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
Abstract Background This article presents a case study of two white male siblings of 24 and 31 years of age of self-reported Ukrainian ethnicity diagnosed with adrenomyeloneuropathy (AMN) associated with a novel splice site mutation in the ABCD1 gene. AMN represents a form of X-linked adrenoleukodys...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2024-01-01
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| Series: | Journal of Medical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13256-023-04321-1 |
| _version_ | 1827377346566422528 |
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| author | Khrystyna Shchubelka Olga Herasymenko Andrii Budzyn Oleksandr Lysytsia Anastasiia Rusyn Olga Oleksyk Svitlana Tynta Taras Oleksyk |
| author_facet | Khrystyna Shchubelka Olga Herasymenko Andrii Budzyn Oleksandr Lysytsia Anastasiia Rusyn Olga Oleksyk Svitlana Tynta Taras Oleksyk |
| author_sort | Khrystyna Shchubelka |
| collection | DOAJ |
| description | Abstract Background This article presents a case study of two white male siblings of 24 and 31 years of age of self-reported Ukrainian ethnicity diagnosed with adrenomyeloneuropathy (AMN) associated with a novel splice site mutation in the ABCD1 gene. AMN represents a form of X-linked adrenoleukodystrophy (X-ALD) characterized by demyelination of the spinal cord and peripheral nerves. The case also presents the first adult haematopoietic stem cell transplant (HSCT) for adrenomyeloneuropathy in Ukraine. The rarity of this mutation and its cerebral involvement and the treatment make this case noteworthy and underscore the significance of reporting it to contribute to the existing medical knowledge. Case presentation The patients of 24 and 31 years initially exhibited progressive gait disturbance, lower extremity pain, and urinary incontinence, with the older sibling experiencing more advanced symptoms of speech, hearing, and vision disturbances. A comprehensive genetic analysis identified an unreported splice site mutation in exon 3 of the ABCD1 gene, leading to the manifestation of AMN. The inheritance pattern was consistent with X-linked recessive transmission. The article also outlines the clinical features, magnetic resonance imaging (MRI), and nerve conduction study (NCS) findings. Moreover, it discusses the genetic profile of the affected individuals and female carriers within the family. The younger sibling underwent HSCT, which was complicated by mediastinal lymph node and lung tuberculosis, adding to the complexity of managing adult ALD patients. Conclusions This report emphasizes the importance of genetic testing in diagnosing and comprehending the underlying mechanisms of rare genetic disorders, such as AMN with cerebral involvement. The identification of a novel splice site mutation expands our understanding of the genetic landscape of this condition. Additionally, the challenges and complications encountered during the hematopoietic stem cell transplant procedure underscore the need for cautious consideration and personalized approaches in adult ALD patients. |
| first_indexed | 2024-03-08T12:37:47Z |
| format | Article |
| id | doaj.art-c432b756c28640a68f48e523bbfe8955 |
| institution | Directory Open Access Journal |
| issn | 1752-1947 |
| language | English |
| last_indexed | 2024-03-08T12:37:47Z |
| publishDate | 2024-01-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Medical Case Reports |
| spelling | doaj.art-c432b756c28640a68f48e523bbfe89552024-01-21T12:23:08ZengBMCJournal of Medical Case Reports1752-19472024-01-011811810.1186/s13256-023-04321-1Novel ABCD1 variant causes phenotype of adrenomyeloneuropathy with cerebral involvement in Ukrainian siblings: first adult hematopoietic stem cell transplantation for ALD in Ukraine: a case reportKhrystyna Shchubelka0Olga Herasymenko1Andrii Budzyn2Oleksandr Lysytsia3Anastasiia Rusyn4Olga Oleksyk5Svitlana Tynta6Taras Oleksyk7Department of Biological Sciences, Oakland UniversityRegional Centre of Neurosurgery and NeurologyBone Marrow Transplantation and Immunotherapy Department, NSCH “Okhmatdyt”Bone Marrow Transplantation and Immunotherapy Department, NSCH “Okhmatdyt”Bone Marrow Transplantation and Immunotherapy Department, NSCH “Okhmatdyt”Department of Medicine, State University “Uzhhorod National University”Zakarpattia Regional Clinical HospitalDepartment of Biological Sciences, Oakland UniversityAbstract Background This article presents a case study of two white male siblings of 24 and 31 years of age of self-reported Ukrainian ethnicity diagnosed with adrenomyeloneuropathy (AMN) associated with a novel splice site mutation in the ABCD1 gene. AMN represents a form of X-linked adrenoleukodystrophy (X-ALD) characterized by demyelination of the spinal cord and peripheral nerves. The case also presents the first adult haematopoietic stem cell transplant (HSCT) for adrenomyeloneuropathy in Ukraine. The rarity of this mutation and its cerebral involvement and the treatment make this case noteworthy and underscore the significance of reporting it to contribute to the existing medical knowledge. Case presentation The patients of 24 and 31 years initially exhibited progressive gait disturbance, lower extremity pain, and urinary incontinence, with the older sibling experiencing more advanced symptoms of speech, hearing, and vision disturbances. A comprehensive genetic analysis identified an unreported splice site mutation in exon 3 of the ABCD1 gene, leading to the manifestation of AMN. The inheritance pattern was consistent with X-linked recessive transmission. The article also outlines the clinical features, magnetic resonance imaging (MRI), and nerve conduction study (NCS) findings. Moreover, it discusses the genetic profile of the affected individuals and female carriers within the family. The younger sibling underwent HSCT, which was complicated by mediastinal lymph node and lung tuberculosis, adding to the complexity of managing adult ALD patients. Conclusions This report emphasizes the importance of genetic testing in diagnosing and comprehending the underlying mechanisms of rare genetic disorders, such as AMN with cerebral involvement. The identification of a novel splice site mutation expands our understanding of the genetic landscape of this condition. Additionally, the challenges and complications encountered during the hematopoietic stem cell transplant procedure underscore the need for cautious consideration and personalized approaches in adult ALD patients.https://doi.org/10.1186/s13256-023-04321-1AdrenoleukodystrophyAdrenomyeloneuropathyABCD1 geneNovel variantHematopoietic stem cell transplant |
| spellingShingle | Khrystyna Shchubelka Olga Herasymenko Andrii Budzyn Oleksandr Lysytsia Anastasiia Rusyn Olga Oleksyk Svitlana Tynta Taras Oleksyk 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 Journal of Medical Case Reports Adrenoleukodystrophy Adrenomyeloneuropathy ABCD1 gene Novel variant Hematopoietic stem cell transplant |
| title | 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| topic | Adrenoleukodystrophy Adrenomyeloneuropathy ABCD1 gene Novel variant Hematopoietic stem cell transplant |
| url | https://doi.org/10.1186/s13256-023-04321-1 |
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