scholarly journals Central Nervous System Demyelination in a Charcot-Marie-Tooth Type 1A Patient

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Christos Koros ◽  
Maria-Eleftheria Evangelopoulos ◽  
Costas Kilidireas ◽  
Elisabeth Andreadou
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Molecular Mimicry ◽  
Central Nervous System Involvement ◽  
Laboratory Findings ◽  
Charcot Marie Tooth ◽  
Demyelinating Disorder ◽  
History Of ◽  
Tooth Type ◽  
Simultaneous Existence

Introduction. Central nervous system involvement, either clinical or subclinical, has been reported mainly in X-linked Charcot-Marie-Tooth (CMT-X) patients.Case Presentation. We present the case of a 31-year-old man with a genetically confirmed history of CMT1A who developed CNS involvement mimicking multiple sclerosis (MS). Clinical, imaging, and laboratory findings suggested an autoimmune CNS demyelination.Discussion. Although the simultaneous existence of CMT1A and MS could be coincidental we postulate that overexpression of PMP22, the target protein in CMT1A, might influence the immunological self-tolerance to CNS proteins via molecular mimicry, leading to a CNS autoimmune demyelinating disorder.

scholarly journals Acute exudative polymorphous paraneoplastic vitelliform maculopathy (AEPPVM) associated with choroidal melanoma

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Aluisio Rosa Gameiro Filho ◽  
Guilherme Sturzeneker ◽  
Ever Ernesto Caso Rodriguez ◽  
André Maia ◽  
Melina Correia Morales ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Serous Retinal Detachment ◽  
Central Nervous System Involvement ◽  
Choroidal Melanoma ◽  
Posterior Pole ◽  
Pancreatic Metastasis ◽  
Small Areas ◽  
History Of ◽  
The Right

Abstract Background To report a case of acute exudative polymorphous paraneoplastic vitelliform maculopathy in a patient with a history of choroidal melanoma, with metastases to the pancreas, liver, and central nervous system. Case presentation A 63-year-old patient, with a history of enucleation of the right eye due to choroidal melanoma, complained of progressive visual loss during a follow-up visit. Fundoscopic examination revealed multiple small areas of serous retinal detachment scattered throughout the posterior pole and ancillary tests confirmed the diagnosis of acute exudative polymorphous paraneoplastic vitelliform maculopathy (AEPPVM). Screening for systemic metastases showed pancreatic, hepatic, and central nervous system involvement. Conclusions We describe a rare case of acute exudative polymorphous paraneoplastic vitelliform maculopathy, which should be considered in patients with or without a history of melanoma, who have vitelliform retinal detachments. Nevertheless, no previous reviews of literature have shown a correlation between AEPPVM and pancreatic metastasis.

scholarly journals Comparison of clinical features of pulmonary cryptococcosis with and without central nervous system involvement in China

2021 ◽  
Vol 49 (2) ◽  
pp. ???
Author(s):  
Xinying Xue ◽  
Xuelei Zang ◽  
Lifeng Wang ◽  
Dongliang Lin ◽  
Tianjiao Jiang ◽  
...  
Keyword(s):  
Risk Factors ◽  
Central Nervous System ◽  
Nervous System ◽  
Clinical Features ◽  
Central Nervous System Involvement ◽  
Pulmonary Cryptococcosis ◽  
Cns Involvement ◽  
Laboratory Findings ◽  
Logistic Regression Models ◽  
Presenting Symptoms

Objective This study aimed to compare the clinical features of pulmonary cryptococcosis (PC) in patients with and without central nervous system (CNS) involvement. Methods We retrospectively reviewed demographics, presenting symptoms, radiographic features, and laboratory findings of patients diagnosed with PC in 28 hospitals from 2010 to 2019. Risk factors for CNS involvement were analyzed using logistic regression models. Result A total of 440 patients were included, and 36 (8.2%) had CNS involvement. Significant differences in fever, headache, and chills occurred between the two groups (overall and with/without CNS involvement) for fever (17.8% [78/440]; 52.8% vs. 14.6% of patients, respectively), headache (4.5% [20/440]; 55.6% vs. 0% of patients, respectively), and chills (4.3% [19/440]; 13.9% vs. 3.5% of patients, respectively). The common imaging manifestation was nodules (66.4%). Multivariate analysis showed that cavitation (adjusted odds ratio [AOR] = 3.552), fever (AOR = 4.182), and headache were risk factors for CNS involvement. Routine blood tests showed no differences between the groups, whereas in cerebrospinal fluid the white blood cell count increased significantly and glucose decreased significantly. Conclusion In patients with PC, the risk of CNS involvement increases in patients with headache, fever, and cavitation; these unique clinical features may be helpful in the diagnosis.

