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 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.

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):  
Peripheral Neuropathy ◽  
Unique Feature ◽  
Southern China ◽  
Young Male ◽  
Charcot Marie Tooth ◽  
Sensorimotor Polyneuropathy ◽  
Charcot Marie Tooth Disease ◽  
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.Arg142Glu) or c.563 C>T (p.Thr188Ile) or c.103G>C (p.Val35Leu) mutation in GJB1. The unique feature of this report is the identification of two novel mutations: c.563 C>T and sc.103G>C of the GJB1 gene detected in two families respectively. Another unique feature is that peripheral neuropathy symptoms in the three patients were insidious and found at the onset of CNS symptoms. Conclusions Posterior leukoencephalopathy is involved in CMTX1 patients. The white matter changes in MRI of CMTX1 patients are reversible and recover later than CNS symptoms.

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

BMC Neurology ◽  
2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Youlong Liang ◽  
Jingli Liu ◽  
Daobin Cheng ◽  
Yu Wu ◽  
Liuhong Mo ◽  
...  
Keyword(s):  
Peripheral Neuropathy ◽  
Unique Feature ◽  
Southern China ◽  
Young Male ◽  
Charcot Marie Tooth ◽  
Sensorimotor Polyneuropathy ◽  
Charcot Marie Tooth Disease ◽  
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.Arg142Glu) or c.563 C > T (p.Thr188Ile) or c.103G > C (p.Val35Leu) mutation in GJB1. The unique feature of this report is the identification of two novel mutations: c.563 C > T and sc.103G > C of the GJB1 gene detected in two families respectively. Another unique feature is that peripheral neuropathy symptoms in the three patients were insidious and found at the onset of CNS symptoms. Conclusions Posterior leukoencephalopathy is involved in CMTX1 patients. The white matter changes in MRI of CMTX1 patients are reversible and recover later than CNS symptoms.

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

Successful Intravenous Immunoglobulin Treatment of Atypical Lichen Myxedematosus Associated with Hypothyroidism and Central Nervous System Involvement: Case Report and Discussion of the Literature

2013 ◽  
Vol 17 (1) ◽  
pp. 69-73 ◽  
Author(s):  
Magnus Macnab ◽  
Patrick Kenny
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Intravenous Immunoglobulin ◽  
Thyroid Dysfunction ◽  
Central Nervous System Involvement ◽  
Response To Treatment ◽  
Ivig Treatment ◽  
Systemic Complications ◽  
Disease Case ◽  
Lichen Myxedematosus

Background: Lichen myxedematosus (LM) is a rare idiopathic disorder characterized by papules, plaques, and/or nodules in the skin secondary to mucin deposition and variable dermal fibrosis in the absence of thyroid disease. Case reports are the predominant literature on LM due to its rarity, and the data are limited regarding the disease. No standard treatment regimen exists, and the response to treatment varies. Objective: This report adds to the limited literature on atypical LM associated with thyroid dysfunction and contributes to the growing body of evidence supporting intravenous immunoglobulin (IVIg) as effective therapy for extensive cases. Methods and Results: We report an unusual case of atypical LM associated with hypothyroidism, central nervous system (CNS) disturbances, and atrial fibrillation in a 64-year-old male. The patient experienced remarkable improvement within 3 months of beginning IVIg treatment; however, he required repeat therapy due to the recurrence of CNS symptoms 3 months after treatment. Conclusion: We agree with previous authors that thyroid dysfunction alone should not preclude a diagnosis of LM. Additionally, we contribute to the increasing evidence of IVIg being an effective treatment, particularly in the setting of systemic complications or acute worsening of LM.

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 Hodgkin's Disease-Related Central Nervous System Angiopathy Presenting as Reversible Posterior Leukoencephalopathy

2004 ◽  
Vol 43 (10) ◽  
pp. 1005-1007 ◽  
Author(s):  
Yusei MIYAZAKI ◽  
Yasutaka TAJIMA ◽  
Kazumasa SUDO ◽  
Akihisa MATSUMOTO ◽  
Jun TASHIRO ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Hodgkin's Disease ◽  
Hodgkin’S Disease ◽  
Reversible Posterior Leukoencephalopathy ◽  
Posterior Leukoencephalopathy

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.

Sign in / Sign up

Export Citation Format

Share Document