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Hyun Woo Goo and Young-Shin Ra

Medullary hemangioblastoma is very rare in children. Based on small nodular enhancement with peritumoral edema and without dilated feeding arteries on conventional MRI, hemangioblastoma, pilocytic astrocytoma, oligodendroglioma, and ganglioglioma were included in the differential diagnosis of the medullary tumor. In this case report, the authors emphasize the diagnostic value of arterial spin labeling and dynamic contrast-enhanced MRI in demonstrating vascular tumor perfusion of hemangioblastoma in a 12-year-old boy who was later found to have von Hippel-Lindau disease.

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Hojin Park, Somin Oh, Jong Woo Choi, and Young Shin Ra

OBJECTIVE

Posterior vault distraction osteogenesis (PVDO) is an effective tool to increase intracranial volume and expand the posterior cranial fossa. During PVDO, the authors extended osteotomy posterior to the foramen magnum to fully expand the posterior cranial fossa. The aim of this study was to investigate the efficacy of complete PVDO in posterior fossa expansion and treatment of Chiari malformation type I (CM-I) in patients with craniosynostosis.

METHODS

Patients with craniosynostosis who had undergone complete PVDO between January 2012 and May 2020 were reviewed retrospectively. A coronal osteotomy extending to the foramen magnum was performed and the foramen magnum was decompressed by removing its posterior rim with a 1-mm Kerrison rongeur. Four distractor devices were placed and the vector of distraction was controlled from the posterior to the inferior-posterior direction, depending on the deformity. Changes in the intracranial volume, posterior cranial fossa area, and cerebellar tonsillar descent were measured after complete PVDO by using CT and MRI.

RESULTS

A total of 11 patients with craniosynostosis and concurrent CM-I were included in the study. The mean age was 34.6 ± 24.0 months (continuous variables are expressed as the mean ± SD throughout). One patient had sleep apnea, which was consistent with CM-I, and another patient had a headache, which was nonspecific. The intracranial volume increased from 1179.6 ± 180.2 cm3 to 1440.6 ± 251.5 cm3 (p = 0.003; 24.5% increase compared to the preoperative volume). The posterior skull base area increased from 44.9 ± 19.3 cm2 to 72.7 ± 18.1 cm2 (p = 0.004). Cerebellar tonsillar descent decreased in all 11 patients after complete PVDO (preoperative: 10.8 ± 3.7 mm, postoperative: 2.7 ± 3.0 mm; p = 0.003). Among the 11 patients, 5 showed complete resolution of cerebellar tonsillar herniation.

CONCLUSIONS

Complete PVDO can more efficiently expand the posterior cranial fossa, unlike conventional methods. Moreover, it helps to relieve cerebellar tonsillar herniation. Complete PVDO is a powerful tool to increase the intracranial and posterior fossa volumes in patients with craniosynostosis and concurrent CM-I.

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Eun-Hee Kim, Mi-Sun Yum, Young-Shin Ra, Jun Bum Park, Jae Sung Ahn, Gu-Hwan Kim, Hyun Woo Goo, Tae-Sung Ko, and Han-Wook Yoo

OBJECT

Moyamoya disease (MMD) is an idiopathic cerebrovascular occlusive disorder prevalent in East Asia. In the pathogenesis of MMD, the important role of genetic factors is being elucidated, and RNF213 has recently been identified as a susceptibility gene for MMD. The aim of this retrospective study was to investigate the RNF213 genotype in patients with MMD and to determine their genotype-phenotype associations.

METHODS

The study involved 165 Korean MMD patients from 155 unrelated families who were diagnosed with MMD at a single center from 1995 to 2013. Their demographic, radiological, and clinical findings were evaluated. Direct sequencing of the major RNF213 single nucleotide polymorphisms was performed. The association of the common RNF213 variant with MMD risk was evaluated using historical controls for comparison. Correlations between RNF213 genotype and phenotype were statistically analyzed.

RESULTS

The c.14429G>A (p.R4810K) variant was identified in 125 (75.8%) of 165 MMD patients. Most patients (112) were heterozygous, and 13 patients had 2 copies of the c.14429G>A variant. A novel heterozygous variant, c.12086A>G (p.Q4029R), was found in 1 additional patient. The minor allele frequency of the c.14429G>A variant was significantly higher in the MMD group (138 [41.8%] of 330 patients) than in the control group (8 [1.36%] of 588 subjects; p < 0.001). The c.14429G>A (p.R4810K) variant significantly increased the risk of MMD in Korean patients, with an OR of 52.11 (p < 0.001) compared with controls. Moreover, c.14429G>A (p.R4810K) genotypes occurred more frequently in patients with a family history of MMD. The homozygous variant was highly associated with early-onset MMD (age at onset < 5 years), cerebral infarction at diagnosis, and cognitive impairment in long-term outcome.

CONCLUSIONS

The findings indicate that the c.14429G>A (p.R4810K) allele of RNF213 is strongly associated with Korean patients with MMD. The homozygous c.14429G>A (p.R4810K) variant is particularly related to early-onset MMD, severe symptomatic manifestations at diagnosis, and poor prognosis. This genotypic variant may be a useful biomarker for early-onset MMD or unstable MMD with cerebral infarction, which requires early diagnosis and revascularization treatment.