Two Cases of Children With Black Hairy Tongue and Tooth Discoloration Caused by Antibacterial Agents.

Black hairy tongue (BHT) is a lesion in which the filiform papillae of the tongue are significantly extended by hyperkeratosis, thereby giving the tongue a hairy appearance. Here, we report two rare cases of children with BHT and tooth discoloration caused by antimicrobial agents. Case 1: A four-year-old female patient received intravenous linezolid after spinal surgery, and BHT developed on day eight of treatment. Subsequently, the patient developed teeth discoloration. Linezolid was continually administered for 50 days, and BHT and teeth discoloration improved 10 days after the end of linezolid treatment. Case 2: A two-year-old male patient with a brain abscess received intravenous meropenem and vancomycin. On the fourth day of treatment, BHT developed, and teeth discoloration was subsequently observed. Antibiotic therapy was continued for 82 days, and BHT and tooth discoloration improved 20 days after the treatment was discontinued.

Indirect revascularization for pediatric moyamoya disease.

OBJECTIVE: Indirect revascularization is a common and effective treatment for pediatric moyamoya disease. However, in several cases postoperative angiogenesis is not sufficient. It is not fully understood which factors are involved in the development of postoperative collateral circulation. In this study, the authors aimed to elucidate the factors related to postoperative angiogenesis in indirect revascularization. METHODS: Among the patients who underwent indirect revascularization for moyamoya disease from January 2015 to December 2022, those whose angiogenesis was evaluated using angiography were included. Age, onset symptoms, comorbidities, preoperative imaging findings, surgical details, perioperative complications, postoperative imaging findings, and modified Rankin Scale (mRS) score at the last outpatient visit were retrospectively examined. RESULTS: Ninety cases (53 patients; 37 bilateral, 16 unilateral) were included. Sixty-eight cases (75.6%) were symptomatic. The mean age at surgery was 7.9 years, and the mean postoperative follow-up duration was 48.5 months. Frontotemporal encephalo-duro-arterio-synangiosis (EDAS) was performed in all cases, and simultaneous frontal encephalo-galeo-synangiosis (EGS) was performed in 34 cases. Postoperative angiography revealed insufficient angiogenesis in 14 of 90 cases (15.6%) after frontotemporal EDAS and in 8 of 34 cases (23.5%) after frontal EGS. A high degree of ivy sign depicted on preoperative MRI was found to be significantly correlated with good angiogenesis after both surgical procedures (p = 0.00030 for EDAS and p = 0.0039 for frontal EGS). In addition, an advanced preoperative Suzuki stage was significantly correlated with good postoperative angiogenesis after EDAS (p = 0.00040). Good angiogenesis was significantly correlated with postoperative improvement of the ivy sign in both procedures (p = 0.0005 in EDAS and p = 0.030 in frontal EGS) as well as correlated with a better mRS score at long-term follow-up after EDAS (p = 0.018). CONCLUSIONS: Preoperative ivy sign and Suzuki classification are related to the degree of angiogenesis achieved after indirect revascularization for pediatric moyamoya disease.

Alteration of major venous drainage routes in a patient with achondroplasia after ventriculoperitoneal shunt placement.

Achondroplasia is the most common form of dwarfism, caused by a mutation in fibroblast growth factor receptor 3 gene, leading to multiple pathological conditions. Herein, we present a case of an infant with achondroplasia associated with hydrocephalus and severe foramen magnum stenosis. Computed tomography (CT) venography showed prominent suboccipital emissary veins comprising major venous drainage routes and hypoplastic transverse sinuses, which increased the risk of foramen magnum decompression. The infant was initially treated with ventriculo-peritoneal (VP) shunt. After 8 months, CT venography showed regression of suboccipital emissary veins and more prominent transverse sinuses. Subsequently, foramen magnum decompression was safely performed without sacrificing major venous drainage routes.

Atretic cephalocele associated with sinus pericranii: a single-center analysis.

