The PACS2 gene encodes a multifunctional sorting protein involved in nuclear gene expression and pathway traffic regulation that has been shown to be highly expressed during human prenatal brain development. Pathogenic variants in PACS2 have been recently shown to be implicated in a phenotype with global developmental delay/intellectual disability, seizures, autistic traits, facial dysmorphic features, and cerebellar dysgenesis. Here, we report a 25-year-old male with intellectual disability, epileptic encephalopathy, cerebellar dysgenesis, facial dysmorphism, and a previously reported pathogenic variant in PACS2. To our knowledge, this is the oldest patient reported who, in addition to the known phenotype described in PACS2 patients, presented with a vein of Galen malformation and dilated cardiomyopathy as previously unreported findings.

The aim of the study was to describe the use of two Janus kinase inhibitors (JAKi) in patients with rheumatoid arthritis (RA) recorded at Vall d’Hebron University Hospital (VHUH) between September 2017-November 2019. The data was extracted from the register of Patients and Treatments and medical records. Out of the thirty-nine patients included 90.0% were women, median age 56 years (IQR 29-72) and disease duration 15 years (IQR 8-20). Tofacitinib was the most used (28 patients). All patients had been previously treated with conventional synthetic disease modifying antirheumatic drugs (csDMARDs), and 79.5% with at least one biological DMARD (bDMARD). In 16 patients (41.0%) disease activity category improved. Treatment was withdrawn in 9 patients, mainly due to lack of efficacy (5). Five patients treated with tofacitinib reported gastrointestinal and/or skin disorders. This study shows the usefulness of registries of treated patients to study the use of the new and expensive drugs.

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