < 0.05). In an analysis of the size measurement, a significant correlation was observed between CTA and brain MRI. Seventy-seven percent of aneurysms <4 mm was not detected and the efficiency of MRI in the detection of aneurysms <4 mm was found to be low. Conclusion: Aneurysms can also be appreciated on conventional brain MRI, and vascular structures should be reviewed carefully while analyzing brain MRI.

Catamenial Synkinetic Retroauricular Pain

Cephalalgia ◽  
2003 ◽  
Vol 23 (3) ◽  
pp. 214-217 ◽  
Author(s):  
DE Jacome
Keyword(s):  
White Matter Hyperintensities ◽  
Rare Complication ◽  
Brain Mri ◽  
Brain Magnetic Resonance Imaging ◽  
Bell’S Palsy ◽  
Bell's Palsy ◽  
Patient Reported ◽  
Magnetic Resonance Imaging Mri ◽  
Eye Closure ◽  
Facial Synkinesis

A report of two female patients with persistent unilateral retroauricular pain and cranial synkinesis following Bell's palsy. Pain occurred during menses in the first patient and was exacerbated by menses in the second patient. Retroauricular pain often precedes or follows Bell's palsy. Pain normally disappears within 2 weeks from the onset of paralysis. Neurological examination, brain magnetic resonance imaging (MRI), computed tomography of the head and cranial electrophysiological testing were performed. The first patient had severe right retroauricular pain during her menses for several years following Bell's palsy. Her brain MRI showed non-specific T2 white matter hyperintensities. On her electromyogram she had facial synkinesis with tonic motor unit discharges on her right orbicularis oris and mentalis muscles during sustained eye closure. The second patient reported hearing a sound over her left ear when she blinked or protruded her jaw after Bell's palsy. She had ipsilateral retroauricular pain, exacerbated during menses. Her brain MRI was normal. Electromyogram showed facial synkinesis. Chronic retroauricular pain, occurring or exacerbated during menses, may be a rare complication of Bell's palsy. It can be associated with facial subclinical synkinetic dystonia and trigemino-facial synkinesis.

scholarly journals Hypertrophic olivary degeneration concomitant with bilateral middle cerebellar peduncles Wallerian degeneration following unilateral pontine infarction

BMC Neurology ◽  
2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Bing Bao ◽  
Xiangbin Wu ◽  
Zhongbin Xia ◽  
Yaoyao Shen
Keyword(s):  
Wallerian Degeneration ◽  
Corticospinal Tract ◽  
Brain Magnetic Resonance Imaging ◽  
Acute Onset ◽  
Case Presentation ◽  
Hypertrophic Olivary Degeneration ◽  
Pontine Infarction ◽  
Cerebellar Peduncles ◽  
Magnetic Resonance Imaging Mri

Abstract Background Wallerian degeneration (WD) can occur in different projecting systems, such as corticospinal tract, dentate-rubro-olivary pathway, and corticopontocerebellar tract. However, the co-occurrence of hypertrophic olivary degeneration (HOD) and middle cerebellar peduncles (MCPs) degeneration secondary to unilateral pontine infarction in a single patient is extremely rare. Case presentation A 71-year-old man presented with acute onset of dizzness, slurred speech, and right-sided weakness. On the next day, his previous neurologic deficits deteriorated. Brain magnetic resonance imaging (MRI) revealed acute ischemic stroke of the left pons. After treatment with thrombolysis, antiplatelets, and rehabilitation training, his speaking and motor function improved moderately. At the 3-month follow-up, the MRI showed hyperintensity in the left medulla oblongata and bilateral MCPs on T2-weighted and FLAIR images, suggesting HOD as well as MCPs degeneration. Conclusions It is of great importance for us to know the anatomic knowledge of dentate-rubro-olivary and corticopontocerebellar pathways.

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