López LJM, Sánchez GJA, Duany ALF, Grey PCS

Language: Spanish
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ABSTRACT

Mucopolysaccharidosis type IV-A (Morquio A disease) is an autosomal recessive lysosomal storage disease caused by mutations in the gene encoding the N-acetylgalactosamine-6-sulfate sulfatase that results in impaired catabolism of two glycosaminoglycans, chondroitin-6-sulfate and keratan sulfate. Clinical presentations reflect a spectrum of progression from a severe phenotype to an attenuated expression. Accumulation of substrate manifests predominantly as short stature and skeletal dysplasia, including atlantoaxial instability and cervical cord compression with other abnormalities in the visual, auditory, cardiovascular and respiratory systems. In spite of many descriptions of the unique clinical manifestations, diagnosis delay still occurs. It was presented a 9 year-old male patient with short stature, severe learning difficulties, bilateral deafness and muscular atrophy among others clinical characteristics; diagnosed with Morquio A disease at age of 2. Due to the peculiarity of this disease, being the second case reported in Cuba, and the atypical of the case it decided its presentation.