Central nervous system involvement in axonal Charcot-Marie-Tooth disease

2009 ◽  
Vol 41 (1) ◽  
pp. 148-150
Author(s):  
Xinli Du ◽  
G. Frederick Wooten ◽  
Julie A. Matsumoto ◽  
Lawrence H. Phillips
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Central Nervous System Involvement ◽  
Charcot Marie Tooth ◽  
System Involvement ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals Towards Central Nervous System Involvement in Adults with Hereditary Myopathies

2020 ◽  
Vol 7 (4) ◽  
pp. 367-393
Author(s):  
Jens Reimann ◽  
Cornelia Kornblum
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Neuromuscular Disorders ◽  
Clinical Manifestations ◽  
Specific Treatment ◽  
Central Nervous System Involvement ◽  
Epileptic Seizures ◽  
System Involvement ◽  
History Of ◽  
Neuroimaging Techniques

There is increasing evidence of central nervous system involvement in numerous neuromuscular disorders primarily considered diseases of skeletal muscle. Our knowledge on cerebral affection in myopathies is expanding continuously due to a better understanding of the genetic background and underlying pathophysiological mechanisms. Intriguingly, there is a remarkable overlap of brain pathology in muscular diseases with pathomechanisms involved in neurodegenerative or neurodevelopmental disorders. A rapid progress in advanced neuroimaging techniques results in further detailed insight into structural and functional cerebral abnormalities. The spectrum of clinical manifestations is broad and includes movement disorders, neurovascular complications, paroxysmal neurological symptoms like migraine and epileptic seizures, but also behavioural abnormalities and cognitive dysfunction. Cerebral involvement implies a high socio-economic and personal burden in adult patients sometimes exceeding the everyday challenges associated with muscle weakness. It is especially important to clarify the nature and natural history of brain affection against the background of upcoming specific treatment regimen in hereditary myopathies that should address the brain as a secondary target. This review aims to highlight the character and extent of central nervous system involvement in patients with hereditary myopathies manifesting in adulthood, however also includes some childhood-onset diseases with brain abnormalities that transfer into adult neurological care.

NDRG1-linked Charcot-Marie-Tooth disease (CMT4D) with central nervous system involvement

2007 ◽  
Vol 17 (2) ◽  
pp. 163-168 ◽  
Author(s):  
Andoni Echaniz-Laguna ◽  
Bertrand Degos ◽  
Céline Bonnet ◽  
Philippe Latour ◽  
Tarik Hamadouche ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Central Nervous System Involvement ◽  
Charcot Marie Tooth ◽  
System Involvement ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals Recurrent episodes of reversible posterior leukoencephalopathy in three Chinese families with GJB1 mutations in X-linked Charcot-Marie-tooth type 1 disease： cases report

2019 ◽  
Author(s):  
Youlong Liang ◽  
Jingli Liu ◽  
Daobin Cheng ◽  
Yu Wu ◽  
Liuhong Mo ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Peripheral Neuropathy ◽  
Unique Feature ◽  
Southern China ◽  
Central Nervous System Involvement ◽  
Charcot Marie Tooth ◽  
Reversible Posterior Leukoencephalopathy ◽  
Posterior Leukoencephalopathy

Abstract Background The X-linked form of Charcot-Marie-Tooth disease type 1(CMTX1) is an inherited peripheral neuropathy that arises in patients with mutations in the gap-junction beta-1 gene (GJB1). Case presentation Three young male patients from Southern China with pes cavus experienced multiple episodes of transient central nervous system (CNS) dysfunction. Three patients all had reversible posterior leukoencephalopathy as detected by brain diffusion-weighted magnetic resonance imaging (MRI-DWI). Nerve conduction velocity (NCV) showed sensorimotor polyneuropathy with mixed demyelinating and axonal features. Genetic testing indicated a c.425G>A (p. Arg 142 Glu) or c.563 C>T (p. Thr 188 Ile) or c.103G>C (p. Val 35 Leu) mutation in GJB1. The unique feature of this report is two novel mutations: c.563 C>T and sc.103G>C of GJB1 gene detected in two families respectively. Another unique feature is that peripheral neuropathy symptoms in three patients were insidious and found at the onset of CNS symptoms Conclusions Central nervous system involvement in patients with CMTX1 indicates that myelin damage in the CNS and peripheral nerve system may have similar pathogenetic mechanisms.

