Spectrum of Clinical, Neuroimaging, and Cerebrospinal Fluid Features of Adult Neurocutaneous Melanocytosis

2018 ◽  
Vol 80 (1-2) ◽  
pp. 1-6 ◽  
Author(s):  
Min Qian ◽  
Haitao Ren ◽  
Tao Qu ◽  
Zhaohui Lu ◽  
Yueli Zou ◽  
...  

Background: Neurocutaneous melanocytosis (NCM) is a poorly understood disease due to its rarity. This study aimed to summarize the characteristics of adult NCM and improve the awareness of this disease. Methods: The clinical data of 13 adult patients with NCM were retrospectively reviewed, including neuroimages, cerebrospinal fluid (CSF), and histological features. Results: There were 9 males and 4 females. The mean age at symptom onset was 36.5 years. The initial symptoms included intracranial hypertension in 8 patients and seizure in 4 patients. Ten patients had large and/or multiple congenital melanocytic nevi. MRI revealed hydrocephalus and diffuse thickening of the leptomeninges with T1 shortening in all patients. Post-contrast T1-weighted images showed diffuse linear enhancement of the leptomeninges. Lumbar punctures showed increased open pressure, and elevated protein levels and decreased glucose concentrations in CSF. Cells with intracytoplasmic coarse black granules were found in the CSF and were positive for S100, HMB45, and vimentin. Histopathology of the cutaneous lesions and meninges showed melanocytes but no evidence of malignant melanoma. Conclusion: Adult NCM patients present a diversity of clinical manifestations. Brain MRI showing diffuse thickening of the leptomeninges with T1 shortening is useful in diagnosing NCM. Heterocellular melanin may be of great value for early diagnosis of NCM in challenging cases.

2019 ◽  
Author(s):  
Yake Zheng ◽  
Peng Zhao ◽  
yajun lian ◽  
Lihao Li ◽  
Yuan Chen ◽  
...  

Abstract Background We set out to investigate the characteristics and factors related to non-inflammation cerebrospinal fluid (CSF) and normal brain magnetic resonance images (MRI) of autoimmune encephalitis (AE) in patients. Methods The distribution and characteristics of brain MRI and CSF in 124 patients who were living with anti-NMDAR(71), LGI1(26),CASPR2(4),GABAR(23) encephalitis and who had been admitted between October 2016 and May 2018 were analyzed prospectively. Results 12 of the 124 patients(1%) had a normal MRI and non-inflammation CSF.Ten of them were LGI1(83%),while the remaining 1 patient was NMDAR(8.3%),1 patient was CASPR2(8.3%).The clinical symptoms including epilepsy, psychosis, cognitive disorders, conscious disorders, headache, faciobrachial dystonic seizure (FBDS), speech disorders and hypoventilation. AE with non-inflammation CSF and normal MRI with good clinical prognosis. The median modified Rankin Scale (mRS) was low, and recurrence rate was also low. Conclusion The clinical manifestations of on-inflammation CSF and brain MRI-negative patients with AE are not specific, but suggest a better prognosis and a lower recurrence rates.


2014 ◽  
Vol 3 (2) ◽  
pp. 120-122
Author(s):  
Peyman Petramfar ◽  
Alireza Nikseresht ◽  
Maryam Sharifian ◽  
Mohammadali Davarpanah ◽  
Masoud Nemovi ◽  
...  

Background: Neurobrucellosis is a rare complication of brucellosis. Acute meningitis and encephalitis are the most common clinical manifestations; however, symptoms of these two conditions may be subacute and diagnosis requires a high index of suspicion in patients from endemic areas. Diagnosis is often based on neurological symptoms, serology, and suggestive brain imaging because cerebrospinal fluid culture yields are low.Case report: Herein we report a 30 year old  female a known case of MS (Multiple Sclerosis) who presented  with ataxia and agitation, in physical examination the patient  had ataxic gait and decreased concentration, Brain MRI showed significant brain atrophy and hydrocephaly. Laboratory workups showed a lymph dominant leukocytosis. ESR and CRP rose significantly. CSF (Cerebrospinal fluid) was obtained and sent for cell count and chemistry analysis. The CSF analysis showed 1734 mg/dl protein, 254 leukocytes (80% lymphocyte). Complete blood count (CBC) showed lymph dominant leukocytosis. Wright test in CSF was positive. Accordingly Neurobrucellosis was considered as the cause.Conclusion: Due to several of immunomodulating or immunosuppressive treatments in the patients with MS, and Chronic suppression of cell-mediated immunity these patients may be more prone to infections. So in such patients careful evaluation of clinical findings are of great importance.


