Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5722675 | Revista Colombiana de Psiquiatría | 2017 | 6 Pages |
Abstract
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 initially diagnosed with schizophrenia, but the Nuclear Magnetic Resonance (NMR) scan and laboratory tests lead to the diagnosis of MLD.
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Authors
Lina MarÃa Espejo, Ricardo de la Espriella, José Fernando Hernández,