PURPOSE: The purpose of this report is to investigate the association of atretic cephalocele (AC) with sinus pericranii (SP) in order to improve the management of AC. METHODS: Pediatric patients with AC who underwent repair surgeries were retrospectively analyzed. Anomalies including SP were evaluated using computed tomography angiography and venography (CTA/V) as well as magnetic resonance imaging. RESULTS: Fourteen patients were identified, comprising of 5 males and 9 females. The AC was located interparietally in 8 cases and occipitally in 6 cases. Seven cases (50%) were found to be associated with SP, all of which did not involve major intracranial venous circulation. Five out of 8 parietal ACs (63%) were accompanied by SP, while 2 out of 6 occipital ACs (33%) exhibited SP. All of the SP associated with AC only contributed to a small portion of the venous outflow, and the repair surgeries were successfully performed without excessive bleeding. CONCLUSION: More than half of the ACs were associated with SP, with a higher prevalence in the parietal region compared to the occipital region. For the appropriate management of AC, preoperative investigation of SP using CT venography is considered important.

Cranial distraction osteogenesis for craniosynostosis associated with osteopetrosis: A case report.

Background: Osteopetrosis is a rare disease characterized by systemic osteosclerosis and hematopoietic disturbances. Childhood-onset cases are often accompanied by hydrocephalus and craniosynostosis; however, there have been no established treatments. We performed cranial distraction in a child with osteopetrosis who presented with craniosynostosis and intracranial hypertension. Case Description: The patient was a 4-year-1-month-old boy. His pregnancy and birth were normal, but at 4 months of age, he was diagnosed with osteopetrosis based on generalized osteosclerosis and family history. A computed tomography scan of the head revealed early sagittal suture fusion and ventricular enlargement. A ventriculoperitoneal shunt was placed for intracranial hypertension; however, slit ventricle syndrome ensued and pansynostosis developed. To improve uncontrolled high intracranial pressure, cranial distraction was performed for intracranial volume expansion. No perioperative hemorrhagic or infectious complications were observed. After the start of distraction, the intracranial pressure gradually decreased, and clinical findings such as disturbance of consciousness and bradycardia disappeared. Bone regeneration in the defect site was good, and the extension device was removed 6 months after the operation. Conclusion: For osteopetrosis with poorly controlled intracranial hypertension, cranial distraction was considered to be an effective treatment.

Pineal/germ cell tumors and pineal parenchymal tumors.

INTRODUCTION: Pineal region tumors (PRTs) are tumors arising from the pineal gland and the paraspinal structures. These tumors are rare and heterogeneous that account for 2.8-10.1% and 0.6-3.2% of tumors in children and in all ages, respectively. Almost all types and subtypes of CNS tumors may be diagnosed in this region. These tumors come from cells of the pineal gland (pinealocytes and neuroglial cells), ectopic primordial germ cells (PGC), and cells from adjacent structures. Hence, PRTs are consisted of pineal parenchyma tumors (PPTs), germ cell tumors (GCTs), neuroepithelial tumors (NETs), other miscellaneous types of tumors, cystic tumors (epidermoid, dermoid), and pineal cyst in addition. The symptoms of PRTs correlate to the increased intracranial cranial pressure due to obstructive hydrocephalus and dorsal midbrain compression. The diagnostic imaging studies are mainly MRI of brain (with and without gadolinium) along with a sagittal view of whole spine. Serum and/or CSF AFP/ß-HCG helps to identify GCTs. The treatment of PRTs is consisted of the selection of surgical biopsy/resection, handling of hydrocephalus, neoadjuvant and/or adjuvant therapy according to age, tumor location, histopathological/molecular classification, grading of tumors, staging, and threshold value of markers (for GCTs) in addition. METHODS: In this article, we review the following focus points: 1. Background of pineal region tumors. 2. Pineal GCTs and evolution of management. 3. Molecular study for GCTs and pineal parenchymal tumors. 4. Review of surgical approaches to the pineal region. 5. Contribution of endoscopy. 6. Adjuvant therapy (chemotherapy, radiotherapy, and combination). 7. RESULTS: In all ages, the leading three types of PRTs in western countries were PPTs (22.7-34.8%), GCTs (27.3-34.4%), and NETs (17.2-28%). In children and young adults, the leading PRTs were invariably in the order of GCTs (40-80.5%), PPTs (7.6-21.6%), NETs (2.4-37.5%). Surgical biopsy/resection of PRTs is important for precision diagnosis and therapy. Safe resection with acceptable low mortality and morbidity was achieved after 1970s because of the advancement of surgical approaches, CSF shunt and valve system, microscopic and endoscopic surgery. Following histopathological diagnosis and classification of types and subtypes of PRTs, in PPTs, through molecular profiling, four molecular groups of pineoblastoma (PB) and their oncogenic driver were identified. Hence, molecular stratified precision therapy can be achieved. CONCLUSION: Modern endoscopic and microsurgical approaches help to achieve precise histopathological diagnosis and molecular classification of different types and subtypes of pineal region tumors for risk-stratified optimal, effective, and protective therapy. In the future, molecular analysis of biospecimen (CSF and blood) along with AI radiomics on tumor imaging integrating clinical and bioinformation may help for personalized and risk-stratified management of patients with pineal region tumors.

