Posterior intra-articular distraction technique to treat pediatric atlantoaxial instability.

PURPOSE: Surgical treatment for atlantoaxial instability in pediatric patients is challenging. We report our experience with posterior intra-articular distraction technique in treating this disorder. METHODS: This is a retrospective descriptive study which included 15 patients of atlantoaxial instability whose age was less than 16 years at the time of clinical presentation. All patients underwent anterior soft tissue released through a posterior-only approach, followed by intra-facet cage implantation, cantilever correction, and instrumentation. Clinical results were measured using the Japanese Orthopedic Association (JOA) scale and radiographic measurements including the atlantodental interval (ADI), posterior atlantodental interval (pADI), the distance of odontoid tip above Chamberlain's line, clivuscanal angle (CCA), and triangular area (TA) of craniovertebral junction. RESULTS: The follow-up period ranged from 18 to 72 months, with an average of 41.2 ± 15.2 months. The JOA score increased from 13.6 ± 2.3 to 16.6 ± 0.8. ADI decreased from 4.31 ± 2.37 to 1.85 ± 1.09 mm, and TA decreased from 261.96 ± 107.99 to 197.12 ± 72.37 mm2. pADI increased from 12.89 ± 3.52 to 18.25 ± 3.89 mm, and CCA improved from 132.19 ± 16.34 to 144.35 ± 13.91°. All changes in measurements showed statistically significant. There were no evidence of surgery-related complications or iatrogenic secondary cervical deformity during follow-up. Radiological evaluation showed satisfactory corrections and bony fusions of C1-2 facet joint in all cases. CONCLUSION: Posterior intra-articular distraction followed by cage implantation and cantilever correction can be one of the safe and effective ways to solve atlantoaxial instability in pediatric patients.

Vascular Malformations of the Spinal Cord in Children.

Vascular malformation of the spinal cord in children is a rare and complicated disease spectrum. We will start from the basic spinal cord vascular anatomy and the controversial classification of this kind of disease. Then, we will elaborate the clinical manifestations, diagnostic imaging and treatment of pediatric spinal vascular malformations based on the practical experience of our center and from literature.

De novo cerebral cavernous malformations with PIK3CA somatic mutation and EPHB4 germline mutation in a child with multiple developmental venous anomalies and cutaneous vascular malformations.

Cavernous malformations (CM) that arise in the central nervous system have long been considered congenital, while there are many reports of de novo non-familial-type CM adjacent to developmental venous anomalies (DVA) or after radiation. The mechanisms that cause de novo formations of sporadic cavernous malformation (CM) still remain unknown and purely speculative. We report a case of de novo cerebral CM in a child with multiple developmental venous anomalies and cutaneous vascular malformations. Histological examination and whole-exome sequencing (WES) was performed on a fresh-frozen tissue sample of the CM. WES revealed 2 missense non-synonymous variants in two genes, EPHB4 and PIK3CA. The mutant allele of EPHB4 (NM_004444.4: c.1840 T > C, p.Y614H) appeared in 248/469 WES reads (allele frequency, 52.88%), which suggested the mutation a germline one. PIK3CA (NM_006218.2) somatic mutations were found in exon 9: c.1624G > A (p.Glu542Lys) with variant frequency of 2.2% (2/89 WES reads). We did not find any non-synonymous mutations of the three CCM genes (KRIT1, CCM2, and PDCD10) in this patient. Our findings suggested that the combination of gain of function in PIK3CA and loss of function in EPHB4 may play an important role in the pathogenesis of CM, which can develop in acquired form like tumorigenesis.

Meningioma originating from the oculomotor nerve without dural attachment in a child.

Meningioma originating from the oculomotor nerve without dural attachment in children has been rarely reported. A 6-year-old patient presented ptosis of the right eye for 5 years. MRI indicated an occupying lesion in the right cavernous sinus. A tumor originating from the oculomotor nerve without dural attachment was found during subsequent surgery and confirmed as meningioma by pathology. Subsequently, the tumor was removed completely, and the oculomotor nerve was reconstructed using the sural nerve. The patient's symptoms were relieved partially after 3 months. The findings of this case suggested that the mechanisms underlying meningioma involve ectopic arachnoid cap cells within the nerve sheath. Thus, the tumor should be removed completely; also, nerve reconstruction is suggested.

