Biomedical Research

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
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