Expanding the Phenotype: Four New Cases and Hope for Treatment in Bachmann-Bupp Syndrome

The study expanded the understanding of Bachmann-Bupp syndrome (BABS) by reporting four new cases, bringing the total to 9 patients. It confirmed phenotypic characteristics such as developmental delay, macrocephaly, and non-congenital alopecia, which appeared shortly after birth. The study noted the first report of late-onset seizures in a 23-year-old patient and highlighted inconsistent neuroimaging abnormalities. It supported a universal biochemical mechanism involving elevated ODC protein and enzyme activity, with potential treatment using the ODC inhibitor DFMO, which normalized elevated levels in patient-derived cells. The research emphasized the importance of early diagnosis and intervention, suggesting targeted ODC1 gene analysis when rapid hair loss and developmental delay are observed. The study called for further research and potential treatment options for BABS.