Fourth ventricle stent placement for treatment of type I Chiari malformation in children.

INTRODUCTION: Type I Chiari malformation (CM-I) is a common congenital malformation, often accompanied by syringomyelia. Obstruction of CSF circulation in the foramen magnum is the reason for the formation of the syringomyelia. Fourth ventricle stenting (FVS) could ensure the CSF flow from the fourth ventricle, which might represent an effective approach to achieve syringomyelia relief. METHODS: We have reviewed four cases of CM-I children who received FVS implantation from November 2021 to July 2022. Each of the patients underwent FMD. The ventricular catheter of an Ommaya reservoir (Medtronic, Inc.) was used as a stent. Duraplasty was performed with autologous fascia. Cervical MRI rechecks were routinely done 3 months later, and the clinical symptoms were followed up. RESULTS: Four children received FVS, including one boy and three girls, aged from 12 months to 10 years, with a mean age of 6.8 years. No major complication occurred. The syringomyelia or hydrocephalus in each patient were all attenuated, as observed on the reexamination MRI images. During the follow-up time with a mean of 10.8 months, no patient had new symptoms. CONCLUSION: FVS is an effective and safe method for operation of CM-1 in children. The indications of FVS include redo-FMD, difficulties to ensure post-FMD CSF circulation patency at the foramen magnum and with obstructive hydrocephalus. A long-term follow-up duration is necessary.

Pediatric spinal cord diffuse midline glioma with H3 K27M-alteration with leptomeningeal dissemination: a rare case with intracranial hypertension onset and no spinal cord-related symptom.

PURPOSE: Spinal cord diffuse midline glioma (DMG) with H3 K27-alteration is a group of spinal cord high-grade glioma with poor outcome. We present a case with rare onset symptom pattern of pediatric spinal DMG, contributing to the understanding of the clinical presentations and natural history of pediatric spinal cord DMG. METHODS AND RESULTS: A 7-year-old boy was admitted due to symptoms of intracranial hypertension without obvious spinal cord-related symptoms. Head radiological examinations, blood and cerebral spinal fluid tests did not support intracranial lesion, infection, or autoimmune diseases. Spinal magnetic resonance imaging revealed intraspinal occupying lesion with leptomeningeal dissemination. Pathology of the lesion verified DMG with H3 K27M-alteration. CONCLUSION: Pediatric DMG with leptomeningeal dissemination could present with initial symptoms of intracranial hypertension without obvious spinal cord-related symptoms. Spinal cord examinations in cases of intracranial hypertension with negative head radiological examination results could be valuable in finding the etiology.

In reply to the letter to editor regarding "Fourth ventricle stent placement for treatment of type I Chiari malformation in children".

We made a reply to the letter to editor regarding "Fourth ventricle stent placement for treatment of type I Chiari malformation in children" by Prof. Afshari. He gave some comments on the primary cause of low-lying cerebellar tonsils and the risk of the fourth ventricle stent (FVS). We make further explanation of our opinion on Chiari malformation and the value of FVS.

Somatic MAP3K3 and PIK3CA mutations in sporadic cerebral and spinal cord cavernous malformations.

Cavernous malformations affecting the CNS occur in ∼0.16-0.4% of the general population. The majority (85%) of cavernous malformations are in a sporadic form, but the genetic background of sporadic cavernous malformations remains enigmatic. Of the 81 patients, 73 (90.1%) patients were detected carrying somatic missense variants in two genes: MAP3K3 and PIK3CA by whole-exome sequencing. The mutation spectrum correlated with lesion size (P = 0.001), anatomical distribution (P < 0.001), MRI appearance (P = 0.004) and haemorrhage events (P = 0.006). PIK3CA mutation was a significant predictor of overt haemorrhage events (P = 0.003, odds ratio = 11.252, 95% confidence interval = 2.275-55.648). Enrichment of endothelial cell population was associated with a higher fractional abundance of the somatic mutations. Overexpression of the MAP3K3 mutation perturbed angiogenesis of endothelial cell models in vitro and zebrafish embryos in vivo. Distinct transcriptional signatures between different genetic subgroups of sporadic cavernous malformations were identified by single cell RNA sequencing and verified by pathological staining. Significant apoptosis in MAP3K3 mutation carriers and overexpression of GDF15 and SERPINA5 in PIK3CA mutation carriers contributed to their phenotype. We identified activating MAP3K3 and PIK3CA somatic mutations in the majority (90.1%) of sporadic cavernous malformations and PIK3CA mutations could confer a higher risk for overt haemorrhage. Our data provide insights into genomic landscapes, propose a mechanistic explanation and underscore the possibility of a molecular classification for sporadic cavernous malformations.

