Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings

2021 ◽  
Author(s):  
Alessandra D'Amico ◽  
Carmen Rosano ◽  
Luca Pannone ◽  
Valentina Pinna ◽  
Antonia Assunto ◽  
...  
Keyword(s):  
Brain Mri ◽  
Neurofibromatosis 1 ◽  
Mri Findings ◽  
Clinical Variability

Do multimodal evoked potentials add information to MRI in clinically isolated syndromes?

2009 ◽  
Vol 16 (1) ◽  
pp. 55-61 ◽  
Author(s):  
R. Pelayo ◽  
X. Montalban ◽  
T. Minoves ◽  
D. Moncho ◽  
J. Rio ◽  
...  
Keyword(s):  
Evoked Potentials ◽  
Auditory Evoked Potentials ◽  
Brain Mri ◽  
Expanded Disability Status Scale ◽  
Mri Findings ◽  
Diagnosis And Prognosis ◽  
Disability Status ◽  
Complete Study ◽  
Multimodal Evoked Potentials

The role of multimodal evoked potentials (MMEPs) in establishing multiple sclerosis (MS) diagnosis and prognosis has diminished nowadays. The objective of this article is to evaluate whether MMEPs add information to MRI in identifying patients with higher risk of relapse or development of disability after a clinically isolated syndrome (CIS). Patients who underwent visual, somato-sensory and brainstem auditory evoked potentials (EPs) were identified from a cohort of consecutive CIS. Patients also underwent brain MRI within 3 months of first attack. We analysed time to second attack and to Expanded Disability Status Scale (EDSS) score of 3.0 according to number of Barkhof criteria and number of abnormal MMEPs. A complete study was performed in 245 patients who were followed for a mean of 76.4 months (interquartile range: 61 to 96). Seventy-one patients (29%) had the three EPs normal, 115 patients (47%) had one abnormal EP; 40 patients (16%) had two; and 19 patients (8%) had three abnormal EPs. Baseline MRI determined the risk for converting to clinically definite MS and correlated with disability according to previous studies. EPs individually did not modify the risk of conversion or disability. However, the presence of three abnormal EPs increased the risk of reaching moderate disability (hazard ratio 7.0; 1.4—34.9) independently of baseline MRI. In conclusion, in the presence of three abnormal EPs could help identify CIS patients with a higher risk of developing disability, independently of MRI findings. However, the utility of MMEPs is limited by the low percentage of CIS patients having the three abnormal at baseline.

Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4–Associated Hereditary Spastic Paraplegia

Neurology ◽  
2021 ◽  
pp. 10.1212/WNL.0000000000012836
Author(s):  
Darius Ebrahimi-Fakhari ◽  
Julian E Alecu ◽  
Marvin Ziegler ◽  
Gregory Geisel ◽  
Catherine Jordan ◽  
...  
Keyword(s):  
White Matter ◽  
Corpus Callosum ◽  
Brain Development ◽  
Hereditary Spastic Paraplegia ◽  
Anterior Commissure ◽  
Brain Mri ◽  
Adaptor Protein ◽  
Spastic Paraplegia ◽  
Mri Findings

Background and Objectives:AP-4-associated hereditary spastic paraplegia (AP-4-HSP: SPG47, SPG50, SPG51, SPG52) is an emerging cause of childhood-onset hereditary spastic paraplegia and mimic of cerebral palsy. This study aims to define the spectrum of brain MRI findings in AP-4-HSP and to investigate radio-clinical correlations.Methods:A systematic qualitative and quantitative analysis of 107 brain MRI studies from 76 individuals with genetically-confirmed AP-4-HSP and correlation with clinical findings including surrogates of disease severity.Results:We define AP-4-HSP as a disorder of gray and white matter and demonstrate that abnormal myelination is common and that metrics of reduced white matter volume correlate with severity of motor symptoms. We identify a common diagnostic imaging signature consisting of (1) a thin splenium of the corpus callosum, (2) an absent or thin anterior commissure, (3) characteristic signal abnormalities of the forceps minor (“ears of the grizzly sign”), and (4) periventricular white matter abnormalities. The presence of two or more of these findings has a sensitivity of ∼99% for detecting AP-4-HSP, while the combination of all four is found in ∼45% of cases. Compared to other HSP with a thin corpus callosum, the absent anterior commissure appears to be specific to AP-4-HSP. Our analysis further identified a subset of AP-4-HSP patients with polymicrogyria, underscoring the role of AP-4 in early brain development. Of clinical importance, these patients displayed a higher prevalence of seizures and status epilepticus, many at a young age.Discussion:Our findings define the MRI spectrum of AP-4-HSP providing opportunities for early diagnosis, identification of individuals at risk for complications, and a window into the role of the AP-4 complex in brain development and neurodegeneration.

