Transient cerebral white matter lesions in a patient with connexin 32 missense mutation
| Autor: | Helenius J. Schelhaas, A.A.W.M. Gabreëls-Festen, M.S. van der Knaap, Gerard Hageman, J.H.R. Vliegen, Machiel J. Zwarts, B.G.M. van Engelen |
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| Přispěvatelé: | Pediatric surgery, Amsterdam Neuroscience - Cellular & Molecular Mechanisms |
| Rok vydání: | 2002 |
| Předmět: |
Male
Pathology medicine.medical_specialty Adolescent DNA Mutational Analysis Mutation Missense Connexin Connexins Corpus Callosum Central nervous system disease White matter Charcot-Marie-Tooth Disease Parietal Lobe medicine Humans Missense mutation Family history education education.field_of_study medicine.diagnostic_test Respiratory distress Neuromusculaire en neurometabole aandoeningen business.industry Brain Magnetic resonance imaging medicine.disease Magnetic Resonance Imaging medicine.anatomical_structure Neuromuscular and neurometabolic disorders Connexin 32 Occipital Lobe Neurology (clinical) business |
| Zdroj: | Neurology, 59, 2007-8 Neurology, 59(12), 2007-2008. Lippincott Williams and Wilkins Neurology, 59, 12, pp. 2007-8 Schelhaas, H J, Van Engelen, B G M, Gabreëls-Festen, A A W M, Hageman, G, Vliegen, J H R, Van der Knaap, M S & Zwarts, M J 2002, ' Transient cerebral white matter lesions in a patient with connexin 32 missense mutation ', Neurology, vol. 59, no. 12, pp. 2007-2008 . https://doi.org/10.1212/01.WNL.0000038390.29853.46 |
| ISSN: | 0028-3878 |
| DOI: | 10.1212/01.WNL.0000038390.29853.46 |
| Popis: | X-linked dominant Charcot-Marie-Tooth disease (CMT1X) is an inherited motor and sensory neuropathy that is associated with mutations in the gap junction protein connexin 32. Several authors have reported CNS involvement with1-2⇓ and without3-4⇓ cerebral abnormalities on MRI. We present a patient who developed subacute respiratory distress and a pseudobulbar syndrome after an episode of fever. MRI of the brain showed confluent cerebral white matter lesions. The clinical features and cerebral white matter lesions resolved spontaneously. A 14-year-old boy presented with gait difficulties and weakness in both feet. His symptoms had insidiously started 10 years previously. There was no history of recent immunization, and he did not use any drugs. Family history revealed that the patient’s mother from an early age had the same foot deformities as her son; … |
| Databáze: | OpenAIRE |
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