Biomedical Research

All submissions of the EM system will be redirected to Online Manuscript Submission System. Authors are requested to submit articles directly to Online Manuscript Submission System of respective journal.

Research Article - Biomedical Research (2019) Volume 30, Issue 6

Neuropsychiatric symptoms in a patient diagnosed in adulthood with Metachromatic Leukodystrophy: Case report of low incidence and prevalence in Colombia

Introduction: The metachromatic leukodystrophy (MLD) is a chronic pathology of low prevalence and low worldwide incidence, it is characterized by presenting alterations in the white substance of the central nervous system (CNS), result of a deficiency of the Arylsulfatase A (ARSA) enzyme which is responsible for catalyzing different chemical reactions throughout the organism. It is been found that MLD is clinically related to a deficiency of the neurocognitive functioning, especially in memory tasks (operative memory) and in executive functions (verbal semantic fluency, inhibition, planning and control of the immediate conduct). Objective: Identify the neurocognitive impairment and the neuropsychiatric symptoms in a patient diagnosed with MLD. Case report of low prevalence and incidence in Colombia. Methodology: Participant: Sixty aged female patient, single, right handed person and a teacher with a progressive loss of recent memory, accompanied with postural instability, gait disturbance, balance problems and moderate to severe alterations of neurocognitive and affective type. Results: It is been found that the patient presents executive alterations (frontal lobe) in decisionmaking, planning, inhibition and in operative memory, correlated to a severe alteration in her basic, instrumental and advanced activities of daily life. Conclusion: It is necessary to make neuro-rehabilitation functional plans for people diagnosed with MLD, having as a main objective the improvement of their quality of life in individual, social and family aspects.

Author(s): Cordoba A, Alvear L, Hurtado-González CA, Ramos GE, CINEPSIS, SEMINEC

Abstract Full Text PDF