Spinal Subarachnoid Hematoma After Cardiac Angiography in an Infant: A Case Report.

Spinal subarachnoid hematoma may result in sequelae such as bilateral lower extremity paralysis and vesicorectal disturbances. Although spinal subarachnoid hematoma is rare in infants, early intervention has been suggested to improve neurological prognosis. Therefore, clinicians are encouraged to make early diagnosis and surgical intervention. A 22-month-old boy was prescribed aspirin for a congenital heart disease. A routine cardiac angiography was performed under general anesthesia. Fever and oliguria developed on the next day, followed by flaccid paralysis of the lower limbs four days later. Five days later, he was diagnosed with spinal subarachnoid hematoma and associated spinal cord shock. Even after emergent posterior spinal decompression, hematoma removal, and rehabilitation, the patient remained with bladder rectal disturbance and flaccid paralysis of both lower limbs. Diagnosis and treatment of this case were delayed mainly because of his difficulty to complain of back pain and paralysis. The neurogenic bladder was one of the first neurological symptoms in our case, so it may be important to consider spinal cord involvement in infants with bladder compromise. Risk factors for spinal subarachnoid hematoma in infants are largely unknown. The patient had undergone a cardiac angiography the day before the onset of the symptoms, which may be related to subarachnoid hematoma. However, similar reports are scarce, with only one case of spinal subarachnoid hematoma reported in an adult following cardiac catheter ablation. Accumulation of evidence regarding risk factors for subarachnoid hematoma in infants is warranted.

Prevention of retethering in untethering surgery of a tight filum terminale.

OBJECTIVE: Untethering surgery for a tight filum terminale is a common treatment with considerable efficacy and safety. On the other hand, retethering has been reported to occur. One of the major mechanisms of retethering is adherence of the cut end of the sectioned filum to the midline dorsal dural surface. To prevent retethering, the authors sectioned a filum terminale at the rostral level to the dural incision to keep the distance between the cut end of the sectioned filum and the dural incision and investigated whether this procedure decreased the occurrence of retethering. METHODS: Among the patients who underwent untethering surgery for a tight filum terminale between 2012 and 2016, patients followed up more than 5 years were included in the study. Symptoms, comorbid malformations, preoperative imaging, surgical details, perioperative complications, and long-term outcomes were reviewed retrospectively. RESULTS: Retrospective data for a total of 342 cases were included. The median age at surgery was 11 months (range 3-156 months). Preoperative MRI revealed 254 patients (74.3%) had a low-set conus. There were 142 patients (41.5%) with filar lipoma and 42 patients (12.3%) with terminal cyst. Syringomyelia was found in 29 patients (8.5%). In total, 246 patients (71.9%) were symptomatic and 96 patients (28.1%) were asymptomatic. There were no perioperative complications that required surgical intervention or prolonged hospitalization. The mean postoperative follow-up was 88 months (range 60-127 months). There were 4 patients (1.2%) with retethering who presented with bladder and bowel dysfunction. The mean time from initial untethering to retethering was 54 months (range 36-80 months). All 4 patients underwent untethering surgery, and preoperative symptoms resolved in 3 patients. CONCLUSIONS: The retethering rate after untethering surgery for a tight filum terminale in our series was lower than those in previously reported studies. Sectioning the filum terminale at the rostral level to the dural incision was considered an effective way to prevent retethering.

