Espejo Lina María, de la Espriella Ricardo, Hernández José Fernando
Clínica Nuestra Señora de La Paz, Bogotá, Colombia.
Pontificia Universidad Javeriana, Bogotá, Colombia.
Rev Colomb Psiquiatr. 2017 Jan-Mar;46(1):44-49. doi: 10.1016/j.rcp.2016.05.001. Epub 2016 Jun 16.
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.
