[McLeod syndrome: Multisystem involvement associated with neuroacanthocytosis linked to X chromosome. report of two related cases]. / Síndrome de McLeod: compromiso multisistémico asociado a neuroacantocitosis ligada al cromosoma X, en una familia chilena.
Rev Med Chil
; 134(11): 1436-42, 2006 Nov.
Article
em Es
| MEDLINE
| ID: mdl-17277857
Neurological abnormalities associated with spiculated, "acanthocytic" red cells in blood have been described as neuroacanthocytosis. This is a heterogeneous group of conditions that can be clearly subdivided on the basis of recent genetic findings. The McLeod Syndrome, one of the core neuroacanthocytosis syndromes, is a rare X-linked disorder caused by mutations of the XK gene, an X-chromosomal gene of unknown function characterized by haemopoietic abnormalities and late-onset neurological and muscular defects. We report two Chilean brothers with the McLeod phenotype who showed important psychiatric features. The diagnosis may be elusive if the presence of acanthocytosis is not properly studied. We describe a method which allowed the diagnosis that unmasked acanthocytosis. Otherwise the condition could have remained undiagnosed as it had been for decades in this family. This syndrome must be considered when assessing a familial movement disorder, specially affecting males with relevant psychiatric features. A reliable test for acanthocytosis assessment is available.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas Sanguíneas
/
Sistemas de Transporte de Aminoácidos Neutros
/
Doenças Genéticas Ligadas ao Cromossomo X
/
Neuroacantocitose
/
Mutação
/
Antígenos de Superfície
Tipo de estudo:
Diagnostic_studies
/
Risk_factors_studies
Limite:
Humans
/
Male
/
Middle aged
País/Região como assunto:
America do sul
/
Chile
Idioma:
Es
Revista:
Rev Med Chil
Ano de publicação:
2006
Tipo de documento:
Article
País de afiliação:
Chile
País de publicação:
Chile