Rare Diseases
News
FDA approves first oral treatment for spinal muscular atrophy
The oral treatment provided a “meaningful difference from the natural progression of the disease.”
News
FDA approves new treatment for Dravet syndrome
Children treated with fenfluramine experienced significantly greater reductions in the frequency of convulsive seizures than did their peers who...
News
First reported U.S. case of COVID-19 linked to Guillain-Barré syndrome
The unique clinical features in the U.S. case are urinary retention secondary to dysautonomia and ocular symptoms of...
Conference Coverage
New research confirms the efficacy and safety of onasemnogene abeparvovec for SMA
Three investigations indicate that the treatment allows children, including those who are presymptomatic, to achieve and maintain motor milestones...
Conference Coverage
Expert discusses red flags for interstitial lung disease in pediatric rheumatology
MAUI, HAWAII – Catch lung disease early in youths with juvenile dermatomyositis or systemic juvenile idiopathic arthritis.
News
Two rare neurologic conditions linked to COVID-19
Two variants of Guillain-Barré syndrome—Miller Fisher syndrome and polyneuritis cranialis—have been linked with COVID-19 infection.
News
FDA approves Koselugo for pediatric neurofibromatosis treatment
News
First case of COVID-19 presenting as Guillain-Barré reported
A case report from China suggests a possible association between GBS and SARS-CoV-2 infection.
Conference Coverage
Are CRMO and SAPHO syndrome one and the same?
MAUI, HAWAII – Chronic recurrent multifocal osteomyelitis is not just for kids.
From the Journals
Accelerated fetal growth in boys associated with development of AML
The correlation was seen especially in infant boys and those with minimally differentiated leukemia.
Conference Coverage
Breaking bacterial communication may heal EB wounds
LONDON – Disrupting how microorganisms communicate with each other could potentially help heal chronic wounds in patients with epidermolysis...