Publications by authors named "Petra Kolditz"
Article Synopsis
- 4H leukodystrophy is an autosomal recessive disorder linked to hypomyelination and several endocrine issues, caused by mutations in genes like POLR3A and POLR3B.
- The study involved 150 patients and aimed to systematically assess their endocrine and growth abnormalities while exploring potential genotype/phenotype links.
- Findings revealed that delayed puberty and short stature are common in these patients, highlighting a need for more thorough investigation of endocrine problems in this group.
Background: Spinal cord ischaemia is rare in childhood and information on clinical presentation and outcome is scarce.
Methods: This is a retrospective analysis of eight patients and 75 additional cases from the literature. Data search included: patient's age, primary manifestation, risk factors, neuroimaging and outcome.