Genotype and Phenotype Characterization of Patients with Mucopolysaccharidosis IV-A in Chile.

Introduction: Morquio syndrome or mucopolysaccharidosis type IV-A (MPS IV-A) is an autosomal recessive disease caused by biallelic variants in the gene, encoding the lysosomal enzyme GalN6S, responsible for glycosaminoglycan keratan sulfate and chondroitin-6-sulfate degradation. Studies have shown that the degree of evolutionary and chemical divergence of missense variants in GalN6S when compared to ancestral amino acids is associated with the severity of the syndrome, suggesting a genotype-phenotype correlation. There is little information on Latin American patients with MPS IV-A that replicate these findings.

Hypomyelination and Congenital Cataract: Identification of a Novel likely pathogenic c.414+1G>A in gene Variant.

It is key to expand the differential diagnosis and consider possible genetic etiologies on a patient with congenital cataracts associated with clinical features, such as leukodystrophy or polyneuropathy.

Risk Factors for Perinatal Arterial Ischemic Stroke: A Case-Control Study.

Introduction: Arterial ischemic stroke in newborns is an important cause of neonatal morbidity and mortality. Its pathophysiology and associated risk factors are not yet clearly understood and defined.

Objective: The aim of this retrospective study was to investigate possible risk factors in diagnosed cases of PAIS (perinatal arterial ischemic stroke).

Pediatric Arterial Ischemic Stroke: Clinical Presentation, Risk Factors, and Pediatric NIH Stroke Scale in a Series of Chilean Patients.

Stroke is an important cause of morbidity and mortality in children. Clinical presentation is diverse, and multiple risk factors have been described. The aim of this retrospective study is to describe the clinical presentation, risk factors, and the Pediatric National Institute of Health Stroke Scale (PedNIHSS) in a series of pediatric Chilean patients with the diagnosis of arterial ischemic stroke (AIS).