2021 ◽  
Vol 9 ◽  
Author(s):  
Yu-Ting Pan ◽  
Li-Ming Cao ◽  
Yan Xu ◽  
Zhi-Dan Fan ◽  
Hai-Guo Yu

Background: Kikuchi-Fujimoto disease (KFD) is a benign and self-limiting disease characterized by regional lymphadenitis and low-grade fever. Encephalopathy may present in children with KFD. We present three cases of KFD with encephalopathy in children and a literature review.Methods: Literature published between 2010 and 2020 was reviewed to understand the clinical features, laboratory findings, and treatments for encephalopathy occurring in children with KFD.Results: The interval between KFD and onset of neurological symptoms was 10 days to 3 months. Laboratory results were normal, except for high protein levels in cerebrospinal fluid findings. Brain magnetic resonance imaging (MRI) findings include hyperintense T2 and FLAIR signal in the supratentorial white matter, deep gray matter, brain stem, cerebellum, temporal lobes, pons, and basal ganglia. Glucocorticoids and immunoglobulin could be effective for treating KFD with encephalopathy.Conclusion: The early clinical manifestations of KFD with encephalopathy in children lack specificity, and the diagnosis is mainly based on CSF analysis and brain MRI findings. Early and timely immunomodulatory therapy is effective and can improve the prognosis of patients with KFD with encephalopathy.


Case reports ◽  
2020 ◽  
Vol 6 (2) ◽  
pp. 146-155
Author(s):  
Laura Estefanía Arenas-Vargas ◽  
Ruben Darío Arenas-Diaz ◽  
Enrique Hernandez-Rojas ◽  
Fabián Riaño-Montañez

Introduction: Seizures related to metabolic disorders are common phenomena in many clinical contexts. However, clinical manifestations and neuroimaging findings in the context of a hyperglycemic crisis are less frequent phenomena with unclear pathophysiology.Case report: A 68-year-old man presented focal seizures and right homonymous hemianopsia after a non-ketotic hyperglycemic crisis. Brain MRI showed cortical diffusion restriction and subcortical T2 / FLAIR hypointensity in left occipital, temporal (mesial) and parietal lobes. Spectroscopy was performed showing a nonspecific pattern, cerebrospinal fluid was normal and there was improvement with glycemic control. MRI findings were considered secondary to the hyperglycemic crisis.Conclusion: Non-ketotic hyperglycemic states can manifest with several rare neurological alterations and recognizing them early is of vital importance given their potential reversibility. As in other metabolic disorders, epileptic seizures in this context can have focal-type characteristics. Although pathophysiological mechanisms are not clearly elucidated yet, multiple neuroimaging techniques promise to establish patterns that allow accurate and timely diagnosis.


2020 ◽  
Vol 12 (3) ◽  
pp. 433-439
Author(s):  
Riwaj Bhagat ◽  
Siddharth Narayanan ◽  
Marwa Elnazeir ◽  
Thong Diep Pham ◽  
Robert Paul Friedland ◽  
...  

Gasperini syndrome (GS), a rare brainstem syndrome, is featured by ipsilateral cranial nerves (CN) V–VIII dysfunction with contralateral hemibody hypoesthesia. While there have been 18 reported cases, the GS definition remains ambiguous. We report a new case and reviewed the clinical features of this syndrome from all published reports to propose a new definition. A 57-year-old man with acute brainstem stroke had right CN V–VIII and XII palsies, left body hypoesthesia and ataxia. Brain MRI showed an acute stroke in the right caudal pons and bilateral cerebellum. After a systematic review, we classified the clinical manifestations into core and associate features based on the frequencies of occurring neurological deficits. We propose that a definitive GS requires the presence of ipsilateral CN VI and VII palsies, plus one or more of the other three core features (ipsilateral CN V, VIII palsies and contralateral hemibody hemihypalgesia). Additionally, GS, similar to Wallenberg’s syndrome, represents a spectrum that can have other associated neurological features. The revised definition presented in this study may enlighten physicians with the immediate recognition of the syndrome and help improve clinical localization of the lesions and its management.


2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Ashley A. Krull ◽  
Deborah O. Setter ◽  
Tania F. Gendron ◽  
Sybil C. L. Hrstka ◽  
Michael J. Polzin ◽  
...  

