The central nervous system phenotype of X-linked Charcot-Marie-Tooth disease: a transient disorder of children and young adults
| Autor: | Alexa Kanwit Craig, Majeed Al-Mateen, Phillip F. Chance |
|---|---|
| Rok vydání: | 2013 |
| Předmět: |
Adult
Male congenital hereditary and neonatal diseases and abnormalities Pathology medicine.medical_specialty Ataxia Adolescent Central nervous system Tetraparesis Diagnosis Differential Central Nervous System Diseases Charcot-Marie-Tooth Disease Medicine Humans Paralysis education Child education.field_of_study Muscle Weakness business.industry Age Factors Brain Periodic paralysis medicine.disease Magnetic Resonance Imaging Hyperintensity Hemiparesis medicine.anatomical_structure Phenotype Pediatrics Perinatology and Child Health Connexin 32 Female Neurology (clinical) Differential diagnosis medicine.symptom business |
| Zdroj: | Journal of child neurology. 29(3) |
| ISSN: | 1708-8283 |
| Popis: | We describe 2 patients with X-linked Charcot-Marie-Tooth disease, type 1 (CMTX1) disease and central nervous system manifestations and review 19 cases from the literature. Our first case had not been previously diagnosed with Charcot-Marie-Tooth disease, and the second case, although known to have Charcot-Marie-Tooth disease, was suspected of having CMTX1 after presentation with central nervous system manifestations. The most common central nervous system manifestations were transient and included dysarthria, ataxia, hemiparesis, and tetraparesis resembling periodic paralysis. Of the 21 patients, 19 presented at 21 years of age or younger, implicating CMTX1 with transient central nervous system manifestations as a disorder that predominantly affects children and adolescents. CMTX1 should be included in the differential diagnosis of patients who present with transient central nervous system phenomena, including stroke-like episodes, tetraparesis suggestive of periodic paralysis, dysarthria, ataxia, or combinations of these deficits. Reversible, bilateral, nonenhancing white matter lesions and restricted diffusion on magnetic resonance imaging are characteristic features of the central nervous system phenotype of CMTX1. |
| Databáze: | OpenAIRE |
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