Unmasking a Case of Asymptomatic Charcot-Marie-Tooth Disease (CMT1A) With Vincristine

Jariwal, Roopam; Shoua, Basel; Sabetian, Katayoun; Natarajan, Preethi; Cobos, Everardo

doi:10.1177/2324709618758349

Cited by 7 publications

(6 citation statements)

References 16 publications

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“…Since the reported clinical features in most patients are not typical for vincristine‐induced peripheral neurotoxicity in children or adults, an alternative diagnosis (e.g., Guillain–Barrè syndrome [GBS]) search would have been mandatory, although made more difficult by the occasional presence of hyperproteinorrachia in CMT patients 48,49 and the pre‐existing neurophysiological changes. However, other possible explanations for the unexpected course in these patients were searched for in a minority of cases; for instance, approximately one‐third of the reported cases underwent cerebrospinal fluid examination: in one case without genetic description, elevated levels of albumin with normal cell count were reported, 15 while in one CMT1A patient, nerve conduction studies were consistent with severe acute sensorimotor axonal and demyelinating damage superimposed on chronic polyneuropathy 17 . A definite diagnosis could not be achieved in the patient reported by Moudgil et al, 21 but the authors suggested GBS was the most consistent hypothesis.…”

Section: Resultsmentioning

confidence: 99%

Toxic medications in Charcot–Marie–Tooth patients: A systematic review

Cavaletti

Forsey

Alberti

2023

J Peripheral Nervous Sys

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Background and AimsSeveral widely used medications, with a relevant efficacy profile, are toxic to the peripheral nervous system and an even larger number of agents are suspected to be neurotoxic. There are concerns about the use of these drugs in patients with Charcot–Marie–Tooth disease (CMT), a hereditary motor and sensory neuropathy. This review provides evidence‐based updated recommendations on this clinically relevant topic.MethodsA systematic review of the available studies/reports written in English was performed from July to September 2022 including in the search string all reported putative neurotoxic drugs.ResultsThe results of our systematic review provide evidence‐based support for the statement that use of vincristine, and possibly paclitaxel, can occasionally induce an atypical, and more severe, course of drug‐related peripheral neurotoxicity in CMT patients. It is therefore reasonable to recommend caution in the use of these compounds in CMT patients. However, no convincing evidence for a similar recommendation could be found for all other drugs.InterpretationIt is important that patients with CMT are not denied effective treatments that may prolong life expectancy for cancer or improve their health status if affected by non‐oncological diseases. Accurate monitoring of peripheral nerve function in CMT patients treated with any neurotoxic agent remains mandatory to detect the earliest signs of neuropathy worsening and atypical clinical courses. Neurologists monitoring CMT patients as part of their normal care package or for natural history studies should keep detailed records of exposures to neurotoxic medications and support reporting of accelerated neuropathy progression if observed.

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Section: Resultsmentioning

confidence: 99%

Toxic medications in Charcot–Marie–Tooth patients: A systematic review

Cavaletti

Forsey

Alberti

2023

J Peripheral Nervous Sys

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“…Furthermore, because almost all CMT1A patients develop symptoms in childhood and adolescence, even if they are unaware of them, it is important to be conscious of the existence of a considerable number of undiagnosed adult patients. Early diagnosis may help to ensure the appropriateness of care including physical therapy (23) and avoid CMT-specific adverse events resulting from medications for other diseases (6)(7)(8)(24)(25)(26).…”

Section: Discussionmentioning

confidence: 99%

“…The disease onset is usually in the first or second decade of life ( 5 ); however, not all patients are diagnosed in childhood. Indeed, there have been several reports of undiagnosed adult CMT patients found to have the disease after the exacerbation of neurological symptoms due to medications ( 6 – 8 ). It was reported that such patients had, in retrospect, shown overt CMT-related features before receiving medications.…”