Vascular Architecture Characters and Changes of Pediatric Moyamoya Disease after Combined Bypass Surgery.

OBJECTIVE: We aimed to analyze the angioarchitecture characters and changes after combined bypass surgery (CBS) in pediatric moyamoya disease (MMD). METHODS: We retrospectively analyzed our database of consecutive patients with moyamoya angiopathy who received treatment. Only pediatric MMD cases aged between 3 and 19 years with pre- and post-operative imaging examinations including digital subtraction angiography and magnetic resonance imaging were enrolled in this study. The main trunk vessels' stenosis and the collaterals from the superficial-meningeal system and deep parenchymal system were evaluated before and after CBS. RESULTS: During short-term follow-up period after the unilateral CBS, the stenosis of main trunk vessels both in operative (5.7 ± 2.1 vs. 6.8 ± 1.8; p < 0.001) and non-operative hemisphere (non-operative side 4.3 ± 1.9 vs. 5.7 ± 2.1; p < 0.001) progressed obviously. During the median follow-up period of 28.5 months after CBS, the decrease of posterior cerebral artery middle cerebral artery (PCA-MCA) anastomoses was much more significant (26 vs. 6, p < 0.001) than that of the PCA anterior cerebral artery anastomoses (18 vs. 19, p = 0.807). Meanwhile, the subependymal anastomotic network could be relieved obviously (27 vs. 2, p < 0.001), while the inner thalamic and striatal anastomotic network showed no significant change (31 vs. 25, p = 0.109). CONCLUSIONS: The successful CBS could decrease the collaterals from the PCA-MCA leptomeningeal system and the subependymal compensations in deep parenchyma significantly, while the main trunk stenosis would aggravate rapidly both in operative and non-operative hemisphere in short-term follow-up after unilateral CBS. Therefore, strict and regular follow-ups for the changes of vascular architecture and prompt surgical intervention for the contralateral side might be of benefit to pediatric MMD.

Abscess of the cavernous sinus in a child: a case report.

BACKGROUND: The cavernous sinus, which has several important structures, can be affected by various lesions, including tumor, vascular, infection, and inflammation. CASE REPORT: We reported a rare case of abscess of the cavernous sinus in a child presenting with headache and abducens paralysis. Exploratory surgery was performed via the Dolenc approach, and the patient recovered from abducens paralysis 3 months later. CONCLUSION: Abscess of the cavernous sinus is rare.  Inspection of cavernous sinus can confirm the characteristics of the lesion and decompress the cavernous sinus, which may be beneficial for nerve function recovery.

Treatment of spontaneous spinal epidural hematoma in children: analysis of 25 cases.

INTRODUCTION: Spontaneous spinal epidural hematoma (SSEH) is a rare neurosurgical emergency, presenting as sudden onset of back pain and weakness of lower extremities. Many patients have no definite cause. Some cases of SSEH caused by vascular malformation have been reported. The treatment strategy remains controversial. This study aimed to analyze the causes of SSEH and proposed a treatment strategy according to clinical outcomes of patients at a single institution. METHODS: A total of 25 cases of SSEH under 18 years of age treated between March 2004 and July 2021 were retrospectively analyzed. RESULTS: The mean age of the first SSEH onset was 7.1 years. The most common location was cervicothorax. Nine patients suffered from multiple episodes. Twenty-three patients underwent spinal digital subtraction angiography (DSA), of which seven (30.4%) patients had positive findings: three cases had epidural artery venous fistula (AVF), two cases had epidural artery venous malformation (AVM), and two cases had abnormal concentration of contrast agent. Seventeen patients received surgery. Eleven patients (44%) were diagnosed as vascular malformation by either DSA or pathology. The follow-up rate was 80%, with 20 patients (80%) achieving satisfactory clinical outcome. Risk factors for poor clinical outcome included multiple episodes (p = 0.028) and higher Aminoff-Logue score (p = 0.005). CONCLUSION: Spinal epidural vascular malformation is a significant cause of SSEH. Spinal DSA is necessary. Surgery should be recommended for patients with multiple episodes, positive findings on DSA, or severe neurological deficits. Conservation therapy can be considered for other patients, but long-time follow-up is necessary.

