Síndrome de McLeod: compromiso multisistémico asociado a neuroacantocitosis ligada al cromosoma X, en una familia chilena

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 neur...

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Autores principales:	Miranda C,Marcelo, Castiglioni T,Claudia, Regonesi L,Carlos, Aravena A,Pedro, Villagra M,Lorena, Quiroz M,Ana, Merino G,Rogelio, Mena G,Ismael
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2006
Materias:	Choreatic disorders Chromosomes, human, X KXantigen, human
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872006001100011
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spelling	oai:scielo:S0034-988720060011000112014-01-24Síndrome de McLeod: compromiso multisistémico asociado a neuroacantocitosis ligada al cromosoma X, en una familia chilenaMiranda C,MarceloCastiglioni T,ClaudiaRegonesi L,CarlosAravena A,PedroVillagra M,LorenaQuiroz M,AnaMerino G,RogelioMena G,Ismael Choreatic disorders Chromosomes, human, X KXantigen, human 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 availableinfo:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.134 n.11 20062006-11-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872006001100011es10.4067/S0034-98872006001100011
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Choreatic disorders Chromosomes, human, X KXantigen, human
spellingShingle	Choreatic disorders Chromosomes, human, X KXantigen, human Miranda C,Marcelo Castiglioni T,Claudia Regonesi L,Carlos Aravena A,Pedro Villagra M,Lorena Quiroz M,Ana Merino G,Rogelio Mena G,Ismael Síndrome de McLeod: compromiso multisistémico asociado a neuroacantocitosis ligada al cromosoma X, en una familia chilena
description	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
author	Miranda C,Marcelo Castiglioni T,Claudia Regonesi L,Carlos Aravena A,Pedro Villagra M,Lorena Quiroz M,Ana Merino G,Rogelio Mena G,Ismael
author_facet	Miranda C,Marcelo Castiglioni T,Claudia Regonesi L,Carlos Aravena A,Pedro Villagra M,Lorena Quiroz M,Ana Merino G,Rogelio Mena G,Ismael
author_sort	Miranda C,Marcelo
title	Síndrome de McLeod: compromiso multisistémico asociado a neuroacantocitosis ligada al cromosoma X, en una familia chilena
title_short	Síndrome de McLeod: compromiso multisistémico asociado a neuroacantocitosis ligada al cromosoma X, en una familia chilena
title_full	Síndrome de McLeod: compromiso multisistémico asociado a neuroacantocitosis ligada al cromosoma X, en una familia chilena
title_fullStr	Síndrome de McLeod: compromiso multisistémico asociado a neuroacantocitosis ligada al cromosoma X, en una familia chilena
title_full_unstemmed	Síndrome de McLeod: compromiso multisistémico asociado a neuroacantocitosis ligada al cromosoma X, en una familia chilena
title_sort	síndrome de mcleod: compromiso multisistémico asociado a neuroacantocitosis ligada al cromosoma x, en una familia chilena
publisher	Sociedad Médica de Santiago
publishDate	2006
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872006001100011
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Síndrome de McLeod: compromiso multisistémico asociado a neuroacantocitosis ligada al cromosoma X, en una familia chilena

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