Recurrent central nervous system white matter changes in charcot-Marie-Tooth type X disease

2014 ◽  
Vol 49 (3) ◽  
pp. 451-454 ◽  
Author(s):  
Jennifer L. Mckinney ◽  
Emily C. De Los Reyes ◽  
Warren D. Lo ◽  
Kevin M. Flanigan
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
White Matter ◽  
White Matter Changes ◽  
Charcot Marie Tooth ◽  
Tooth Type

scholarly journals Recurrent episodes of reversible posterior leukoencephalopathy in three Chinese families with GJB1 mutations in X-linked Charcot-Marie-tooth type 1 disease: case reports

2019 ◽  
Author(s):  
Youlong Liang ◽  
Jingli Liu ◽  
Yu Wu ◽  
Daobin Cheng ◽  
Liuhong Mo ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Peripheral Neuropathy ◽  
Unique Feature ◽  
Central Nervous System Involvement ◽  
Charcot Marie Tooth ◽  
Reversible Posterior Leukoencephalopathy ◽  
Posterior Leukoencephalopathy ◽  
Disease Case

Abstract Background The X-linked form of Charcot-Marie-Tooth disease type 1(CMTX1) is an inherited peripheral neuropathy that arises in patients with mutations in the gap-junction beta-1 gene (GJB1). Case presentation Three young male patients from Southern China with pes cavus experienced multiple episodes of transient central nervous system (CNS) dysfunction. Three patients all had reversible posterior leukoencephalopathy as detected by brain diffusion-weighted magnetic resonance imaging (MRI-DWI). Nerve conduction velocity (NCV) showed sensorimotor polyneuropathy with mixed demyelinating and axonal features. Genetic testing indicated a c.425G>A (p. Arg 142 Glu) or c.563 C>T (p. Thr 188 Ile) or c.103G>C (p. Val 35 Leu) mutation in GJB1. The unique feature of this report is two novel mutations: c.563 C>T and sc.103G>C of GJB1 gene detected in two families respectively. Another unique feature is that peripheral neuropathy symptoms in three patients were insidious and found at the onset of CNS symptoms Conclusions Central nervous system involvement in patients with CMTX1 indicates that myelin damage in the CNS and peripheral nerve system may have similar pathogenetic mechanisms.

scholarly journals Surgical Resection of Isolated Intramedullary Neurocysticercosis

2018 ◽  
Vol 26 (3) ◽  
pp. 223-226
Author(s):  
Leonardo Gilmone Ruschel ◽  
Kristel Back Merida ◽  
Guilherme José Agnoletto ◽  
Guilherme Augusto de Souza Machado ◽  
Felipe Andrés Constanzo Navarrete ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Taenia Solium ◽  
Central Nervous System Involvement ◽  
Underdeveloped Countries ◽  
Perilesional Edema ◽  
Intracranial Involvement ◽  
History Of ◽  
The Central Nervous System ◽  
Magnetic Resonance Imaging Mri

Introduction: Neurocysticercosis is a parasitic disease caused by the cysticerci of Taenia solium. Central nervous system involvement is endemic in underdeveloped countries and intracranial involvement is the most common presentation. Isolated spinal cord involvement is quite rare and definitive diagnosis in most cases is obtained by anatomopathological evaluation. Case Report: 58 year-old female, from Nicaragua, with a 3-year history of dysesthesia and allodynia on right T5 dermatome, with thoracic spine magnetic resonance imaging (MRI) revealing an intramedullary cystic lesion at the level of T4 and T5 vertebrae with perilesional edema. MRI of the rest of the central nervous system was unremarkable. After initial empirical treatment with intravenous methylprednisolone without clinical or radiological improvement, surgical exploration was proposed, confirming the diagnosis of neurocysticercosis. Conclusion: Diagnosing spinal cysticercosis represents a challenge and should to be considered in patients with intramedullary cystic lesions in endemic areas.

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