TRANSIENT NEUROLOGICAL DEFICIT IN NEURAL AMYOTROPHY OF CHARCOT-MARIE-TOOTH: CLINICAL OBSERVATION AND LITERATURE REVIEW
Aydar N Khabibrakhmanov , Rezeda I Davleshina , Marat A Khayrullov , Enver I Bogdanov
Neurology Bulletin ›› 2018, Vol. L ›› Issue (4) : 78 -81.
TRANSIENT NEUROLOGICAL DEFICIT IN NEURAL AMYOTROPHY OF CHARCOT-MARIE-TOOTH: CLINICAL OBSERVATION AND LITERATURE REVIEW
Some acute transient insult-like episodes can occur in patients with Charcot-Marie-Tooth X-type disease, mainly in childhood and adolescence. Their development is probably associated with leukoencephalopathy due to the mutation of the GJB1 gene, which is observed in both peripheral and central nervous system. Acute neurologic symptoms with MRI-verified leukoencephalopathy can be wrongly supposed to the incorrect diagnosis, acute disseminated encephalomyelitis for example. Such patients can get unnecessary examinations and potentially dangerous treatment. We present a clinical case of the 19-year-old patient with CMTX, who entered neurology department of Republican Clinical Hospital in Kazan city after the development of two transient insult-like episodes with the following manifestations: hemiparesis, dysarthria, dysphagia with MRT-revealed white matter lesions of the brain.
GJB1 / Charcot-Marie-Tooth disease / transient central nervous system symptoms / stroke-like / ADEM / white matter lesions / GJB1 / connexin 32
| [1] |
Aktan Z. et al. A case with CMTX1 disease showing transient ischemic-attack-like episodes // Neurol Neurochir Pol. 2017 Nov 9. pii: S0028-3843(17)30245-1. |
| [2] |
Bähr M., Andres F., Timmerman V. et al. Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene // Journal of Neurology, Neurosurgery & Psychiatry. 1999. Vol. 66. P. 202-206. |
| [3] |
Basu A., Horvath R., Esisi B. et al. Recurrent stroke-like episodes in X-linked Charcot-Marie-Tooth disease // Neurology. 2011. Vol. 77(12). P. 1205-1206. |
| [4] |
Bergoffen J., Scherer S.S., Wang S. et al. Connexin mutations in X-linked Charcot-Marie-Tooth disease // Science. 1993. Vol. 262 (5142). P. 2039-2042. |
| [5] |
Fischbeck K.H., Abel A., Lin G.S., Scherer S.S. X-linked Charcot-Marie-Tooth Disease and Connexin32 // Annals of the New York Academy of Sciences. 1999. Vol. 883. P. 36-41. |
| [6] |
Gun-Ha Kim, Kyoung Min Kim, Sang-il Suh et al. Charcot-Marie-Tooth Disease Masquerading as Acute Demyelinating Encephalomyelitis-Like Illness // Pediatrics. Jul 2014. Vol. 134 (1). P. e270-e273. |
| [7] |
http://www.molgen.ua.ac.be/CMTMutations/Mutations/MutByGene.cfm (дата обращения 10.04.2018). |
| [8] |
Majeed Al-Mateen, Alexa Kanwit Craig, Phillip F. Chance. The central nervous system phenotype of X-linked Charcot-Marie-Tooth disease: a transient disorder of children and young adults // Journal of Child Neurology. 2013. Vol. 29, Issue 3. P. 342-348. |
| [9] |
Nicholson G., Corbett A. Slowing of central conduction in X-linked Charcot-Marie-Tooth neuropathy shown by brainstem auditory evoked responses // Journal of Neurology, Neurosurgery & Psychiatry. 1996. Vol. 61. P. 43-46. |
| [10] |
Paulson H.L., Garbern J.Y., Hoban T.F., et al. Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease // Ann Neurol. 2002 Oct. Vol. 52(4). P. 429-434. |
| [11] |
Saporta A.S.D., Sottile S.L., Miller L.J. et al. Charcot-Marie-Tooth disease subtypes and genetic testing strategies // Ann Neurol. 2011. Vol. 69. P. 22-33. |
| [12] |
Shy M.E., Siskind C., Swan R.E. et al. CMT1X phenotypes represent loss of GJB1 gene function // Neurology. Mar 2007. Vol. 68 (11). P. 849-855. |
Khabibrakhmanov A.N., Davleshina R.I., Khayrullov M.A., Bogdanov E.I.
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