The role of HEPCAM in Jacobsen syndrome: A pediatric case report highlighting white matter abnormalities
Jacobsen syndrome (JS) is a rare contiguous gene deletion disorder characterized by a deletion at the terminal end of the long arm of chromosome 11. JS has various phenotypic features, such as neurodevelopmental delays and congenital heart defects. Furthermore, deletion mutations in the long arm of...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-03-01
|
| Series: | Brain Disorders |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S266645932500006X |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1825206880608190464 |
|---|---|
| author | Ghazaleh Ghorbannezhad Reza Nejad Shahrokh Abadi Farrokh Seilanian Toosi Shima Shekari Saeedeh Sadat Mirtooni Narges Hashemi |
| author_facet | Ghazaleh Ghorbannezhad Reza Nejad Shahrokh Abadi Farrokh Seilanian Toosi Shima Shekari Saeedeh Sadat Mirtooni Narges Hashemi |
| author_sort | Ghazaleh Ghorbannezhad |
| collection | DOAJ |
| description | Jacobsen syndrome (JS) is a rare contiguous gene deletion disorder characterized by a deletion at the terminal end of the long arm of chromosome 11. JS has various phenotypic features, such as neurodevelopmental delays and congenital heart defects. Furthermore, deletion mutations in the long arm of chromosome 11 can also give rise to Megalocephalic Leukoencephalopathy (MLC), affecting the HEPCAM gene. The following case report presents a 9-year-old girl with JS and remarkable white matter abnormalities (WMA). Despite the complex clinical presentation with craniofacial anomalies and limb malformations, there were slow partial improvements in the WMAs over time as evidenced by sequential MRI findings. This case adds to the previously documented literature on the topic of white matter abnormalities in the context of Jacobsen syndrome, and showcases these changes after several years. |
| format | Article |
| id | doaj-art-7f7f0ea12c4f48e2bd6182f046b13895 |
| institution | Kabale University |
| issn | 2666-4593 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Brain Disorders |
| spelling | doaj-art-7f7f0ea12c4f48e2bd6182f046b138952025-02-07T04:48:23ZengElsevierBrain Disorders2666-45932025-03-0117100186The role of HEPCAM in Jacobsen syndrome: A pediatric case report highlighting white matter abnormalitiesGhazaleh Ghorbannezhad0Reza Nejad Shahrokh Abadi1Farrokh Seilanian Toosi2Shima Shekari3Saeedeh Sadat Mirtooni4Narges Hashemi5Neuroscience Department, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, IranClinical Research Development Unit, Ghaem Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, IranDepartment of Radiology, School of Medicine, Mashhad University of Medical Sciences, Mashhad, IranDepartment of Pediatrics, School of Medicine, North Khorasan University of Medical Sciences, Bojnurd, IranDepartment of Neurology, School of Medicine, Mashhad University of Medical Sciences, Mashhad, IranDepartment of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran; Corresponding author.Jacobsen syndrome (JS) is a rare contiguous gene deletion disorder characterized by a deletion at the terminal end of the long arm of chromosome 11. JS has various phenotypic features, such as neurodevelopmental delays and congenital heart defects. Furthermore, deletion mutations in the long arm of chromosome 11 can also give rise to Megalocephalic Leukoencephalopathy (MLC), affecting the HEPCAM gene. The following case report presents a 9-year-old girl with JS and remarkable white matter abnormalities (WMA). Despite the complex clinical presentation with craniofacial anomalies and limb malformations, there were slow partial improvements in the WMAs over time as evidenced by sequential MRI findings. This case adds to the previously documented literature on the topic of white matter abnormalities in the context of Jacobsen syndrome, and showcases these changes after several years.http://www.sciencedirect.com/science/article/pii/S266645932500006XJacobsen syndromeWhite matter abnormalityMLCNeuro-radiology |
| spellingShingle | Ghazaleh Ghorbannezhad Reza Nejad Shahrokh Abadi Farrokh Seilanian Toosi Shima Shekari Saeedeh Sadat Mirtooni Narges Hashemi The role of HEPCAM in Jacobsen syndrome: A pediatric case report highlighting white matter abnormalities Brain Disorders Jacobsen syndrome White matter abnormality MLC Neuro-radiology |
| title | The role of HEPCAM in Jacobsen syndrome: A pediatric case report highlighting white matter abnormalities |
| title_full | The role of HEPCAM in Jacobsen syndrome: A pediatric case report highlighting white matter abnormalities |
| title_fullStr | The role of HEPCAM in Jacobsen syndrome: A pediatric case report highlighting white matter abnormalities |
| title_full_unstemmed | The role of HEPCAM in Jacobsen syndrome: A pediatric case report highlighting white matter abnormalities |
| title_short | The role of HEPCAM in Jacobsen syndrome: A pediatric case report highlighting white matter abnormalities |
| title_sort | role of hepcam in jacobsen syndrome a pediatric case report highlighting white matter abnormalities |
| topic | Jacobsen syndrome White matter abnormality MLC Neuro-radiology |
| url | http://www.sciencedirect.com/science/article/pii/S266645932500006X |
| work_keys_str_mv | AT ghazalehghorbannezhad theroleofhepcaminjacobsensyndromeapediatriccasereporthighlightingwhitematterabnormalities AT rezanejadshahrokhabadi theroleofhepcaminjacobsensyndromeapediatriccasereporthighlightingwhitematterabnormalities AT farrokhseilaniantoosi theroleofhepcaminjacobsensyndromeapediatriccasereporthighlightingwhitematterabnormalities AT shimashekari theroleofhepcaminjacobsensyndromeapediatriccasereporthighlightingwhitematterabnormalities AT saeedehsadatmirtooni theroleofhepcaminjacobsensyndromeapediatriccasereporthighlightingwhitematterabnormalities AT nargeshashemi theroleofhepcaminjacobsensyndromeapediatriccasereporthighlightingwhitematterabnormalities AT ghazalehghorbannezhad roleofhepcaminjacobsensyndromeapediatriccasereporthighlightingwhitematterabnormalities AT rezanejadshahrokhabadi roleofhepcaminjacobsensyndromeapediatriccasereporthighlightingwhitematterabnormalities AT farrokhseilaniantoosi roleofhepcaminjacobsensyndromeapediatriccasereporthighlightingwhitematterabnormalities AT shimashekari roleofhepcaminjacobsensyndromeapediatriccasereporthighlightingwhitematterabnormalities AT saeedehsadatmirtooni roleofhepcaminjacobsensyndromeapediatriccasereporthighlightingwhitematterabnormalities AT nargeshashemi roleofhepcaminjacobsensyndromeapediatriccasereporthighlightingwhitematterabnormalities |