If at first you don't succeed, test again (for peroxisomal biogenesis disorders)

摘要

The correct diagnosis of patients with leukodystro-phies continues to be a challenge. Historical cohorts demonstrate that nearly half of cases of presumed genetic white matter disease of the brain remain unsolved.1 These patients with unclassified leukodystro-phies and their families face the medical, economic, and emotional challenges associated with lack of a specific diagnosis. Patients often undergo years of costly and often invasive testing without a definitive answer. MRI pattern recognition23 is an approach by which individual abnormal features on MRI can be used to narrow the differential or identify a diagnosis. This approach has provided answers for individual patients, defined new disorders, and even ultimately led to identification of a causal gene in cohorts of previously undiagnosed patients.