Metachromatic leukodystrophy: case report of child with late infantile form
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Abstract
Metachromatic leukodystrophy (LDM) is a demyelinating neurological disease caused by an inborn error of metabolism, resulting in deficiency of the enzyme arylsulfatase A. The early signs of disease begin with loss of developmental milestones and motor regression. Objective: report a case of a child with LDM, highlighting the seizures and visual deficit at the onset of the disease. Method: observational, cross-sectional and retrospective study. The research was carried out at the state hospital of Santa Catarina. Patient information was obtained through electronic medical record review, outpatient visits, home visit and physical examination. Results: the child developed normally until the onset of symptoms. From the second year of life, acute episodes of fever associated with frequent generalized seizures arose. During hospitalization, she had regression of neuropsychomotor development and, later, visual deficit. With the passing of the years she presented opistonous posture, incapacity of communication and total dependence of the parents. The child was hospitalized frequently due to pneumonia and was in palliative care. The death occurred at 7 years old. Conclusion: the girl’s clinical condition is similar to the literature. Generalized seizures and sudden visual deficit were unique in comparison to other reports.
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