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Revista Cubana de Reumatología
versión On-line ISSN 1817-5996
Resumen
OLEAGA VARGAS, Saily F. et al. Demyelinating diseases: metachromatic leukodystrophy and multiple sclerosis, a case study. Rev Cuba Reumatol [online]. 2022, vol.24, n.1 Epub 01-Abr-2022. ISSN 1817-5996.
Demyelinating diseases are infrequent entities in pediatric age; such is the case of metachromatic leukodystrophy and multiple sclerosis, in which genetic and environmental factors take action. both of them affect different structures of the central nervous system, nerves, muscles, organs and individual behavior. These affections have a progressive evolution of the neuromuscular deterioration: soon the patient enters a neurovegetative state with loss of consciousness. Therefore, medical attention and specialized nursing is required. The purpose of this study is to present a case of metachromatic leukodystrophy referring to its complex differential diagnosis with multiple sclerosis and nursing process application. A 6-year-old male patient with record of several respiratory infections and atelectasis, such as extended stay at the intensive care unit. Some other symptoms were muscle hypotonia, lack of tendinous reflexes, and audiovisual disorder. At the age of 6 the patient had lost all contact with the environment, suffered from tetra paresis and frequent tonic seizure episodes. Despite the intense treatments and the follow-ups in several medical consultations, the patient passed away at the age of 6 due to respiratory complications.
Palabras clave : Demyelinating diseases; metachromatic leukodystrophy; multiple sclerosis; neuromuscular deterioration; mechanical ventilation; nursing care process.