scholarly journals A Novel SUCLA2 Mutation Presenting as a Complex Childhood Movement Disorder

2016 ◽  
Vol 32 (2) ◽  
pp. 246-250 ◽  
Author(s):  
Caterina Garone ◽  
Juliana Gurgel-Giannetti ◽  
Simone Sanna-Cherchi ◽  
Sindu Krishna ◽  
Ali Naini ◽  
...  
Keyword(s):  
Magnetic Resonance ◽  
Movement Disorder ◽  
Brain Mri ◽  
Brain Magnetic Resonance Imaging ◽  
Mitochondrial Respiratory Chain ◽  
Resonance Spectroscopy ◽  
Homozygous Mutation ◽  
Psychomotor Delay ◽  
Mtdna Depletion ◽  
Magnetic Resonance Imaging Mri

SUCLA2 defects have been associated with mitochondrial DNA (mtDNA) depletion and the triad of hypotonia, dystonia/Leigh-like syndrome, and deafness. A 9-year-old Brazilian boy of consanguineous parents presented with psychomotor delay, deafness, myopathy, ataxia, and chorea. Despite the prominent movement disorder, brain magnetic resonance imaging (MRI) was normal while 1H-magnetic resonance spectroscopy (MRS) showed lactate peaks in the cerebral cortex and lateral ventricles. Decreased biochemical activities of mitochondrial respiratory chain enzymes containing mtDNA-encoded subunits and mtDNA depletion were observed in muscle and fibroblasts. A novel homozygous mutation in SUCLA2, the first one in the ligase coenzyme A (CoA) domain of the protein, was identified. Escalating doses of CoQ10 up to 2000 mg daily were associated with improvement of muscle weakness and stabilization of the disease course. The findings indicate the importance of screening for mitochondrial dysfunction in patients with complex movement disorders without brain MRI lesions and further investigation for potential secondary CoQ10 deficiency in patients with SUCLA2 mutations.

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 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.

scholarly journals Slowly expanding/evolving lesions as a magnetic resonance imaging marker of chronic active multiple sclerosis lesions

2018 ◽  
Vol 25 (14) ◽  
pp. 1915-1925 ◽  
Author(s):  
Colm Elliott ◽  
Jerry S Wolinsky ◽  
Stephen L Hauser ◽  
Ludwig Kappos ◽  
Frederik Barkhof ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Multiple Sclerosis ◽  
Magnetic Resonance ◽  
Brain Mri ◽  
Brain Magnetic Resonance Imaging ◽  
Tissue Loss ◽  
Jacobian Determinant ◽  
Resonance Imaging ◽  
T2 Lesions ◽  
Magnetic Resonance Imaging Mri

Background: Chronic lesion activity driven by smoldering inflammation is a pathological hallmark of progressive forms of multiple sclerosis (MS). Objective: To develop a method for automatic detection of slowly expanding/evolving lesions (SELs) on conventional brain magnetic resonance imaging (MRI) and characterize such SELs in primary progressive MS (PPMS) and relapsing MS (RMS) populations. Methods: We defined SELs as contiguous regions of existing T2 lesions showing local expansion assessed by the Jacobian determinant of the deformation between reference and follow-up scans. SEL candidates were assigned a heuristic score based on concentricity and constancy of change in T2- and T1-weighted MRIs. SELs were examined in 1334 RMS patients and 555 PPMS patients. Results: Compared with RMS patients, PPMS patients had higher numbers of SELs ( p = 0.002) and higher T2 volumes of SELs ( p < 0.001). SELs were devoid of gadolinium enhancement. Compared with areas of T2 lesions not classified as SEL, SELs had significantly lower T1 intensity at baseline and larger decrease in T1 intensity over time. Conclusion: We suggest that SELs reflect chronic tissue loss in the absence of ongoing acute inflammation. SELs may represent a conventional brain MRI correlate of chronic active MS lesions and a candidate biomarker for smoldering inflammation in MS.

INCIDENTAL FINDINGS ON BRAIN MAGNETIC RESONANCE IMAGING (MRI) IN PEDIATRIC ENDOCRINE PATIENTS

2020 ◽  
Vol 26 (10) ◽  
pp. 1105-1114
Author(s):  
Avivit Brener ◽  
Danil A. Kozyrev ◽  
Shelly I. Shiran ◽  
Erez Azoulay ◽  
Li-tal Pratt ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Incidental Findings ◽  
Pediatric Patients ◽  
Brain Mri ◽  
Brain Magnetic Resonance Imaging ◽  
Hormone Deficiency ◽  
Resonance Imaging ◽  
Growth Disturbances ◽  
Magnetic Resonance Imaging Mri

Objective: To explore incidental findings on brain magnetic resonance imaging (MRI) studies of pediatric patients referred due to endocrine disorders. Methods: A retrospective, observational study conducted in a tertiary referral center. The neuroimaging database of 17,445 brain MRI studies of 11,011 pediatric patients were searched for cases with endocrine referrals and without medical history of malignancy, genetic syndromes, and/or neurologic comorbidities. This database was linked to the pediatric neurosurgical database. Clinical data were retrieved from medical files. Results: In total, 524 patients (50.2% males, mean age 8.5 ± 3.5 years) were referred to brain MRI due to growth disturbances (n = 313), pubertal disorders (n = 183), prolactin hypersecretion (n = 18), central diabetes insipidus (n = 8), and obesity (n = 1). Incidental findings were found in 128 (24.4%) cases. Chiari type 1 malformation was more prevalent in patients with growth disturbances ( P<.001). Small pituitary cysts were observed in 20 (3.8%) patients, and pineal cysts in 25 (4.8%) patients, mostly girls (68%, P<.001). White matter lesions were diagnosed in 30 (5.7%) patients, none with clinical evidence of neurologic disease. Brain asymmetry without clinical significance and developmental venous anomalies were observed in 14 (2.7%) and 8 (1.5%) patients, respectively. Twelve patients were diagnosed with intracranial tumors, and 5 required surgical intervention for a histopathologic diagnosis of juvenile pilocytic astrocytoma (n = 3), choroid plexus papilloma (n = 1), or inconclusive (n = 1). The rest were managed conservatively. Conclusion: Incidental findings on brain MRIs of pediatric patients referred by endocrinologists are common and raise dilemmas. The spectrum ranges from structural disruptions to tumors. Decision-making is individualized and patient-centered. Abbreviations: CPP = central precocious puberty; DI = diabetes insipidus; DVA = developmental venous anomaly; GHD = growth hormone deficiency; MPHD = multiple pituitary hormone deficiency; MRI = magnetic resonance imaging; RCC = Rathke cleft cyst

