SciELO - Scientific Electronic Library Online

vol.136 número7Staphylococcus aureus comunitario resistente a cloxacilina: Comunicación de los primeros cinco casos descritos en ChileQuiste hidatídico tiroideo sintomático: Caso clínico índice de autoresíndice de assuntospesquisa de artigos
Home Pagelista alfabética de periódicos  

Serviços Personalizados




Links relacionados


Revista médica de Chile

versão impressa ISSN 0034-9887


HERNANDEZ CH, Marta et al. Mucolipidoses type IV in a patient with Mapuche ancestry. Rev. méd. Chile [online]. 2008, vol.136, n.7, pp.892-895. ISSN 0034-9887.

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

Palavras-chave : Cerebral palsy; Indians, South American; Mucolipidoses, type IV.

        · texto em Espanhol     · Espanhol ( pdf )


Creative Commons License Todo o conteúdo deste periódico, exceto onde está identificado, está licenciado sob uma Licença Creative Commons