White matter abnormality in Jacobsen syndrome assessed by serial MRI

Fujino, Shuhei; Yoshihashi, Hiroshi; Takeda, Ryojun; Ihara, Satoshi; Miyama, Sahoko

doi:10.1016/j.braindev.2020.05.001

Cited by 6 publications

(6 citation statements)

References 10 publications

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“…Children with coronal and metopic synostosis were much more likely to get preoperative CT scans than those with sagittal synostosis, but there still were some who did not get scanned. It has long been our practice to screen children with trigonocephaly for rare brain anomalies and malformations, which can be associated with trigonocephaly syndromes such as the 9p deletion syndrome and Jacobsen syndrome 37,38. In these children we often ordered CTs rather than magnetic resonance imaging to take advantage of the opportunity to look at the sutures.…”

Section: Discussionmentioning

confidence: 99%

“…It has long been our practice to screen children with trigonocephaly for rare brain anomalies and malformations, which can be associated with trigonocephaly syndromes such as the 9p deletion syndrome and Jacobsen syndrome. 37,38 In these children we often ordered CTs rather than magnetic resonance imaging to take advantage of the opportunity to look at the sutures. We also obtained preoperative CT scans in children with suspected syndromic and/or multisutural synostosis.…”

Section: Computed Tomography In Craniosynostosismentioning

confidence: 99%

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Fusion of Lateral Calvarial Sutures on Volume-Rendered Computed Tomography Reconstructions in Patients With Known Craniosynostosis

Wilkinson

Belanger

Elbadry

et al. 2023

Journal of Craniofacial Surgery

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Introduction: After treating a child with familial sagittal craniosynostosis, clinocephaly, and bilateral parietomastoid/posterior squamosal suture fusion, the authors wondered if major-suture synostosis and clinocephaly were associated with abnormal fusion of minor lateral calvarial sutures. Methods: The authors reviewed all preoperative volume-rendered head computed tomography reconstructions performed for craniosynostosis at their institution from 2010 through 2014 and determined whether the sphenoparietal, squamosal, and parietomastoid sutures were open, partially fused, or fused. The authors determined whether any sutures were abnormally fused based upon a previous study from their center, in which abnormal fusion was defined as either 1 of 3 abnormal fusion patterns or abnormally-early fusion. The authors then determined the rate of abnormal fusion of these sutures and whether abnormal fusion was associated with (1) major-suture craniosynostosis, (2) type of craniosynostosis (sutures involved; single-suture versus multisuture; syndromic versus nonsyndromic), and (3) clinocephaly. Results: In 97 included children, minor lateral sutures were abnormally fused in 8, or 8.2%, which was significantly higher than in children without craniosynostosis from our earlier study. Abnormal minor lateral suture fusion was not associated with the type of single-suture synostosis or with multisuture synostosis but was associated with syndromic synostosis. Four of 8 children with abnormal minor lateral suture fusion had multisuture synostosis and 6 had syndromic synostosis. Lateral sutures were abnormally fused in 1 of 4 subjects with clinocephaly, which was not significant. Conclusion: Abnormal minor lateral calvarial suture fusion is significantly associated with major-suture craniosynostosis, especially syndromic synostosis.

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Section: Discussionmentioning

confidence: 99%

Section: Computed Tomography In Craniosynostosismentioning

confidence: 99%

Fusion of Lateral Calvarial Sutures on Volume-Rendered Computed Tomography Reconstructions in Patients With Known Craniosynostosis

Wilkinson

Belanger

Elbadry

et al. 2023

Journal of Craniofacial Surgery

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“…Brain MRI taken before the age of 2 years shows more extensive or diffuse white matter changes. In contrast, after 2 years of age, white matter changes are mostly mild or partial [5]. White matter abnormalities and progression of myelination improve over time.…”

mentioning

confidence: 92%

“…HEPACAM is the causative gene in megalencephalic leukoencephalopathy with subcortical cysts (MLC) type 2A and 2B. MLC is characterized by chronic white matter edema, macrocephaly, and subcortical cysts [5]. Although Jacobsen syndrome does not present other features of MLC except white matter edema, HEPACAM haploinsufficiency in Jacobsen syndrome might have a potential role in the pathogenesis of white matter changes.…”

mentioning

confidence: 99%

“…Although Jacobsen syndrome does not present other features of MLC except white matter edema, HEPACAM haploinsufficiency in Jacobsen syndrome might have a potential role in the pathogenesis of white matter changes. Fujino et al [5] documented serial white matter changes from the neonatal period to young childhood. Brain MRI taken before the age of 2 years shows more extensive or diffuse white matter changes.…”

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confidence: 99%

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Jacobsen Syndrome with White Matter Changes

et al. 2021

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Jacobsen syndrome is a rare genetic disorder caused by partial deletions in the long arm of chromosome 11. The deletion size ranges from 7 to 20 Mb, with a breakpoint at 11q23.3, in 70% to 80% of cases. Affected individuals can express a wide variety of phenotypes, including delayed physical growth and psychomotor development, dysmorphic features, congenital heart malformations, and thrombocytopenia [1,2]. Few reports have described white matter abnormalities in Jacobsen syndrome. Herein, we describe a case of a boy diagnosed with Jacobsen syndrome with white matter abnormalities on brain magnetic resonance imaging (MRI). This study was reviewed and approved by the Institutional Review Board of the Gachon University Gil Hospital (GFIRB 2020-458). Due to its retrospective nature, the study was exempt from requiring informed consent from the participants.A 6-day-old neonate was brought to our institution because of jaundice. He was born at 37 weeks of gestation without perinatal asphyxia. His birth weight was 2,980 g (22nd percentile), height was 46 cm (2nd percentile), and head circumference was 33 cm (13th percentile). Physical examination revealed a cephalohematoma. Laboratory tests showed hyperbilirubinemia, hypothyroidism, neutropenia, and thrombocytopenia. The total bilirubin level was 25.5 mg/ dL. The white blood cell count was 2,070/μL, hemoglobin was 10.7 g/dL, and platelet count

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