Abstract Background Mesenchymal stromal cells (MSCs) have been studied with increasing intensity as clinicians and researchers strive to understand the ability of MSCs to modulate disease progression and promote tissue regeneration. As MSCs are used for diverse applications, it is important to appreciate how specific physiological environments may stimulate changes that alter the phenotype of the cells. One need for neuroregenerative applications is to characterize the spectrum of MSC responses to the cerebrospinal fluid (CSF) environment after their injection into the intrathecal space. Mechanistic understanding of cellular biology in response to the CSF environment may predict the ability of MSCs to promote injury repair or provide neuroprotection in neurodegenerative diseases. Methods In this study, we characterized changes in morphology, metabolism, and gene expression occurring in human adipose-derived MSCs cultured in human (hCSF) or artificial CSF (aCSF) as well as examined relevant protein levels in the CSF of subjects treated with MSCs for amyotrophic lateral sclerosis (ALS). Results Our results demonstrated that, under intrathecal-like conditions, MSCs retained their morphology, though they became quiescent. Large-scale transcriptomic analysis of MSCs revealed a distinct gene expression profile for cells cultured in aCSF. The aCSF culture environment induced expression of genes related to angiogenesis and immunomodulation. In addition, MSCs in aCSF expressed genes encoding nutritional growth factors to expression levels at or above those of control cells. Furthermore, we observed a dose-dependent increase in growth factors and immunomodulatory cytokines in CSF from subjects with ALS treated intrathecally with autologous MSCs. Conclusions Overall, our results suggest that MSCs injected into the intrathecal space in ongoing clinical trials remain viable and may provide a therapeutic benefit to patients.


2021 ◽  
Vol 18 (1) ◽  
Author(s):  
Carolyn A. Harris ◽  
Diego M. Morales ◽  
Rooshan Arshad ◽  
James P. McAllister ◽  
David D. Limbrick

Abstract Background Approximately 30% of cerebrospinal fluid (CSF) shunt systems for hydrocephalus fail within the first year and 98% of all patients will have shunt failure in their lifetime. Obstruction remains the most common reason for shunt failure. Previous evidence suggests elevated pro-inflammatory cytokines in CSF are associated with worsening clinical outcomes in neuroinflammatory diseases. The aim of this study was to determine whether cytokines and matrix metalloproteinases (MMPs) contribute towards shunt failure in hydrocephalus. Methods Using multiplex ELISA, this study examined shunt failure through the CSF protein concentration profiles of select pro-inflammatory and anti-inflammatory cytokines, as well as select MMPs. Interdependencies such as the past number of previous revisions, length of time implanted, patient age, and obstruction or non-obstruction revision were examined. The pro-inflammatory cytokines were IL-1β, IL-2, IL-5, IL-6, IL-8, IL-12, IL-17, TNF-α, GM-CSF, IFN-γ. The anti-inflammatory cytokines were IL-4 and IL-10, and the MMPs were MMP-2, MMP-3, MMP-7, MMP-9. Protein concentration is reported as pg/mL for each analyte. Results Patient CSF was obtained at the time of shunt revision operation; all pediatric (< 18), totaling n = 38. IL-10, IL-6, IL-8 and MMP-7 demonstrated significantly increased concentrations in patient CSF for the non-obstructed subgroup. Etiological examination revealed IL-6 was increased in both obstructed and non-obstructed cases for PHH and congenital hydrocephalic patients, while IL-8 was higher only in PHH patients. In terms of number of past revisions, IL-10, IL-6, IL-8, MMP-7 and MMP-9 progressively increased from zero to two past revisions and then remained low for subsequent revisions. This presentation was notably absent in the obstruction subgroup. Shunts implanted for three months or less showed significantly increased concentrations of IL-6, IL-8, and MMP-7 in the obstruction subgroup. Lastly, only patients aged six months or less presented with significantly increased concentration of IL-8 and MMP-7. Conclusion Non-obstructive cases are reported here to accompany significantly higher CSF cytokine and MMP protein levels compared to obstructive cases for IL-10, IL-6, IL-8, MMP-7 and MMP-9. A closer examination of the definition of obstruction and the role neuroinflammation plays in creating shunt obstruction in hydrocephalic patients is suggested.


2020 ◽  
Vol 33 (6) ◽  
pp. 793-802 ◽  
Author(s):  
Weijing Kong ◽  
Yan Meng ◽  
Liping Zou ◽  
Guang Yang ◽  
Jing Wang ◽  
...  