Analysis of the risk factors of post-operative seizure in pediatric patients with hydrocephalus undergoing endoscopic third ventriculostomy.

OBJECTIVE: The cause and mechanism of epilepsy after endoscopic third ventriculostomy (ETV) have still remained elusive. This single-center study aimed to explore and analyze the risk factors of post-operative seizure in pediatric patients with hydrocephalus undergoing ETV. METHODS: Data of pediatric patients with hydrocephalus who were treated with ETV from October 1, 2015, to November 31, 2021, were retrospectively analyzed. Basic demographic characteristics, etiology of hydrocephalus, surgical details, and laboratory measurements were collected. An early postoperative seizure was defined as the occurrence of at least one clinical seizure within 24 h of ETV. RESULTS: A total of 50 participants were included in the study, of whom 5 (10.00%) cases were in postoperative epilepsy group and 45 (90.00%) cases were in non-epilepsy group. Epilepsy patients were younger than those without epilepsy, while no statistically significant difference was found (P = 0.0836). In the age subgroup, children with epilepsy were younger than 2 years old. All patients with epilepsy received Ringer's solution intraoperatively. The mean postoperative serum calcium and potassium concentrations were significantly lower in patients with epilepsy than in those without epilepsy (Pcalcium = 0.0429; Ppotassium = 0.0250). Moreover, a faster decrease of serum potassium and calcium levels was found in children with epilepsy compared with those without epilepsy after ETV. CONCLUSION: The decrease of serum calcium and potassium levels, younger age, and using Ringer's solution as irrigation fluid were risk factors for epilepsy after ETV.

Pediatric Cerebral Meningioma: A Single-Center Study with 10 Children Not Associated with Neurofibromatosis Type 2 and Literature Review.

INTRODUCTION: Pediatric meningiomas (PMs) are rare tumors; they differ from their adult counterparts by their atypicality of location, higher rates of malignant change, male preponderance, recurrence, and sometimes, their association with neurofibromatosis. This case series analyzes the clinical behavior, pathological presentation, location, and its association with neurofibromatosis type 2 (NF2). METHODS: This case series consists of pediatric patients between the ages of 4 and 16 years who were hospitalized in the neurosurgical department of our hospital from 2012 to 2021 with different neurological symptoms and a literature review using the PubMed/MEDLINE database. RESULTS: Sixty percent of the patients were males, while 40% were females. The most common neurological manifestations were signs of increased intracranial pressure. NF2 was absent in all patients. The predominant histopathology subtypes are atypical and WHO grade II, representing 30% and 40%, respectively. CONCLUSION: This study supports the relationship between NF2 and pediatric cerebral meningioma but at a lower concomitant rate from 0 to 13%, taking into consideration our original data and the literature review, contrasting some reported cases, which suggest rates as high as 33%, 50%, and 100% in a very small number of patients. Gross total resection without postoperative radiation therapy for nonmalignant and non-NF2-associated PM proved to be a sufficient and a good treatment option.

Opinion for different centers: surgical experience with Chiari malformation type I in children at Xuanwu Hospital, China.

PURPOSE: To evaluate the presenting symptoms, surgical strategy, and outcome in children with Chiari malformation type I (CM-I). METHODS: The medical records of children who were diagnosed with CM-I under 14 years old and subsequently underwent surgery for CM-I between 2014 and 2018 were reviewed. The medical records for presentation, radiological image, surgical intervention, and outcome were evaluated. RESULTS: Twelve children with CM-I and syringomyelia were included. All of the children were symptomatic. The most common presenting symptom was weakness, followed by scoliosis. All of them underwent posterior fossa decompression with/without duraplasty. Relief of preoperative pathologies and syringomyelia was experienced by all of them. CONCLUSIONS: The presenting symptoms of CM-I in children may be neurological deficits and scoliosis, which have a relationship with syringomyelia. Early recognition and a tailored operative procedure of CM-I in children could lead to good outcomes. Additional therapies for syringomyelia and scoliosis could be avoided.

