Abstract

CASTELLANOS, Liset Betancourt; CEVALLOS CABRERA, Juliana Katherine; VERA SANCHEZ, Luiggy Leoneris  and  BORDELOIS, Marioneya Izaguirre. CLINICAL CHARACTERIZATION OF PATIENTS WITH MUCOPOLISACARIDOSIS. MANABÍ, ECUADOR. Revista San Gregorio [online]. 2019, vol.1, n.29, pp.24-33. ISSN 2528-7907.

Mucopolysaccharidosis (MPS) are diseases that result from the deficiency of lysosomal enzymes. It is presented as a chronic, multisystemic and progressive clinical affectation in the affected organs, although of variable degree according to the different enzymatic defects. Due to the variability of clinical manifestations, it is difficult to diagnose, which usually leads to underestimation of the frequency in some types. In order to identify the clinical characteristics and the most frequent types of MPS in patients treated at the Hospital ¨Dr. Verdi Cevallos Balda¨ from Portoviejo, Manabí, a qualitative, exploratory and cross-sectional study was carried out, where the data of 30 patients with diagnosis of MPS were collected, from the medical file of each patient attended in the period October 2017- January 2018 , from where the clinical type of MPS was taken, and the clinical characteristics by regions and systems. The most frequent dysmorphic features on the face were the protruding tongue and thick eyebrows. In relation to the regions and systems, there was a high incidence of patients with short necks, small and thickened clavicles, small iliac bones and language delay. In the study population, the largest number corresponded to patients with mucopolysaccharidosis type III.

Keywords : Clinical characteristics; lysosomal diseases; mucopolysaccharidosis; dysmorphic features; mucopolysaccharidosis types.

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