Evaluation of radiation dose reduction in head CT using the half-dose method.

PURPOSE: The present study introduced the half-dose method (HDM), which halves the radiation dose for conventional head computed tomography (CT), for postoperative hydrocephalus and follow-up for craniosynostosis at a children's hospital. This study aimed to evaluate the contribution of selective head CT scanning optimization towards the overall reduction of radiation exposure. MATERIALS AND METHODS: We retrospectively assessed 1227 and 1352 head CT examinations acquired before and after the introduction of the HDM, respectively, in children aged 0-15 years. The radiation exposure was evaluated using the CT dose index volume (CTDI-vol), dose-length product (DLP), rate of HDM introduction, and effect of reducing in-hospital radiation dose before and after the introduction of the HDM. For an objective evaluation of the image quality, head CT scans acquired with HDM and full-dose method (FDM) were randomly selected, and the image noise standard deviation (SD) was measured for each scan. In addition, some HDM images were randomly selected and independently reviewed by two radiologists. RESULTS: The HDM was introduced in 27.9% of all head CTs. The mean CTDI-vol of all head CTs was 21.5 ± 6.9 mGy after the introduction, a 14.9% reduction. The mean DLP was 418.4 ± 152.9 mGy.cm after the introduction, a 17.2% reduction. Compared to the FDM images, the noise SD of the HDM ones worsened by almost 0.9; however, none of the images were difficult or impossible to evaluate. CONCLUSION: The HDM yielded diagnostically acceptable images. In addition, a change in protocol for only two diseases successfully reduced the patients' overall radiation exposure by approximately 15%. Introducing and optimizing the HDM for frequently performed target diseases will be useful in reducing the exposure dose for the hospital's patient population.

Longstanding overt ventriculomegaly diagnosed in adolescents, not adults: a pediatric case report.

BACKGROUND: Longstanding overt ventriculomegaly in adults (LOVA) is a new form of progressive hydrocephalus characterized by onset in early childhood and gradual progression into adulthood. Patients with LOVA are usually asymptomatic in childhood. The diagnosis of LOVA in adolescence has not been reported. CASE REPORT: A patient with macrocephaly and mild ventriculomegaly from infancy developed headache exacerbation and cognitive dysfunction at the age of 11 years. Brain magnetic resonance imaging showed mild tri-ventriculomegaly with no radiological aggravation compared to imaging at the age of 8 years. No papilledema was observed. Drainage of 15 ml of spinal fluid via a lumbar puncture relieved the headache and cognitive dysfunction. Based on repeated improvements in cognitive function and headaches after spinal fluid drainage, we diagnosed the patient with LOVA with symptom onset in early adolescence. A ventriculoperitoneal shunt was placed, and the headaches disappeared completely. The full-scale intellectual quotient, verbal comprehension, and working memory improved significantly. CONCLUSIONS: LOVA may manifest as early as adolescence. The clinical presentation, age, clinical, radiological features, and management vary, and a spinal tap exam is useful for diagnosing LOVA, even in children. The spinal tap exam may be indicated in children with longstanding ventriculomegaly and deteriorating neurological symptoms to diagnose this "treatable intellectual disability."

Second-look surgery for pineal region tumors.

