Photo by kostiantynvierkieiev from unsplash
A 14-month-old child, born of nonconsanguineous parentage, with normal early development till 1 year of age, presented with psychomotor regression. Examination revealed developmental age of 3 months and bipyramidal signs.… Click to show full abstract
A 14-month-old child, born of nonconsanguineous parentage, with normal early development till 1 year of age, presented with psychomotor regression. Examination revealed developmental age of 3 months and bipyramidal signs. Brain MRI (Figures 1 and 2) showed periventricular cavitating leukoencephalopathy (PCL). Clinical exome sequencing showed compound heterozygous, disease-associated missense variant in the IBA57 gene.
Keywords:
neuroimage iba57;
iba57 mutation;
mutation associated;
cavitating leukoencephalopathy;
teaching neuroimage;
associated infantile
Journal Title: Neurology
Year Published: 2022
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!
Journal Title: Neurology
Year Published: 2022
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!