SUNCT/SUNA and neurovascular compression: New cases and critical literature review

Cephalalgia ◽  
2013 ◽  
Vol 33 (16) ◽  
pp. 1337-1348 ◽  
Author(s):  
Valentina Favoni ◽  
Daniela Grimaldi ◽  
Giulia Pierangeli ◽  
Pietro Cortelli ◽  
Sabina Cevoli
Keyword(s):  
Brain Mri ◽  
Brain Magnetic Resonance Imaging ◽  
Primary Headache ◽  
Neurovascular Compression ◽  
Resonance Imaging ◽  
Mri Findings ◽  
Cranial Autonomic Symptoms ◽  
Magnetic Resonance Imaging Mri ◽  
Critical Literature

Background Short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing (SUNCT) and short-lasting unilateral neuralgiform headache with cranial autonomic symptoms (SUNA) are primary headache syndromes. A growing body of literature has focused on brain magnetic resonance imaging (MRI) evidence of neurovascular compression in these syndromes. Objective The objective of this article is to assess whether SUNCT is a subset of SUNA or whether the two are separate syndromes and clarify the role of neurovascular compression. Method We describe three new SUNCT cases with MRI findings of neurovascular compression and critically review published SUNCT/SUNA cases. Results We identified 222 published SUNCT/SUNA cases. Our three patients with neurovascular compression added to the 34 cases previously described (16.9%). SUNCT and SUNA share the same clinical features and therapeutic options. At present, there is no available abortive treatment for attacks. Lamotrigine was effective in 64% of patients; topiramate and gabapentin in about one-third of cases. Of the 34 cases with neurovascular compression, seven responded to drug therapies, 16 patients underwent microvascular decompression of the trigeminal nerve (MVD) with effectiveness in 75%. Conclusions We suggest that SUNCT and SUNA should be considered clinical phenotypes of the same syndrome. Brain MRI should always be performed with a dedicated view to exclude neurovascular compression. The high percentage of remission after MVD supports the pathogenetic role of neurovascular compression.

Levamisole-Induced Leukoencephalopathy in Russia: Analysis of 30 Cases

2021 ◽  
Vol 17 ◽  
Author(s):  
Zakharova Maria Nikolaevna ◽  
Zakroyshchikova Inessa Vladimirovna ◽  
Kozlova Alexandra Olegovna ◽  
Zabirova Alfiia Hodzhaevna ◽  
Askarova Lola Shavkatovna ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Medication Management ◽  
Brain Mri ◽  
Diagnostic Errors ◽  
Acute Disseminated Encephalomyelitis ◽  
Initial Assessment ◽  
Mri Findings ◽  
Actual Prevalence