scholarly journals Reversible MR Findings in Marchiafava-Bignami Disease

2019 ◽  
Vol 2019 ◽  
pp. 1-3 ◽  
Author(s):  
Carmine Franco Muccio ◽  
Luca De Lipsis ◽  
Rossella Belmonte ◽  
Alfonso Cerase
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Death Rate ◽  
Demyelinating Disease ◽  
Brain Mri ◽  
Disease Process ◽  
Brain Magnetic Resonance Imaging ◽  
Type B ◽  
Resonance Imaging ◽  
Magnetic Resonance Imaging Mri

Marchiafava-Bignami Disease (MBD) is a toxic demyelinating disease often diagnosed in chronic alcoholics. The disease process typically involves the corpus callosum and clinically presents with various manifestations resulting in MBD type A and type B on the basis of clinical condition, extent of callosal involvement and extracallosal involvement at brain magnetic resonance imaging (MRI), and prognosis. The death rate is high. We report a patient affected by MBD type B, who presented an isolated reversible splenial lesion at brain MRI and achieved a favorable recovery.

Prevalence of brain magnetic resonance imaging meeting Barkhof and McDonald criteria for dissemination in space among headache patients

2013 ◽  
Vol 19 (8) ◽  
pp. 1101-1105 ◽  
Author(s):  
Syrone Liu ◽  
Jonathan Kullnat ◽  
Dennis Bourdette ◽  
Jack Simon ◽  
Dale F Kraemer ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Demyelinating Disease ◽  
Brain Mri ◽  
Brain Magnetic Resonance Imaging ◽  
Resonance Imaging ◽  
Post Contrast ◽  
Mcdonald Criteria ◽  
Magnetic Resonance Imaging Mri ◽  
Headache Patients

Background: Incidental T2 white matter hyperintensities (WMHs) in headache patients on brain magnetic resonance imaging (MRI) may prompt concern for demyelinating disease. Objective: We reviewed brain MRI studies in patients with headaches without known demyelinating disease to determine the prevalence meeting imaging criteria for multiple sclerosis (MS) using two different definitions of “juxtacortical” and “periventricular”. Methods: Consecutive patients undergoing pre- and post-contrast MRI for headaches over a 25-month period were retrospectively identified. Exclusions included patients under age 10 and over 55 years or with known demyelinating disorder. Patients were classified as meeting: 1) Barkhof and 2) 2010 McDonald dissemination in space criteria for MS based on: FLAIR/T2 scans for WMH and enhanced T1-weighted images for enhancement. Both groups were further differentiated by defining “periventricular” and “juxtacortical” as WMH contacting ventricle and cortex (Barkhof “touching”, McDonald “touching”) versus WMH within 3 mm (Barkhof – 3 mm, McDonald – 3 mm). Results: 326/564 (58%) studies met inclusion criteria. WMH prevalence was 168/326 (51.53%). Barkhof “touching” criteria were met in 4/168 (2.4%) and in 12/168 (7.1%) of the 3 mm group. McDonald criteria were met in 41/168 (24.4%) for “touching” and 58/168 (34.5%) for 3 mm, respectively. Conclusion: Barkhof and McDonald criteria were met in 2.4–7.1% and 24.4–34.5%, respectively.

Brain magnetic resonance imaging findings in acute relapses of neuromyelitis optica spectrum disorders

2007 ◽  
Vol 14 (2) ◽  
pp. 248-251 ◽  
Author(s):  
JA Cabrera-Gómez ◽  
A. Saiz-Hinarejos ◽  
F. Graus ◽  
A. González-Quevedo ◽  
R. Rodríguez-Rojas ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Neuromyelitis Optica ◽  
Brain Mri ◽  
Brain Magnetic Resonance Imaging ◽  
Transverse Myelitis ◽  
Resonance Imaging ◽  
Igg Antibody ◽  
Magnetic Resonance Imaging Mri ◽  
Extensive Transverse Myelitis

We studied cranial magnetic resonance imaging (MRI) lesions in three women with acute attacks of recurrent longitudinally extensive transverse myelitis (r-LETM), recurrent-optic neuritis (r-ON) and r-LETM-CNS. Neuromyelitis Optica -immunoglobulin (IgG) antibody was positive in all cases. Brain MRI (1.5 Tesla) was performed according to protocol from consortium MS centre. We described the cranial lesions in brain MRI of acute relapses. These lesions were different from MS, most had an asymptomatic course which disappeared with time, protocol from consortium of MS centre criteria for brain MRI and seropositivity of NMO-IgG are useful tools for differentiate acute lesions of NMO/MS. Multiple Sclerosis 2008; 14: 248—251. http://msj.sagepub.com

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