Evaluación neuropsicológica de un adulto colombiano diagnosticado con Síndrome de Morquio B

Abstract

Since Morquio B syndrome is a low-prevalence rare disease, scarce evidence about neuropsychological functio- ning and cognitive status in diagnosed people is known. This case study shows the results of functioning in attention, memory, language, gnosias, praxias, and executive functions in a Colombian man diagnosed with this syndrome. It was found that the patient is capable of acquiring new information and exhibits preserved visuospatial and verbal working memory; he is also able to repeat, read and write simple information as long as it is familiar to him, and is capable of following simple verbal instructions with no difficulty; moreover, he displays preserved visuospatial and graphomotor abilities, has a normal development of abstract and associative thinking, and is able to plan and solve problems. No- netheless, he exhibits difficulties in audio-verbal and sustained visual attention, as well as in processing speed, com- prehensive language, repetition and writing of complete phrases, cognitive flexibility, and semantic and phonological verbal fluency. It is discussed the association between Morquio B syndrome and gangliosidosis GM1 as well as the lack of training in the management of highly complex information due to unschooling of this patient as the two most relevant factors of his cognitive functioning.
Keywords: Morquio B syndrome, MPS IV-B, rare diseases, neuropsychological assessment, mucopolysaccharidosis

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