Aims: To raise medical specialists’ awareness regarding the severity of possible complications of levamisole administration and demonstrate the role of accurate medical history collection in differential diagnosis. Background: Levamisole, an anthelmintic drug with immunomodulatory effects, has long been used worldwide till early 2000s, when its association with demyelinating leukoencephalopathy was established. However, in the developing countries it is still widely used for prevention and treatment of helminthic invasion in humans. Actual prevalence of levamisole-induced multiple inflammatory leukoencephalopathy (LEV-induced MIL) in Russia remains unknown, and therefore, the study of its frequency and characteristics is indisputably important. Objectives: To determine the clinical features and MRI findings of levamisole-induced MIL in the Russian population and to analyse the frequency of diagnostic errors at the initial assessment. Methods: A single-center retrospective analysis of total 30 patients who were diagnosed with LEV-induced MIL and attended Research Center of Neurology was conducted. Inclusion criteria were 1) clinically: acute or subacute polysymptomatic onset of neurological disturbances, 2) MRI: multifocal demyelinating lesion with no evidence of dissemination in time, 3) anamnestic data: levamisole exposure from 2 to 8 weeks before symptoms onset as well as monophasic disease course (absence of relapses according to follow up assessments up to 3 years). Results: Clinically, presentation with constitutional symptoms, including headache, fever, fatigue and myalgia, focal motor disturbances and dysarthria prevailed in our cohort. On the brain MRI, multiple foci of demyelination with simultaneous gadolinium enhancement were observed. The link between neurological symptoms and levamisole intake has often been detected only during follow-up assessments. Patients were most often misdiagnosed with acute disseminated encephalomyelitis, stroke and multiple sclerosis. In most cases LEV-induced MIL was successfully treated with intravenous corticosteroids and/or plasma exchange (PLEX), however, residual neurologic symptoms preserved in some patients. Additionally, two detailed clinical cases of patients being initially misdiagnosed are presented in the article. Conclusion: The differential diagnosis remains difficult for suspected cases of LEV-induced MIL that could lead to delayed therapy initiation, and consequently incomplete recovery. Growing evidence suggests that a single administration of levamisole even in low doses might potentially lead to severe neurological deficit or death. Therefore, changes in medication management policies are required in order to prevent uncontrolled use of levamisole.

scholarly journals Recurrent Painful Ophthalmoplegic Neuropathy and Oculomotor Nerve Schwannoma: A Pediatric Case Report with Long-Term MRI Follow-Up and Literature Review

2019 ◽  
Vol 2019 ◽  
pp. 1-11 ◽  
Author(s):  
Maria Giuseppina Petruzzelli ◽  
Mariella Margari ◽  
Flora Furente ◽  
Maria Carmela Costanza ◽  
Anna Rosi Legrottaglie ◽  
...  
Keyword(s):  
Cranial Nerve ◽  
Brain Mri ◽  
Oculomotor Nerve ◽  
Childhood Onset ◽  
Mri Findings ◽  
Long Term Follow Up ◽  
Recurrent Painful Ophthalmoplegic Neuropathy

Background. Recurrent painful ophthalmoplegic neuropathy (RPON), previously known as ophthalmoplegic migraine (OM), is an uncommon disorder with repeated episodes of ocular cranial nerve neuropathy associated with ipsilateral headache. The age of presentation is most often during childhood or adolescence. MRI has a central role in the assessment of the RPON, especially to distinguish orbital, parasellar, or posterior fossa lesions that mimic symptoms of RPON. Actually, oculomotor nerve tumors may be masquerade as RPON so that MRI follow-ups are required to detect the possibility of tumor etiology. Case presentation. We report a 16-year-old boy with a 7-year follow-up and multiple brain MRI data, previously diagnosed as OM. The last brain MRI, performed during an acute phase of oculomotor paresis with ipsilateral headache, showed a nodular lesion described as schwannoma of III cranial nerve. Then, we reviewed the literature on OM and RPON in pediatric age with a focus on brain MRI findings. Conclusions. This review highlights the important role of serial brain MRIs in the long-term follow-up of RPON, especially in the cases with childhood onset, in order to not delay the diagnosis of a possible oculomotor nerve schwannoma.

Brain MRI-findings in Ph - negative myeloproliferative disorders

2019 ◽  
Vol 91 (7) ◽  
pp. 29-34 ◽  
Author(s):  
M M Tanashyan ◽  
A L Melikyan ◽  
P I Kuznetsova ◽  
A A Raskurazhev ◽  
A A Shabalina ◽  
...  
Keyword(s):  
Cerebrovascular Disease ◽  
Sinus Thrombosis ◽  
Cerebral Arteries ◽  
Brain Mri ◽  
Myeloproliferative Disorders ◽  
Cerebral Venous Sinus Thrombosis ◽  
Mri Findings ◽  
Cerebral Lesions ◽  
Cerebrovascular Pathology ◽  
Underlying Mechanisms

