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

• Marta Hernández Ch ^[1] ; José Ignacio Méndez C ; María José Concha G ; Isidro Huete L ^[1] ; Sergio González B ^[1] ; Gloria P Durán S ^[1]
  1. [1] Pontificia Universidad Católica de Chile

     Pontificia Universidad Católica de Chile

     Santiago, Chile

     
• Localización: Revista Médica de Chile, ISSN-e 0034-9887, Vol. 136, Nº. 7, 2008, págs. 892-895
• Idioma: español
• Títulos paralelos:
  • Mucolipidoses type IV in a patient with Mapuche ancestry
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• Resumen

  • 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