Visceral adipose tissue-derived serine protease inhibitor accelerates cholesterol efflux by up-regulating ABCA1 expression via the NF-κB/miR-33a pathway in THP-1 macropahge-derived foam cells.

Atherosclerosis is a dyslipidemia disease characterized by foam cell formation driven by the accumulation of lipids. Visceral adipose tissue-derived serine protease inhibitor (vaspin) is known to suppress the development of atherosclerosis via its anti-inflammatory properties, but it is not yet known whether vaspin affects cholesterol efflux in THP-1 macrophage-derived foam cells. Here, we investigated the effects of vaspin on ABCA1 expression and cholesterol efflux, and further explored the underlying mechanism. We found that vaspin decreased miR-33a levels, which in turn increased ABCA1 expression and cholesteorl efflux. We also found that inhibition of NF-κB reduced miR-33a expression and vaspin suppressed LPS-mediated NF-κB phosphorylation. Our findings suggest that vaspin is not only a regular of inflammasion but also a promoter of cholesterol efflux.

Management and Outcome of Ventricular Septal Rupture Complicating Acute Myocardial Infarction: What Is New in the Era of Percutaneous Intervention?

BACKGROUND: Postinfarction ventricular septal rupture (PI-VSR) is a rare but devastating complication of acute myocardial infarction (AMI). Risk stratification in the acute phase is crucial for decision-making, and this study analyzed the risk factors for early mortality and the effects of various management options on the outcome of PI-VSR patients in the era of percutaneous intervention. METHODS: A total of 96 patients with PI-VSR were identified and divided into an acute-phase survivor group (n = 46, survived ≥2 weeks after admission) and a nonsurvivor group (n = 50, died within 2 weeks after admission). Percutaneous closure was considered in acute-phase survivors. Patients were followed up for a mean 47 (quartiles 15-71) months by clinical visit or telephone interview. RESULTS: The overall acute-phase (i.e., < 2 weeks after the diagnosis of PI-VSR) mortality rate was 52%. Female sex and Killip Class III-IV at admission were associated with an increased risk of acute-phase death. Of the 46 patients who survived ≥2 weeks, 20 underwent interventional occlusion and the procedure was successful in 19. Percutaneous closure in the acute-phase survivor group improved the immediate (21% in-hospital mortality rate) and long-term (53% mortality) outcomes. CONCLUSIONS: Patients with PI-VSR are at a high risk of acute-phase mortality. Female sex and severe cardiac dysfunction at admission are linked with a high rate of acute-phase deaths. Percutaneous closure in acute-phase survivors results in favorable short- and long-term benefits for PI-VSR patients.

A congenital external carotid artery-external jugular vein arteriovenous fistula was successfully treated by coil embolization (case report and literature review).

OBJECT: Congenital arteriovenous fistula involving the external carotid system is rare. METHODS: This paper reports a case of congenital external carotid artery-external jugular vein arteriovenous fistula admitted to Xuanwu Hospital, and reviews the literature. RESULTS: The patient was a boy, 9 years old, with a history of pulsatile mass and thrill in the right neck since his birth. External carotid artery-external jugular vein fistula was confirmed by the digital subtraction angio-graphy. And coil embolization was done later. Postoperative immediate angiography confirmed the complete occlusion of the fistula, and partial branch of the external carotid artery can be seen. The abnormal clinical manifestation disappeared after the procedure without any complications. CONCLUSION: This case and relevant literatures remind us that congenital external carotid artery-external jugular vein arteriovenous fistula has its unique features, and it can be treated by coil embolization safely and effectively.

Pediatric thoracic SCIWORA after back bend during dance practice: a retrospective case series and analysis of trauma mechanisms.

