Expanding the phenotype: Four new cases and hope for treatment in Bachmann-Bupp syndrome.
Level 4 - case-series / case-control
Case series describing four patients with a rare genetic disorder
PubMed 34477286 · doi:10.1002/ajmg.a.62473
What was done
The authors evaluated and characterized the clinical, genetic, and neuroimaging findings in four newly diagnosed patients with Bachmann-Bupp syndrome (BABS), a rare condition caused by gain-of-function variants in the C-terminus of the ODC1 gene.
What was found
The report describes four new patients and identifies late-onset seizures in the oldest reported individual (23 years of age) as a newly recognized feature. Neuroimaging abnormalities remained an inconsistent finding. Variants clustered in the C-terminus, supporting a biochemical mechanism of elevated ornithine decarboxylase activity and polyamine abnormalities. No quantitative metrics or statistical values were provided in the abstract.
Why it matters
This expands the known phenotypic spectrum to include adult-onset seizures, helping guide surveillance, diagnostic testing, and potential management pathways with difluoromethylornithine (DFMO).
Limits
The report is an uncontrolled descriptive case series with a very small sample size (n = 4). Quantitative biochemical measurements and therapeutic outcome data for DFMO were not reported in the abstract.
Cited by
- supports Bachmann-Bupp syndrome has only been described in 20 children in the medical literature.
- supports Bachmann-Bupp syndrome is caused by a genetic mutation that results in elevated levels of the enzyme ODC1.