Marfan Syndrome Incorrectly Diagnosed as Autism.

Marfan syndrome is a pleiotropic genetic connective tissue disorder most commonly involving the cardiovascular, skeletal, and ocular systems, which have abundant connective tissue. It is not known to affect the central nervous system, therefore developmental delays or cognitive involvement are not typically associated. We present a case of a 2-year-old Hispanic male who was diagnosed with autism spectrum disorder (ASD) because of poor social interaction, lack of eye contact, and speech delays. Several months after the ASD diagnosis and receiving therapies without improvement, he was unexpectedly found to have severe myopia and bilateral ectopia lentis. These findings prompted further evaluation that subsequently led to a clinical and molecular diagnosis of Marfan syndrome. After correction of his refractive error, his social skills and eye contact had significantly improved and his speech gradually caught up and resolved to a normal level for his age. This report emphasizes the need for comprehensive investigation of children with delays to include ocular assessments before determining ASD in the context of developmental delays.

Gaucher disease and SARS-CoV-2 infection: Experience from 181 patients in New York.

SARS-CoV-2 infection carries high morbidity and mortality in individuals with chronic disorders. Its impact in rare disease populations such as Gaucher disease (GD) is unknown. In GD, decreased acid ß-glucosidase activity leads to the accumulation of inflammatory glycosphingolipids and chronic myeloid cell immune activation which a priori could predispose to the most severe effects of SARS-CoV-2. To evaluate the determinants of SARS-CoV-2 infection in GD, we conducted a cross-sectional study in a large cohort. 181 patients were enrolled, including 150 adults and 31 children, with a majority of patients on treatment (78%). Information on COVID-19 exposure, symptoms, and SARS-CoV-2 nucleic acid and/or antibody testing was obtained during the peak of the pandemic in the New York City metropolitan area. Forty-five adults reported a primary exposure to someone with COVID-19 and 17 (38%) of these patients reported at least one COVID-19 symptom. A subset of adults was tested (n = 88) and in this group 18% (16/88) were positive. Patients testing positive for SARS-CoV-2 had significantly more symptoms (4.4 vs 0.3, p < 0.001) than patients testing negative. Among patients who were antibody-positive, quantitative titers indicated moderate to high antibody response. In GD adults, male gender, older age, increased BMI, comorbidities, GBA genotype, prior splenectomy and treatment status were not associated with the probability of reporting symptoms or testing positive. No patient required COVID-19-specific treatments and there were no deaths. Our data suggests that GD does not confer a heightened risk for severe effects of SARS-CoV-2 infection feared based on the known chronic inflammatory state in these patients.