Section: Introductionmentioning

confidence: 99%

Rate of Changes in CMT Neuropathy and Examination Scores in Japanese Adult CMT1A Patients

et al. 2020

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Introduction: We aimed to clarify when adult patients with Charcot-Marie-Tooth disease type 1A (CMT1A), especially those diagnosed at middle or advanced ages, first showed symptoms and whether the rate of disease progression is accelerated by aging. Methods: Medical records of CMT1A outpatients between 2012 and 2019 were reviewed. The age at diagnosis, age when symptoms first appeared, and rate of disease progression, assessed based on clinical outcome measures including the CMT Neuropathy Score (CMTNS), Rasch-modified CMTNS (CMTNS-R), CMT Examination Score (CMTES), and Rasch-modified CMTES (CMTES-R) were analyzed. Results: Among 45 adult CMT1A patients, 42% had been diagnosed after 50 years of age, whereas 91% of all patients had exhibited some CMT-related symptoms before 20 years of age. The annual increase of all clinical outcome measures did not differ between patients under and over 50 years. Even when limited to patients whose initial CMTES-R showed mild to moderate severity, the rate of change in CMTES-R did not differ between the two age groups (the annual mean ± standard deviation, under 50 years: 1.1 ± 1.0, and over 50 years: 0.9 ± 1.1, p = 0.68). To determine whether patients with disabilities at a young age have a higher deterioration rate, they were classified into three groups according to their current age and age at diagnosis: patients under 50 years of age, patients over 50 years of age but diagnosed before 50, and patients diagnosed after 50 years of age. The mean annual increase of all clinical outcome measures, however, did not differ among these groups (CMTES-R: 1.03 ± 1.01 vs. 0.94 ± 1.57 vs. 0.81 ± 0.88, respectively, p = 0.87). Discussion: CMT1A patients develop symptoms in childhood and adolescence even if such symptoms are not noticeable until reaching an advanced age. Deterioration rates of clinical outcome measures are constant irrespective of the age in their adulthood, although we cannot rule out the limitation that the difference did not reach significance because of the small number of patients. Being aware of the existence of a considerable number of undiagnosed CMT patients will help promote the avoidance of inadequate medication.

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“…Differential diagnosis between vinca alkaloid neurotoxicity and acute inflammatory demyelinating polyradiculoneuropathy can be made by examining nerve conduction velocity and performing a lumbar puncture (which points out albumin-cytological dissociation). Patients with Charcot-Marie-Tooth disease can express a severe and acute vincristine-induced neuropathy [ 43 , 143 ].…”

Section: Autoimmune Peripheral Neuropathy (Apn)mentioning

confidence: 99%

Peripheral Nervous System Involvement in Non-Primary Pediatric Cancer: From Neurotoxicity to Possible Etiologies

Pro

Vinti

Boni

et al. 2021

JCM

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Peripheral neuropathy is a well described complication in children with cancer. Oncologists are generally well aware of the toxicity of the main agents, but fear the side effects of new drugs. As chemotherapeutic agents have been correlated with the activation of the immune system such as in Chemotherapy Induced Peripheral Neuropathy (CIPN), an abnormal response can lead to Autoimmune Peripheral Neuropathy (APN). Although less frequent but more severe, Radiation Induced Peripheral Neuropathy may be related to irreversible peripheral nervous system (PNS). Pediatric cancer patients also have a higher risk of entering a Pediatric Intensive Care Unit for complications related to therapy and disease. Injury to peripheral nerves is cumulative, and frequently, the additional stress of a malignancy and its therapy can unmask a subclinical neuropathy. Emerging risk factors for CIPN include treatment factors such as dose, duration and concurrent medication along with patient factors, namely age and inherited susceptibilities. The recent identification of individual genetic variations has advanced the understanding of physiopathological mechanisms and may direct future treatment approaches. More research is needed on pharmacological agents for the prevention or treatment of the condition as well as rehabilitation interventions, in order to allow for the simultaneous delivery of optimal cancer therapy and the mitigation of toxicity associated with pain and functional impairment. The aim of this paper is to review literature data regarding PNS complications in non-primary pediatric cancer.

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Unmasking a Case of Asymptomatic Charcot-Marie-Tooth Disease (CMT1A) With Vincristine

Cited by 7 publications

References 16 publications

Toxic medications in Charcot–Marie–Tooth patients: A systematic review

Toxic medications in Charcot–Marie–Tooth patients: A systematic review

Rate of Changes in CMT Neuropathy and Examination Scores in Japanese Adult CMT1A Patients

Peripheral Nervous System Involvement in Non-Primary Pediatric Cancer: From Neurotoxicity to Possible Etiologies

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