PURPOSE: Surgical resection of pineal region tumors is challenging because of close proximity to the vein of Galen draining system and the quadrigeminal plate. Surgical resection usually is performed through the narrow corridor by piecemeal resection and en bloc resection is difficult in cases of large tumors. Moreover, in cases of hypervascular tumors, surgical resection through the narrow corridor could entail massive intraoperative bleeding. The effectiveness of neoadjuvant chemotherapy and second-look surgery for pineal region tumors for maximal safe resection was evaluated. METHODS: Retrospective institutional review of pediatric patients with pineal region tumors who underwent second look surgery after neoadjuvant chemotherapy was performed. RESULTS: Nine patients underwent surgical resection after neoadjuvant chemotherapy over the period of September 2017 to February 2022. The mean age was 7.7 years (ranged from 1.4 to 15.3 years). Three patients underwent partial resection via open craniotomy, and 6 underwent endoscopic biopsy as an initial surgery. The histopathological diagnoses were germ cell tumors in 5 patients (yolk sac tumors in 2, germinoma in 2, choriocarcinoma in 1), /rhabdoid tumor (AT/RT) in 2, medulloblastoma in 1, and high-grade glioneuronal tumor in 1. After several courses of chemotherapy, the second-look surgery was performed. The tumor volume was reduced in 8 patients (89%) after chemotherapy except for 1 case of growing teratoma syndrome. The tumor was extended laterally to the ambient cistern in 2 patients, and posteriorly to the tentorial surface of the cerebellum in 3 patients. The lesion was approached through occipital transtentorial approach in 8 patients and infratentorial supracerebellar approach in 1. Intraoperatively, the high vascularity of the tumor was not observed in all cases. Gross total resection (8 patients, 89%) or near total resection (1, 11%) was achieved in all cases. No complications were observed postoperatively in all cases. Eight patients subsequently underwent additional chemo-radiation therapy according to the initial diagnosis. All patients are alive with no evidence of recurrence with a mean follow-up of 33 months. CONCLUSIONS: Neoadjuvant chemotherapy and second-look surgery for pediatric pineal region tumors was considered to be effective in reducing the tumor volume and vascularity, which facilitates the safe maximal tumor resection.

[Pediatric Posterior Fossa Tumors].

Posterior fossa tumors tend to entail obstructive hydrocephalus, and urges initiating prompt treatment. Prevalent pathologies include medulloblastoma, ependymoma, pilocytic astrocytoma, and atypical teratoid/rhabdoid tumor(AT/RT). In most cases, maximal safe resection is related to better prognosis. In some cases of ependymoma and AT/RT with high vascularity, second-look surgery with neoadjuvant chemotherapy is effective. The treatment strategy should be tailored according to each tumor.

A common deletion at BAK1 reduces enhancer activity and confers risk of intracranial germ cell tumors.

Intracranial germ cell tumors (IGCTs) are rare brain neoplasms that mainly occur in children and adolescents with a particularly high incidence in East Asian populations. Here, we conduct a genome-wide association study (GWAS) of 133 patients with IGCTs and 762 controls of Japanese ancestry. A common 4-bp deletion polymorphism in an enhancer adjacent to BAK1 is significantly associated with the disease risk (rs3831846; P = 2.4 × 10-9, odds ratio = 2.46 [95% CI: 1.83-3.31], minor allele frequency = 0.43). Rs3831846 is in strong linkage disequilibrium with a testicular GCTs susceptibility variant rs210138. In-vitro reporter assays reveal rs3831846 to be a functional variant attenuating the enhancer activity, suggesting its contribution to IGCTs predisposition through altering BAK1 expression. Risk alleles of testicular GCTs derived from the European GWAS show significant positive correlations in the effect sizes with the Japanese IGCTs GWAS (P = 1.3 × 10-4, Spearman's ρ = 0.48). These results suggest the shared genetic susceptibility of GCTs beyond ethnicity and primary sites.

A neonatal purely prepontine arachnoid cyst: a case report and review of the literature.

Purely prepontine arachnoid cysts not extending into the suprasellar region in neonates are rare. Herein, we report a purely prepontine arachnoid cyst in a neonate which caused central apnea and was successfully treated with microscopic cyst fenestration and C1 laminectomy.

[Pediatric Glioma].

