Hypophosphatemic Rickets in Colombia: A Prevalence-Estimation Model in Rare Diseases. 2018.

Background: Hypophosphatemic rickets is a rare, genetic syndrome with multisystem involvement. It causes skeletal abnormalities, painful enthesopathies, increased risk of fracture, and short stature; leading to a substantial burden of disease, disability, and worsening of quality of life. To improve health conditions of people living with this disease, it is essential to know its prevalence which is currently unknown in Colombia.

Clinical and mutational spectrum of Colombian patients with Pelizaeus Merzbacher Disease.

Case Presentation: Pelizaeus Merzbacher Disease (PMD) is an X-linked developmental defect of myelination that causes childhood chronic spastic encephalopathy. Its genetic etiology can be either a duplication (or other gene dosage alterations) or a punctual mutation at the locus. Clinically, it presents with developmental delay, nystagmus and, spasticity, supported by neuroimaging in which the defect of myelination is evident.