PURPOSE: The purpose of the study was to describe a unique type of low-energy traumatic pediatric thoracic spinal cord injury without radiographic abnormality (SCIWORA) after a back bend during dance practice and analyze the trauma mechanisms and treatment protocols. METHODS: This was a retrospective case series from September 2007 to August 2016. The study was conducted at a tertiary medical center in Beijing, China (Xuanwu Hospital, China International Neuroscience Institute [China-INI], Capital Medical University). A total of 12 pediatric patients who had a clear traumatic history after back bend movements and had been diagnosed with thoracic SCIWORA were included. Clinical and imaging data were obtained for each patient. The follow-up data was analyzed. The traumatic mechanisms were investigated by analyzing the patients' medical history, spinal diffusion tensor imaging (DTI) and fiber tractography data. RESULTS: Of the 12 patients, 11 (91.7%) were younger than 8 years old. The mean age of the patients was 6.6 years. All patients had a clear traumatic history of severe thoracic spinal cord injury after performing back bend movements. The mean follow-up time was 36.5 months. During the follow-up period, 1 patient (8.3%) recovered completely, and 11 patients (91.7%) had unfavorable prognoses, including 4 (33.3%) with incomplete recovery and 7 (58.3%) with no change. Two patients underwent spinal DTI, which showed rupture of the nerve fiber bundle in the section of the injury. CONCLUSIONS: Back bend movements performed during dance practice may cause pediatric thoracic SCIWORA, particularly in children younger than 8 years old. We suggest that the mechanism of primary injury is the longitudinal distraction of the thoracic spine during back bend movements, which leads to violent distraction of the spinal cord and blunt injury of nerve axons, nerve cells, and small vessels. Spinal DTI may facilitate the diagnosis and prognostic evaluation of SCIWORA.

Reconstruction of Skin Defects on the Mid and Lower Face Using Expanded Flap in the Neck.

BACKGROUND: The reconstruction of major burn and other deformities resulting from significant soft tissue deficits of the face is a continuing challenge for surgeons. In the study, the authors introduce our 5-year experiences using expanded flap in the neck for reconstruction on the mid and lower face. METHODS: From 2008 and 2013, 12 tissue expanders were used in 12 patients for face resurfacing. The operation consisted of 2 steps. In the first step, the expander was placed subcutaneously under the skin of the neck and they were expanded timely to create adequate superfluous skin and soft tissue. In the second step, the expanded flap was transferred to reconstruct the defects on the mid and lower face after excision of the lesions. RESULTS: All 12 patients with lesions on the mid and lower face underwent successful facial resurfacing with the described technique in the last 5 years. The follow-up ranged from 6 to 24 months. Flaps did not shrink after the operations, and subsequent contractures did not recur. The cervicomental angle appeared normal. All flaps survived well except 2 patients developed slight necrosis at the distal edge and no other major complication was observed. Esthetic outcomes were rated to be very good in 10 patients (83.3%) and good in 2 patients (16.7%). CONCLUSION: The application of expanded flaps in the neck is proved to be an effective way of repairing facial defects on the mid and lower face. The technique is remarkably reliable in resurfacing the peripheral facial esthetic units.

[Serum amyloid A promotes the inflammatory response via p38-MAPK/SR-BI pathway in THP-1 macrophages].

To investigate the effect and mechanism of serum amyloid A (SAA) on the expression of scavenger receptor class B type I (SR-BI) and inflammatory response in THP-1 macrophages, the human THP-1 cells were treated with SAA and p38-MAPK agonist (anisomycin) or p38-MAPK inhibitor (SB203580). Then, the expressions of SR-BI, phosphorylated p38-MAPK and inflammatory factors (MCP-1, TNF-α, IL-1ß) were examined by real-time quantitative PCR, Western blotting and ELISA, respectively. The results showed that, compared with control group, SAA increased the levels of inflammatory factors (MCP-1, TNF-α, IL-1ß), down-regulated the expressions of SR-BI, and up-regulated the expression of phosphorylated p38-MAPK protein in a concentration- and time-dependent manner in THP-1 cells (P < 0.05). After treatment with SAA and p38-MAPK agonist (anisomycin) in THP-1 cells, the expression of SR-BI was down-regulated, and the levels of inflammatory factors and phosphorylated p38-MAPK protein expression were increased, compared with the group only treated by SAA (P < 0.05). In contrast, the SR-BI expression was up-regulated, whereas inflammatory factors and phosphorylated p38-MAPK protein expressions were decreased after the cells were treated with SAA and p38-MAPK inhibitor (SB203580) (P < 0.05). The results suggest that SAA-promoted inflammatory response in THP-1 macrophages may be through the phosphorylation of p38-MAPK and inhibition of SR-BI expression.