Pediatric gliomas include various types of glioma broadly categorized as low- or hi-grade based on histopathological features. Clinically significant types include cerebellar astrocytomas, optic pathway / hypothalamic pilocytic astrocytomas, and brainstem gliomas. Neurosurgical roles vary for different kinds of pediatric gliomas. Since these representative tumors remain rare, the patients should be directed toward facilities with experienced neurosurgeons. Radiotherapy and chemotherapy are very important as either adjuvant or primary treatment modalities. Recent advancements in molecular biology have revealed unique genetic aberrations in different types of pediatric gliomas. The RAS/MAPK pathway anomalies, including BRAF-KIAA1549 fusion and BRAF V600E mutation, are present in most low-grade gliomas. BRAF/MEK-inhibitors have yielded promising clinical study results. Diffuse midline gliomas, including diffuse intrinsic pontine gliomas, often harbor H3 mutations such as H3K27M. Agents that target these molecular aberrations are unavailable. Because gliomas in infants are sub-categorized by their genetic abnormalities, novel agents targeting ALK, ROS1, or NTRK fusions are promising treatments.

Endoscopic third ventriculostomy and cerebrospinal fluid shunting for pure communicating hydrocephalus in children.

PURPOSE: Recent reports regarding endoscopic third ventriculostomy (ETV) for pediatric hydrocephalus revealed that ETV could avoid cerebrospinal fluid (CSF) shunting in certain types of hydrocephalus. However, the effectiveness of ETV for "pure" communicating hydrocephalus that has no obstruction through CSF pathway is still unknown. In this study, we report clinical outcome of ETV and CSF shunting for communicating hydrocephalus and discuss the efficacy of ETV for pure communicating hydrocephalus. METHODS: Children less than 15 years old who underwent ETV or CSF shunting for communicating hydrocephalus were retrospectively reviewed. The absence of obstruction through CSF circulation was confirmed by CT cisternography or cine-contrast image in MRI. RESULTS: Sixty-three patients (45 CSF shunting and 18 ETV) were included. The mean follow-up period was 6.1 years. The success rate was 60% in CSF shunting and 67% in ETV at the last visit (p = 0.867). Normal development was observed in 24 patients (53%) in CSF shunting and 12 patients (67%) in ETV (p = 0.334). There was a significant difference in the mean time to failure (CSF shunting: 51.1 months, ETV 3.6 months, p = 0.004). The factor that affected success rate in ETV was the age at surgery (success 21.6 months, failure 4.4 months, p = 0.024) and ETV success score (success 66.7, failure 50.0, p = 0.047). CONCLUSION: Clinical outcomes of ETV were not inferior to those of CSF shunting in patients with communicating hydrocephalus. Further studies is required to elucidate to establish the consensus of ETV as a treatment option for communicating hydrocephalus.

Initial symptoms and diagnostic delay in children with brain tumors at a single institution in Japan.

BACKGROUND: A prolonged interval between onset of symptoms and diagnosis of childhood brain tumor is associated with worse neurological outcomes. The objectives of this study are to determine factors contributing to diagnostic delay and to find an interventional focus for further reduction in the interval between symptom onset and diagnosis in Japan. METHODS: We retrospectively analyzed 154 patients younger than 18 years with newly diagnosed brain tumors who visited our institution from January 2002 to March 2013. RESULTS: The median age at diagnosis was 6.2 years and the median total diagnostic interval (TDI) was 30 days. Patients with low-grade tumors and cerebral midline tumor location had significantly long TDI. Durations between the first medical consultation and diagnosis (diagnostic interval, DI) were exceedingly longer for patients with visual, hearing, or smelling abnormalities as the first symptom (median, 303 days). TDI and DI of patients who visited ophthalmologists or otolaryngologist for the first medical consultation were significantly longer. Among these patients, longer DI was associated with worse visual outcome. CONCLUSION: Raising awareness of brain tumor diagnosis among ophthalmologists and otolaryngologists may reduce diagnostic delay and may improve the neurological impairment of children with brain tumors in Japan.

Deleterious fibronectin type III-related gene variants may induce a spinal extradural arachnoid cyst: an exome sequencing study of identical twin cases.

