Mucolipidosis tipo IV en una paciente con ancestros mapuches. Caso clínico

We report a 7 year-old girl with mapuche ancestors, diagnosed as a cerebral palsy since infancy and on active rehabilitation. She acquired motor and cognitive skills at 3 years of age. At 5 years of age, a slow neurological deterioration started, associated to visual impairment. Optic atrophy was ad...

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Autores principales:	Hernández Ch,Marta, Méndez C,José Ignacio, Concha G,María José, Huete L,Isidro, González B,Sergio, Durán S,Gloria P
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2008
Materias:	Cerebral palsy Indians, South American Mucolipidoses, type IV
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872008000700011
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spelling	oai:scielo:S0034-988720080007000112008-09-04Mucolipidosis tipo IV en una paciente con ancestros mapuches. Caso clínicoHernández Ch,MartaMéndez C,José IgnacioConcha G,María JoséHuete L,IsidroGonzález B,SergioDurán S,Gloria P Cerebral palsy Indians, South American Mucolipidoses, type IV We report a 7 year-old girl with mapuche ancestors, diagnosed as a cerebral palsy since infancy and on active rehabilitation. She acquired motor and cognitive skills at 3 years of age. At 5 years of age, a slow neurological deterioration started, associated to visual impairment. Optic atrophy was added to the typical neurological exam ofataxic cerebral palsy and the diagnosis was re-considered. Neuroimaging showed a slow and progressive atrophy of intracerebral structures and ultramicroscopy revealed intracytoplasmatic inclusions in conjunctiva and skin, compatible with mucolipidoses type IV (ML-IV). ML-IVmust be included in the differencial diagnosis of cerebral palsy associated with loss of acquired skills and progressive visual impairment. Electrón microscopy of skin or conjunctiva is a useful diagnostic test. Suspicion of ML-IV must not be restricted to Ashkenazi Jewish populationinfo:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.136 n.7 20082008-07-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872008000700011es10.4067/S0034-98872008000700011
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Cerebral palsy Indians, South American Mucolipidoses, type IV
spellingShingle	Cerebral palsy Indians, South American Mucolipidoses, type IV Hernández Ch,Marta Méndez C,José Ignacio Concha G,María José Huete L,Isidro González B,Sergio Durán S,Gloria P Mucolipidosis tipo IV en una paciente con ancestros mapuches. Caso clínico
description	We report a 7 year-old girl with mapuche ancestors, diagnosed as a cerebral palsy since infancy and on active rehabilitation. She acquired motor and cognitive skills at 3 years of age. At 5 years of age, a slow neurological deterioration started, associated to visual impairment. Optic atrophy was added to the typical neurological exam ofataxic cerebral palsy and the diagnosis was re-considered. Neuroimaging showed a slow and progressive atrophy of intracerebral structures and ultramicroscopy revealed intracytoplasmatic inclusions in conjunctiva and skin, compatible with mucolipidoses type IV (ML-IV). ML-IVmust be included in the differencial diagnosis of cerebral palsy associated with loss of acquired skills and progressive visual impairment. Electrón microscopy of skin or conjunctiva is a useful diagnostic test. Suspicion of ML-IV must not be restricted to Ashkenazi Jewish population
author	Hernández Ch,Marta Méndez C,José Ignacio Concha G,María José Huete L,Isidro González B,Sergio Durán S,Gloria P
author_facet	Hernández Ch,Marta Méndez C,José Ignacio Concha G,María José Huete L,Isidro González B,Sergio Durán S,Gloria P
author_sort	Hernández Ch,Marta
title	Mucolipidosis tipo IV en una paciente con ancestros mapuches. Caso clínico
title_short	Mucolipidosis tipo IV en una paciente con ancestros mapuches. Caso clínico
title_full	Mucolipidosis tipo IV en una paciente con ancestros mapuches. Caso clínico
title_fullStr	Mucolipidosis tipo IV en una paciente con ancestros mapuches. Caso clínico
title_full_unstemmed	Mucolipidosis tipo IV en una paciente con ancestros mapuches. Caso clínico
title_sort	mucolipidosis tipo iv en una paciente con ancestros mapuches. caso clínico
publisher	Sociedad Médica de Santiago
publishDate	2008
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872008000700011
work_keys_str_mv	AT hernandezchmarta mucolipidosistipoivenunapacienteconancestrosmapuchescasoclinico AT mendezcjoseignacio mucolipidosistipoivenunapacienteconancestrosmapuchescasoclinico AT conchagmariajose mucolipidosistipoivenunapacienteconancestrosmapuchescasoclinico AT huetelisidro mucolipidosistipoivenunapacienteconancestrosmapuchescasoclinico AT gonzalezbsergio mucolipidosistipoivenunapacienteconancestrosmapuchescasoclinico AT duransgloriap mucolipidosistipoivenunapacienteconancestrosmapuchescasoclinico
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Mucolipidosis tipo IV en una paciente con ancestros mapuches. Caso clínico

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