Mucolipidosis tipo IV en una paciente con ancestros mapuches: caso clínico / Mucolipidoses type IV in a patient with Mapuche ancestry
Rev. méd. Chile
;
136(7): 892-895, jul. 2008. ilus
Artigo
em Espanhol
| LILACS
| ID: lil-496011
ABSTRACT
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-IV must 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.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Paralisia Cerebral
/
Mucolipidoses
Tipo de estudo:
Estudo diagnóstico
Limite:
Criança
/
Feminino
/
Humanos
País/Região como assunto:
América do Sul
/
Chile
Idioma:
Espanhol
Revista:
Rev. méd. Chile
Assunto da revista:
Medicina
Ano de publicação:
2008
Tipo de documento:
Artigo
País de afiliação:
Chile
Instituição/País de afiliação:
Pontificia Universidad Católica de Chile/CL
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