Resumo

ESPEJO, Lina María; ESPRIELLA, Ricardo de la  e  HERNANDEZ, José Fernando. Metachromatic leukodystrophy. Case presentation. rev.colomb.psiquiatr. [online]. 2017, vol.46, n.1, pp.44-49. ISSN 0034-7450.

Metachromatic leukodystrophy (MLD) is a rare demyelinating disease (prevalence 1:40,000), also called arylsulfatase A deficiency (ARS-A), which may present with neurological and psychiatric symptoms. Clinical assessment may be difficult, due to unspecific signs and symptoms. A case is presented of a 16 year-old female patient seen in psychiatry due to behavioural changes, psychosis, and with impaired overall performance. She was ini tially diagnosed with schizophrenia, but the Nuclear Magnetic Resonance (NMR) scan and laboratory tests lead to the diagnosis of MLD.

Palavras-chave : Metachromatic leukodystrophy; Psychosis; Demyelinating disease.

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