An unusual neuroimaging finding and response to immunotherapy in a child with genetically confirmed vanishing white matter disease.
Eur J Paediatr Neurol
; 21(2): 410-413, 2017 Mar.
Article
em En
| MEDLINE
| ID: mdl-27665184
ABSTRACT
BACKGROUND:
We present an unusual neuroimaging finding in a young girl with genetically confirmed vanishing white matter disease and a possible response to immunotherapy. METHODS ANDRESULTS:
2.5 yr old girl, presented with acute onset unsteadiness and encephalopathy following a viral illness. MRI showed global symmetric white matter abnormality, with symmetric enhancement of cranial nerves (III and V) and of cervical and lumbar roots. She received immunotherapy for her encephalopathic illness with white matter changes. Follow up neuroimaging showed resolution of white matter edema and resolution of the change in the brainstem. Genetic testing confirmed a diagnosis of vanishing white matter disease (VWMD).CONCLUSION:
Craniospinal nerve enhancement and possible response to immunotherapy has not been described in vanishing white matter disease.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Encefalopatias
/
Testes Genéticos
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Imunoglobulinas Intravenosas
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Corticosteroides
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Neuroimagem
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Substância Branca
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Child, preschool
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Female
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Humans
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article