PURPOSE: Despite numerous studies, the etiology of spinal extradural arachnoid cyst (SEDAC), a lesion associated with neurological symptoms, remains unknown. In this genomic twin study, we investigated the genetic etiology of SEDACs. METHODS: The subjects were identical twins who developed notably similar SEDACs at the same vertebral level. Accordingly, we performed whole-exome sequencing analyses of genomic material from the twins and their parents using a next-generation sequencer. Additionally, we determined their detailed family history and analyzed the family pedigree. RESULTS: The pedigree analysis suggested the potential presence of SEDACs in certain family members, indicating a genetic disease. Sequenced data were analyzed and filtered using a purpose-built algorithm, leading to the identification of 155 novel single-nucleotide polymorphisms (SNPs), of which 118 encoded missense or nonsense variants. A functional analysis of the proteins encoded by these SNP alleles revealed strong enrichment for the fibronectin type III (FN3) protein domain (q = 0.00576). Specifically, the data indicated that a missense variant affecting the FN3 protein domain of fibronectin 1 (FN1, p.P969S) can be the causal mutation underlying the SEDACs. CONCLUSION: The data suggest that deleterious mutations in fibronectin-related genes may cause SEDACs. In particular, it was suspected that a variant of FN1 may be the cause of the SEDACs in the twin cases studied herein. Detailed studies with a larger number of cases are needed.

Infantile intraorbital Ewing's sarcoma: case report and review of the literature.

We reported a 7-month-old female with intraorbital Ewing's sarcoma. Infantile Ewing's sarcoma is rare and its prognosis is poor. Ewing's sarcoma of orbital origin is even rare. There has been only 1 case of infantile intraorbital Ewing's sarcoma reported, and only 5 infantile primary orbital ESFTs (Ewing's sarcoma family of tumors) have been reported. Among these 5 cases, 2 infants who did not receive multimodal therapy died, whereas 3 who received multimodal therapy demonstrated long-term survival. The present case was also treated with multimodal therapy consisting of surgery, chemotherapy, and proton beam radiotherapy. There is no recurrence at 15 months follow-up. No specific treatment strategies have been established yet, and accumulation of cases is necessary. Ewing's sarcoma should be included in the differential diagnosis of infantile intraorbital tumors.

Basal encephalocele: surgical strategy and functional outcomes in the Tokyo experience.

OBJECTIVE: The basal encephalocele (BEC) is the rarest form of encephalocele, with an incidence of about 1/35,000 live births. The incidence of its subtype, sphenoidal BEC, is even lower at about 1/700,000 live births. The aim of this study was to propose the optimal surgical approach to repairing BEC, with special attention to the reconstruction of the skull base bone defect. METHODS: Fourteen consecutive pediatric patients with BEC who underwent surgical repair between March 2004 and March 2020 (10 boys and 4 girls, age 25 days to 7 years, median age 4 months) were enrolled. The follow-up period of the surviving patients ranged from 53 to192 months (mean 119.8 months). The patient demographics, BEC subtypes, preoperative clinical condition, radiographic findings, surgical procedures, and postoperative course were retrospectively analyzed. RESULTS: There were 4, 8, and 2 cases of sphenoidal BEC, sphenoethmoidal BEC, and ethmoidal BEC, respectively. The size of the bone defect was small in 3 patients, medium in 7, and large in 4 patients. All the patients with sphenoethmoidal and ethmoidal BEC showed associated congenital anomalies other than cleft palate. In total, 25 operations were performed. Two patients underwent multiple operations, whereas the remaining 9 patients received only 1 operation. The transoral transpalatal approach was the initial procedure used in all 14 patients. The transfrontobasal approach was applied as an additional procedure in 2 patients and as part of a 1-stage combined operation in 2 patients. Autograft bone alone was used for skull base reconstruction in 17 early operations. A titanium mesh/plate was used in the remaining 8 operations without any perioperative complications. All BECs were successfully repaired. Three patients died during the clinical course due to causes unrelated to their surgery. All but one of the surviving patients started growth hormone replacement therapy before school age. CONCLUSIONS: Based on the authors' limited experience, the key to successful BEC repair involves circumferential dissection of the BEC and a firm reconstruction of the skull base bone defect with a titanium plate/mesh. The transoral transpalatal approach is a promising, reliable procedure that may be used in the initial operation. When a cleft palate is absent, transnasal endoscopic repair is recommended. The transfrontobasal approach should be reserved for cases with a huge BEC and other anomalies. Long-term prognosis is apparently favorable in survivors.