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Revista médica de Chile

versão impressa ISSN 0034-9887

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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.  http://dx.doi.org/10.4067/S0034-98872008000700011.

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.

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