AbstractObjectivesSanfilippo syndrome (Mucopolysaccharidosis III, MPS III) is a rare autosomal recessive hereditary disease, which is caused by lysosomal enzyme deficiency. This study was operated to investigate clinical and molecular characteristics of patients with MPS III, which will improve the diagnosis and treatment of MPS III.MethodThirty four patients with MPS III were assessed using clinical evaluation, questionnaire, and scoring system.ResultsAmong the 34 patients, 14 had MPS IIIA, 19 had MPS III B, and one had MPS III C. Speech delay (100%) and intellectual disability (100%) were the most prevalent clinical manifestations in this cohort, followed by hyperactivity (94.12%), hirsutism (91.18%), enlarged head circumference (73.52%), repeated diarrhea (67.64%), sparse teeth (67.64%), and Mongolian spots (64.71%). There were two clinical manifestations that were significantly different between IIIA and IIIB: Hepatosplenomegaly and serrated teeth. The most common initial symptoms at diagnosis were speech delay (52.94%), hyperactivity (35.29%), and mental retardation (29.41%). Genetic analysis of 25 patients was conducted, which identified 12 novel mutations.ConclusionWhen language retardation, mental retardation, and rough facial features occurred, MPS III should be considered. At same time, more examination should be operated, such as examination of changes in cranial magnetic resonance imaging of cerebral cortex atrophy. Hepatosplenomegaly and serrated teeth could be used clinically to preliminarily distinguish IIIA from IIIB.


2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1284.1-1285
Author(s):  
A. S. Lundberg ◽  
B. A. Esbensen ◽  
E. M. Hauge ◽  
A. De Thurah

Background:Early treatment, before three months from symptom onset of rheumatoid arthritis (RA), is essential to increase the likelihood of remission and to prevent permanent joint damage (1). However, it has been shown that only 20% of the patients are seen within the first three months, and the median delay in general practice has been estimated to 4 months (range 2–9) (2).Objectives:To explore the barriers in diagnosing RA from the general practitioners’ (GPs) perspective.Methods:We conducted a qualitative study based on focus group interviews. We recorded the interviews digitally and transcribed verbatim. The transcribed interviews were analyzed based on content analysis (3), by using Nivo 12. Sample size was determined by thematic saturation.Results:In total ten GPs participated in three different focus groups. 40 % were female, mean age was 53 years (range 37-64), and mean year since specialist authorization as GP was 16 years (range 5-23). 60 % of the GPs worked in a practice located within the referral area of a university hospital; the remaining within the referral area of a regional hospital.Four themes emerged in the analysis: 1) When the patient is not a text book example, referring to the difficulty of identifying relevant symptoms among all clinical manifestations from the joints as described by the patients, 2)The importance of maintaining the gatekeeper function, referring to the societal perspective, and the GPs responsibility to refer the right patients to secondary care, 3)Difficulties in referral of patients to the rheumatologist,referring to perceived differences in the collaboration with rheumatologists. The GPs experienced that it was sometimes difficult to be assisted by rheumatologists, especially when the clinical picture was not ‘clear cut’. Finally, (4)Para-clinical testing, can it be trusted?referring to challenges on the evaluation of especially biomarkers.The overarching theme was:Like finding a needle in a haystack, covering the GPs difficulties in detecting RA among the many patients in general practice who appear to be well and at the same time have symptoms very similar to RA.Conclusion:The GPs experienced that RA was a difficult diagnosis to make. The immediate challenge was that RA patient’s initial symptoms often resembled those of more common and less serious conditions, and that investigative findings such as biomarkers can be negative at the early state of the disease. At the same time, the collaboration with rheumatologists was sometimes seen as a hurdle, when the clinical picture was not ‘clear cut’.In order to facilitate earlier diagnosis of RA in general practice, the GPs and rheumatologists need to focus on these barriers by strengthening mutual information and collaboration.Physicians should remain vigilant to patients who have conditions that do not resolve as expected with treatment, who have symptoms that persist, or who do not look well despite negative investigative findings.References:[1]Aletaha D, et al. JAMA, Oct 2018.[2]Kiely P, et al. Rheumatology, Jan 2009.[3]Braun V. Qualitative research in psychology. 2006, 3(2), 77-101Disclosure of Interests:Anne Sofie Lundberg: None declared, Bente Appel Esbensen: None declared, Ellen-Margrethe Hauge Speakers bureau: Fees for speaking/consulting: MSD, AbbVie, UCB and Sobi; research funding to Aarhus University Hospital: Roche and Novartis (not related to the submitted work)., Annette de Thurah Grant/research support from: Novartis (not relevant for the present study)., Speakers bureau: Lily (not relevant for the present study).


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