Myeloproliferative disorders (MPD) are accompanied by a high proportion of thrombotic complications, which may lead to cerebrovascular disease (CVD). Aim. To describe MRI-findings in patients with Ph - negative MPD and evaluate any cerebrovascular disease. Materials and methods. We included 104 patients with Ph - negative MPD (age varied between 20 and 58) with clinical correlates of cerebrovascular pathology. Results. Brain MRI showed post - stroke lesions in 20% of patients (7 hemispheric infarcts due to thrombotic occlusion of one of the large cerebral arteries, 14 - cortical infarcts). 37 patients (36%) had vascular cerebral lesions. Cerebral venous sinus thrombosis occurred in 5 patients - in 7% (n=3) of patients with polycythemia vera and 5% (n=2) - in patients with essential thrombocythemia. The incidence of vascular cerebral lesions was associated with higher levels of the following: erythrocyte, platelet count, fibrinogen, and with the decrease in fibrinolytic activity, as well. Conclusion. The pioneering results of the study include the description and analysis of brain MRI-findings in patients with Ph - negative MPD. The underlying mechanisms of cerebrovascular pathology in these patients are associated with certain blood alterations (particularly, hemorheology) which present a major risk factor.

scholarly journals Comparisons of clinical characteristics, brain MRI findings, and responses to epidural blood patch between spontaneous intracranial hypotension and post-dural puncture headache: retrospective study

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Gha-Hyun Lee ◽  
Jiyoung Kim ◽  
Hyun-Woo Kim ◽  
Jae Wook Cho
Keyword(s):  
Intracranial Hypotension ◽  
Dural Puncture ◽  
Epidural Blood Patch ◽  
Brain Mri ◽  
Spontaneous Intracranial Hypotension ◽  
Vein Of Galen ◽  
Mri Findings ◽  
Post Dural Puncture Headache ◽  
Straight Sinus ◽  
Blood Patch

Abstract Background Spontaneous intracranial hypotension and post-dural puncture headache are both caused by a loss of cerebrospinal fluid but present with different pathogeneses. We compared these two conditions concerning their clinical characteristics, brain imaging findings, and responses to epidural blood patch treatment. Methods We retrospectively reviewed the records of patients with intracranial hypotension admitted to the Neurology ward of the Pusan National University Hospital between January 1, 2011, and December 31, 2019, and collected information regarding age, sex, disease duration, hospital course, headache intensity, time to the appearance of a headache after sitting, associated phenomena (nausea, vomiting, auditory symptoms, dizziness), number of epidural blood patch treatments, and prognosis. The brain MRI signs of intracranial hypotension were recorded, including three qualitative signs (diffuse pachymeningeal enhancement, venous distention of the lateral sinus, subdural fluid collection), and six quantitative signs (pituitary height, suprasellar cistern, prepontine cistern, mamillopontine distance, the midbrain-pons angle, and the angle between the vein of Galen and the straight sinus). Results A total of 105 patients (61 spontaneous intracranial hypotension patients and 44 post-dural puncture headache patients) who met the inclusion criteria were reviewed. More patients with spontaneous intracranial hypotension required epidural blood patch treatment than those with post-dural puncture headache (70.5% (43/61) vs. 45.5% (20/44); p = 0.01) and the spontaneous intracranial hypotension group included a higher proportion of patients who underwent epidural blood patch treatment more than once (37.7% (23/61) vs. 13.6% (6/44); p = 0.007). Brain MRI showed signs of intracranial hypotension in both groups, although the angle between the vein of Galen and the straight sinus was greater in the post-dural puncture headache group (median [95% Confidence Interval]: 85° [68°-79°] vs. 74° [76°-96°], p = 0.02). Conclusions Patients with spontaneous intracranial hypotension received more epidural blood patch treatments and more often needed multiple epidural blood patch treatments. Although both groups showed similar brain MRI findings, the angle between the vein of Galen and the straight sinus differed significantly between the groups.

scholarly journals Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review

2021 ◽  
Vol 22 (8) ◽  
pp. 4202
Author(s):  
Carlotta Spagnoli ◽  
Carlo Fusco ◽  
Antonio Percesepe ◽  
Vincenzo Leuzzi ◽  
Francesco Pisani
Keyword(s):  
Movement Disorders ◽  
Time Course ◽  
Neonatal Period ◽  
Age Of Onset ◽  
Brain Mri ◽  
Neonatal Seizure ◽  
Mri Findings ◽  
Epileptic Encephalopathies ◽  
Pathogenic Variants ◽  
Neonatal Onset

