Charcot-Marie-Tooth (CMT)-like polyneuropathy revealing neurofibromatosis type 2: A case report and review of the literature

Pégat, Antoine; Ducray, François; Jeannin-Mayer, Sophie; Jouanneau, Emmanuel; Pinson, Stéphane; Petiot, P.

doi:10.1016/j.neurol.2018.10.011

Cited by 3 publications

(4 citation statements)

References 7 publications

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“…Among the 33 patients with PNS, 16 had an electromyography during follow-up. A polyneuropathy was detected in 6 patients (37.5%) including 5 cases of pseudo–Charcot-Marie-Tooth (CMT) axonal neuropathy, including 1 previously reported case, 16 and 1 case of a pure sensory neuropathy. Among the 5 patients with pseudo-CMT neuropathy, 4 had a severe amyotrophy of both hands, including 2 patients with additional amyotrophy of both legs.…”

Section: Resultsmentioning

confidence: 91%

“…Peripheral polyneuropathies and mononeuritis have been described early in NF2 [3][4][5][6] while CMT-like wasting polyneuropathies have been more recently described, with 12 cases reported to date. 16,18 The rate of symptomatic polyneuropathy in patients with NF2 was 6% in initial cohorts 19 but was found to be as high as 47% in a subset of patients with severe disease. 20 Polyneuropathies in NF2 are predominantly axonal and sensorymotor (CMT-like) but axonal-demyelinating and demyelinating forms can be found.…”

Section: Discussionmentioning

confidence: 99%

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Surgical Management of Peripheral Nerve Pathology in Patients With Neurofibromatosis Type 2

et al. 2022

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BACKGROUND:Neurofibromatosis type 2 (NF2) is rare genetic disorder mainly characterized by the development of central nervous system lesions, but peripheral nerve pathology may also cause high morbidity including pain, motor, and sensory loss.OBJECTIVE:To describe the tumor burden of patients with peripheral nerve pathology in NF2 including peripheral neuropathies and schwannomas and the results of surgery in the latter group.METHODS:We conducted a retrospective chart review of all patients with NF2 followed up at our NF2 Reference Center to include all patients suffering from peripheral nerve pathology. Tumor detection relied on focal MRIs based on symptoms.RESULTS:Thirty-four patients harboring 105 peripheral nerve schwannomas and 1 perineurioma were included. Schwannomas were mainly located in major nerves (n = 74, 71%) compared with subcutaneous (n = 23, 22%) and intramuscular (n = 8, 7%) cases. Most schwannomas (81/90-90%) were classical discrete tumors while multinodular cases represented only 9 cases (10%). During follow-up, 63 (60%) tumors were operated in 24 patients, including 39 schwannomas of major nerves. A complete resection was achieved in most of the cases (52/63, 83%) with a complete relief of preoperative pain in most patients (57/60, 95%). Persistent motor deficits (5/39, 13%) were mostly encountered in patients operated from multinodular schwannomas (4/5, 80%). Six patients had an associated peripheral neuropathy with 5 cases of pseudo-Charcot-Marie-Tooth–associated amyotrophy.CONCLUSION:Surgery remains a safe and effective method of treating peripheral nerve schwannoma-associated pain in NF2, with the exception of rare multinodular tumors. Special attention should be drawn to patients harboring severely debilitating neuropathies and perineuriomas.

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Section: Resultsmentioning

confidence: 91%

Section: Discussionmentioning

confidence: 99%

Surgical Management of Peripheral Nerve Pathology in Patients With Neurofibromatosis Type 2

et al. 2022

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“…Distal symmetric polyneuropathy is the dominant phenotype, and phenotype heterogeneity can be seen in the same family. For this reason, all neuropathy phenotypes should be considered while performing genetic tests (20). It is vital to have a detailed family history in the evaluation of polyneuropathy.…”

Section: █ Discussionmentioning

confidence: 99%

The importance of multiple gene analysis for diagnosis and differential diagnosis in charcot marie tooth disease

Yalçıntepe

Gürkan²,

Doğan³

et al. 2021

Turkish Neurosurgery

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AIM: Charcot-Marie-Tooth (CMT) disease or hereditary motor and sensory neuropathy (HMSN) is the definition of a genetically heterogeneous group of diseases characterized by the impaired function of peripheral nerves. The aim of this study was to investigate the genetic etiology of CMT. MATERIAL and METHODS:We herein examined 55 non-related patients with a suspicion of CMT phenotype or HMSN using a customized multigene panel based on the next-generation sequencing technique. All cases were previously analyzed for PMP22 duplication with the Multiplex Ligand Probe Amplification (MLPA) method. RESULTS:In 13 cases (7.15%), we identified a pathogenic/likely pathogenic variant. The affected genes were MARS1, NDRG1, GJB1, GDAP1, MFN2, PRX, SH3TC2, and FGD4. In six cases (10.9%), novel variants were identified: pathogenic variants in GJB1 and FGD4 genes, variants of unknown significance (VUS) in HSPB3, CHRNA1, ARHGEF10, and KIF5A genes. In 21 cases (11.55%), VUS with the genes HSPB3,

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“…Наблюдение из практики II типа и не связанных с развитием опухолей. Описаны случаи множественной мононевропатии и полиневропатии, в том числе фенотипически и электрофизиологически близкой к изменениям при болезни Шарко-Мари-Тута [16][17][18].…”

Section: Russian Journal Of Neurosurgeryunclassified

Neurofibromatosis 2: new perspectives in treatment (case report)

Makashova

Zolotova

Kostyuchenko

et al. 2021

Nejrohirurgiâ (Mosk.)

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Neurofibromatosis 2 is one of the most prevalence disease among phakomatoses characterized by appearance of new central and peripheral nerve system tumors. The main treatment for this patient is a surgery, but in real time we observe the significant changes in treatment and rehabilitation in this patients including radiation therapy and pharmacotherapy. In this paper, we present the case of a different treatment options in young female with neurofibromatosis. She completed surgical treatment, Gamma Knife radiosurgery and bevacizumab on different stage of disease. Development of genetic and molecular methods and appearance of new way for treatment could help to achieve a good functional result and stable local control but new clinical and fundamental research are needed.

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Charcot-Marie-Tooth (CMT)-like polyneuropathy revealing neurofibromatosis type 2: A case report and review of the literature

Cited by 3 publications

References 7 publications

Surgical Management of Peripheral Nerve Pathology in Patients With Neurofibromatosis Type 2

Surgical Management of Peripheral Nerve Pathology in Patients With Neurofibromatosis Type 2

The importance of multiple gene analysis for diagnosis and differential diagnosis in charcot marie tooth disease

Neurofibromatosis 2: new perspectives in treatment (case report)

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