3β-Hydroxysteroid dehydrogenase 2 deficiency (3βHSD2D) is a rare form of congenital adrenal hyperplasia (CAH) with variable clinical presentation. We describe a 46, XY child with ambiguous genitalia and CAH without apparent adrenal insufficiency due to 2 novel heterozygous variants in the HSD3B2 gene (c.779C > T/p.Pro260Leu and c.307 + 1G > A/p.Gly103Asp,fs29X). The disease-causing effect of the novel variants was assessed by genetic and functional studies informing on positive...

CONCLUSIONS: NM-MRI and FDOPA-PET may serve as potential biomarkers for early brain involvement and predicting progression to central synucleinopathies in PAF and could help identify patients for early intervention. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

CONCLUSIONS: FND is relatively frequent in patients with MS. As the two conditions might have similar phenomenological presentations, it is important to properly screen and recognize FND because of crucial treatment implications.

Alzheimer's disease is the neurodegenerative disorder responsible for approximately 60% to 70% of all cases of dementia and is expected to affect 152 million by 2050. Recently, anti-amyloid therapies have been developed and approved by the Food and Drug Administration as disease-modifying treatments given as infusions every 2 to 5 weeks for Alzheimer's disease. Although this is an important milestone in mitigating Alzheimer's disease progression, it is critical for emergency medicine clinicians...