Discover how a groundbreaking stem cell transplantation in Ukraine is offering new hope for siblings battling a rare genetic disorder that affects the spine and brain, marking a significant milestone in the treatment of adrenomyeloneuropathy.
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Novel ABCD1 variant causes phenotype of adrenomyeloneuropathy with cerebral involvement in Ukrainian siblings: first adult hematopoietic stem cell transplantation for ALD in Ukraine: a case report.
Shchubelka et al., J Med Case Rep 2024
DOI: 10.1186/s13256-023-04321-1
Novel Splice Site Mutation in AMN and First Adult HSCT in Ukraine
A novel splice site mutation in the ABCD1 gene associated with adrenomyeloneuropathy (AMN) was identified in two Ukrainian siblings, aged 24 and 31. This mutation is noteworthy for its rarity and the cerebral involvement it causes. The case is further distinguished by documenting the first adult hematopoietic stem cell transplant (HSCT) for AMN in Ukraine. The siblings presented with progressive gait disturbance, lower extremity pain, and urinary incontinence, with the older sibling also experiencing speech, hearing, and vision disturbances. Genetic analysis revealed the unreported mutation in exon 3 of the ABCD1 gene, confirming the diagnosis of AMN with an X-linked recessive inheritance pattern.
The younger sibling’s HSCT was complicated by tuberculosis, highlighting the complexities of treating adult ALD patients. This case emphasizes the value of genetic testing in diagnosing rare genetic disorders and contributes to the genetic characterization of AMN. It also illustrates the challenges in managing adult ALD patients, advocating for personalized treatment approaches.
Importance: The discovery of a new genetic mutation enriches the genetic database for AMN and the successful HSCT, despite complications, marks a significant advancement in treatment options for adult patients with ALD in Ukraine.