Despite expanding next generation sequencing technologies and increasing clinical interest into complex neurologic phenotypes associating epilepsies and developmental/epileptic encephalopathies (DE/EE) with movement disorders (MD), these monogenic conditions have been less extensively investigated in the neonatal period compared to infancy. We reviewed the medical literature in the study period 2000–2020 to report on monogenic conditions characterized by neonatal onset epilepsy and/or DE/EE and development of an MD, and described their electroclinical, genetic and neuroimaging spectra. In accordance with a PRISMA statement, we created a data collection sheet and a protocol specifying inclusion and exclusion criteria. A total of 28 different genes (from 49 papers) leading to neonatal-onset DE/EE with multiple seizure types, mainly featuring tonic and myoclonic, but also focal motor seizures and a hyperkinetic MD in 89% of conditions, with neonatal onset in 22%, were identified. Neonatal seizure semiology, or MD age of onset, were not always available. The rate of hypokinetic MD was low, and was described from the neonatal period only, with WW domain containing oxidoreductase (WWOX) pathogenic variants. The outcome is characterized by high rates of associated neurodevelopmental disorders and microcephaly. Brain MRI findings are either normal or nonspecific in most conditions, but serial imaging can be necessary in order to detect progressive abnormalities. We found high genetic heterogeneity and low numbers of described patients. Neurological phenotypes are complex, reflecting the involvement of genes necessary for early brain development. Future studies should focus on accurate neonatal epileptic phenotyping, and detailed description of semiology and time-course, of the associated MD, especially for the rarest conditions.

Delayed post-hypoxic leukoencephalopathy: Case report

2017 ◽  
Vol 41 (S1) ◽  
pp. s839-s839 ◽  
Author(s):  
M. Solerdelcoll Arimany ◽  
M. Garriga ◽  
E. Parellada
Keyword(s):  
Neuropsychiatric Symptoms ◽  
Brain Mri ◽  
Clinical History ◽  
Good Prognosis ◽  
Mri Findings ◽  
The Mean ◽  
Competing Interest ◽  
Weighted Sequences ◽  
Direct Toxicity ◽  
Progressive Cognitive Impairment

IntroductionDelayed post-hypoxic leukoencephalopathy (DPHL) is an underrecognized syndrome of delayed demyelination, where patients manifest neuropsychiatric symptoms after a period of 2–40 days of apparent recovery from a cerebral hypo-oxygenation episode.ObjectivesWe report a case of a patient who successfully recovered from an overdose of heroin, but then suffered a delayed abrupt neurological deterioration.AimsTo improve assessment and recognition of DPHL.MethodsAn adequate retrospective collection of clinical data and nonsystematic review of the literature was performed.ResultsA 43-year-old male with schizoaffective disorder who attempted suicide with an overdose of heroin, was successfully revived and return to his previously mental status, but 3 weeks after, he abruptly developed progressive cognitive impairment with akinetic mutism and ataxia. He was admitted to our acute psychiatric unit after brain CT and chemistry analyses were unremarkable. Brain MRI showed diffusely symmetric hyperintensity in the white matter (WM), pronominally the periventricular WM, on FLAIR and T2 weighted sequences. At 16 weeks postoverdose, he presented improvement both cognitive and motor symptoms, lasting deficits in frontal-executive functions.DiscussionDPHL is characterized by similar clinical and neuroimaging features regardless of the initial insult. The mean lucid interval coincides with the replacement half-life for myelin related lipids and proteins. Prolonged mild-to-moderate hypo-oxygenation of WM is thought to disrupt myelin turnover. It appears probable that these were responsible for DPHL in our patient rather than a direct toxicity.ConclusionDPHL can be diagnosed when clinical history, laboratory assessments and MRI findings are concordant. DPHL requires extensive support care and carries a relatively good prognosis.Disclosure of interestThe authors have not supplied their declaration of competing interest.

scholarly journals Postoperative cerebral air embolism with delayed abnormal brain MRI findings

2021 ◽  
Vol 22 ◽  
pp. 100305
Author(s):  
Yuwa Oka ◽  
Koji Tsuzaki ◽  
Mayu Kamei ◽  
Akihiro Kikuya ◽  
Toshiaki Hamano
Keyword(s):  
Brain Mri ◽  
Air Embolism ◽  
Mri Findings ◽  
Cerebral Air Embolism ◽  
Abnormal Brain
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