Magnetic resonance imaging for diagnosing a rare disease: incontinentia pigmenti (Bloch–Sulzberger syndrome) on the example of a clinical case
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| 1. | Title | Title of document | Magnetic resonance imaging for diagnosing a rare disease: incontinentia pigmenti (Bloch–Sulzberger syndrome) on the example of a clinical case |
| 2. | Creator | Author's name, affiliation, country |
Igor I. Yarmola; National Medical Research Center for Children's Health ; Russian Federation |
| 2. | Creator | Author's name, affiliation, country |
Anatoly V. Anikin; National Medical Research Center for Children's Health ; Russian Federation |
| 2. | Creator | Author's name, affiliation, country |
Dmitry A. Gankin; Shchelkovsky Perinatal Center ; Russian Federation |
| 2. | Creator | Author's name, affiliation, country |
Lyubov E. Fomina; National Medical Research Center for Children's Health ; Russian Federation |
| 2. | Creator | Author's name, affiliation, country |
Natalia A. Kharitonova; National Medical Research Center for Children's Health ; Russian Federation |
| 2. | Creator | Author's name, affiliation, country |
Ilya S. Zhanin; National Medical Research Center for Children's Health ; Russian Federation |
| 2. | Creator | Author's name, affiliation, country | Aleksandr A. Pushkov; National Medical Research Center for Children's Health ; Russian Federation |
| 2. | Creator | Author's name, affiliation, country | Milana A. Basargina; National Medical Research Center for Children's Health ; Russian Federation |
| 2. | Creator | Author's name, affiliation, country | Olga B. Kondakova; National Medical Research Center for Children's Health ; Russian Federation |
| 3. | Subject | Discipline(s) | |
| 3. | Subject | Keyword(s) | incontinentia pigmenti; Bloch–Sulzberger syndrome; magnetic resonance imaging; white matted tracts degeneration; IKBKG gene |
| 4. | Description | Abstract | Incontinentia pigmenti, also known as Bloch–Sulzberger syndrome, is a rare hereditary disease characterized by typical skin rashes and involvement of other organs and systems. Magnetic resonance imaging stands as the primary method for visualizing the structural pathology of the brain and predicting neurological manifestations in an affected child. Diagnosing incontinentia pigmenti predominantly falls within the domain of dermatologists; verification is performed by molecular genetic analysis of the IKBKG gene. This study involved magnetic resonance imaging of the brain in a patient with skin rashes, characteristic of Bloch–Sulzberger syndrome, and deletion in the IKBKG gene, where numerous foci of ischemia, hemorrhages, and lesions of the tracts were detected. Magnetic resonance imaging of the brain in patients with Bloch–Sulzberger syndrome is used to evaluate the severity of damage to the brain substance, which makes it possible to explain the cause of neurological symptoms and correct habilitation, as well as predict the development of the child. |
| 5. | Publisher | Organizing agency, location | Eco-Vector |
| 6. | Contributor | Sponsor(s) |
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| 7. | Date | (DD-MM-YYYY) | 26.09.2023 |
| 8. | Type | Status & genre | Peer-reviewed Article |
| 8. | Type | Type | Research Article |
| 9. | Format | File format | PDF (Rus), PDF (Rus), |
| 10. | Identifier | Uniform Resource Identifier | https://jdigitaldiagnostics.com/DD/article/view/430154 |
| 10. | Identifier | Digital Object Identifier (DOI) | 10.17816/DD430154 |
| 10. | Identifier | Digital Object Identifier (DOI) (PDF (简体中)) | 10.17816/DD430154-142706 |
| 11. | Source | Title; vol., no. (year) | Digital Diagnostics; Vol 4, No 3 (2023) |
| 12. | Language | English=en | en |
| 13. | Relation | Supp. Files |
Fig.1. Vesicles aligned with the lines of Blaschko. (220KB) doi: 10.17816/DD430154-4183137 Fig. 2. Diffuse-weighted brain images in the axial plane: (a) the arrow shows the hyperintense signal from the spinal tracts in the brain peduncles and (b) multiple lesions and involvement of the corpus callosum. (100KB) doi: 10.17816/DD430154-4183138 Fig. 3. Magnetic resonance imaging (MRI) of the brain: (a) susceptibility-weighted images (the arrows show microhemorrhages) and (b) Т1-weighted images (the arrows indicate hyperintense areas of the cortical necrosis). (95KB) doi: 10.17816/DD430154-4183139 |
| 14. | Coverage | Geo-spatial location, chronological period, research sample (gender, age, etc.) | |
| 15. | Rights | Copyright and permissions |
Copyright (c) 2023 Eco-Vector This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. |