Articles related to RARE CONDITIONS & DISEASES

The American Thoracic Society updated guidance for childhood interstitial lung disease in infants, emphasizing genetic testing, chest imaging, biopsy indications, and transplant referral. Recommendations formalize evaluation priorities for rare pediatric lung disorders.

A systematic review and meta-analysis linked plasma exchange with high recovery rates in MOGAD attacks, especially optic neuritis. Included studies were observational and could not isolate PLEX effects.

A first joint EULAR/PReS guideline unifies systemic juvenile idiopathic arthritis and adult-onset Still’s disease under a single name, Still’s disease, and recommends early IL-1 or IL-6 inhibitor therapy over prolonged glucocorticoid use.

A Medicare cohort study found a median delay of 494 days between incident heart failure diagnosis and ATTR-CM diagnosis, with female sex, aortic stenosis, COPD, coronary artery disease, diabetes, and hypertension associated with longer diagnostic delays.

Late-breaking sessions at AAN 2026 spanned rare disease, migraine prevention, epilepsy, FTD, MS, early Alzheimer’s, neuropathic pain, and stiff person syndrome, with mixed signals across disease-modifying and symptomatic therapies.

Hereditary TTP, an ultra-rare ADAMTS13 deficiency affecting roughly one in a million, is now managed with weekly recombinant ADAMTS13 infusions in a pediatric outpatient setting.