[The place of neuropathy in the early diagnosis of Cockayne syndrome: Report on two siblings]. / Place de la neuropathie dans le diagnostic précoce du syndrome de Cockayne : à propos de deux cas dans une fratrie.
Arch Pediatr
; 24(4): 353-359, 2017 Apr.
Article
em Fr
| MEDLINE
| ID: mdl-28258862
ABSTRACT
Two siblings affected with Cockayne syndrome (CS) are described this diagnosis was suggested by the finding of a demyelinating neuropathy on electromyography in both children and consistent clinical features. CS is a rare genetic disorder with severe prognosis and a highly varied phenotype, making early diagnosis difficult. Taking into account these two cases and the literature, the current diagnosis criteria are insufficiently specific and appear late the diagnosis may be delayed because multi-organ involvement and sensorial impairment suggests more frequent neurometabolic disorders. Neuroradiologic abnormalities are suggestive but may occur later. The finding of a demyelinating peripheral neuropathy seems to be a more useful marker to suspect this disorder in the presence of other clinical features. Further studies are required to better define the chronology of the symptoms, not only for adequate genetic counseling and eventual prenatal diagnosis, but also to assess the efficacy of future therapies.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doenças Desmielinizantes
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Síndrome de Cockayne
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Doenças do Sistema Nervoso Periférico
/
Diagnóstico Precoce
Tipo de estudo:
Diagnostic_studies
/
Observational_studies
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Prognostic_studies
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Screening_studies
Limite:
Child
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Child, preschool
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Female
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Humans
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Infant
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Male
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Newborn
Idioma:
Fr
Revista:
Arch Pediatr
Ano de publicação:
2017
Tipo de documento:
Article