The Long-Term Natural History of Fibrous Dysplasia.

Fibrous dysplasia (FD), a developmental, nonfamilial, benign anomaly of bone development, is characterized by the replacement of normal bone by proliferating fibro-osseous tissue. Marked craniofacial deformities, functional disturbances, and emotional stress are major indications for treatment, and various surgical procedures have been performed; however, excision and regrowth issues have also been reported. While several treatment options are available, no studies have reported the natural history of untreated FD. Here, we report 2 patients, aged 73 and 50 years, respectively, who had not received treatment. Both patients presented to the hospital complaining of noise when moving their heads. Computed tomography scans showed niveau with honeycomb cavities in both patients, indicating abscess formation, and resection was performed. Relatively large cranial FD leads to the development of central necrosis over time. In such cases, surgical intervention should be performed at an early disease stage.

Pitfall of Monobloc Advancement in Beare-Stevenson Syndrome.

Beare-Stevenson syndrome (BSS) is an extremely rare form of craniosynostosis. Half of patients with BSS died within the first year of life due to cardiorespiratory arrest or unexpected sudden death. In addition, there have only been fewer than 30 cases, which limits prognostication for clinicians. We currently have an 8-year-old patient who is being followed up. She underwent tracheostomy, cranioplasty, and shunting. After waiting for growth, for improvement of ocular herniation, monobloc advancement was performed at the age of 5 years. The temporal fossa was quite narrow due to severe midface hypoplasia. In addition, even though midface advancement, it was difficult to remove tracheostomy. This was because midfacial hypoplasia was so severe that it was hard to notice, but there was also micrognathia. We report our experience with this midface treatment.

Is Postoperative Helmet Molding Therapy Necessary for Craniectomy for Sagittal Suture Synostosis?

Endoscopic strip craniectomy followed by postoperative remodeling helmet therapy for scaphocephaly is widely accepted, but the requirement of several helmets might burden patients or their families. This study examined whether craniectomy via a bicoronal approach without molding helmet therapy is worth considering. The authors retrospectively reviewed patients with nonsyndromic sagittal suture synostosis who underwent the modified Renier H technique between 2016 and 2021. We collected data on preoperative and postoperative cephalic index (CI), operative time, estimated blood loss, and blood transfusion rates. The authors also examined all related literature in English describing endoscopic craniectomy with postoperative helmet molding therapy for sagittal suture craniosynostosis. Among 17 patients, the average operative time was 92.2±15.6 minutes, the mean estimated blood loss was 35.8±22.4 mL, and a blood transfusion was needed for 9 patients (52.9%). The mean preoperative and postoperative CIs were 69.1±2.6 and 78.4±2.2, respectively. A comparison of the literature review with the authors' results showed that their procedures required a slightly longer operative time and a higher frequency of blood transfusions. There are no significant differences in blood loss or preoperative and postoperative CIs reported in the literature. The open procedure required a higher operative time than endoscopic suturectomy. However, dealing with bleeding is more challenging with endoscopic suturectomy. The cost of the helmets and the duration patients have to wear them, which might be burdensome for the patients or their families when determining the optimal minimally invasive treatment, should also be considered.

Endoscopic Occipital Transtentorial Approach for Supracerebellar Lesions.

The occipital transtentorial approach (OTA), which is often applied for superior cerebellar lesions, has an inevitable risk of homonymous hemianopsia due to the retraction of the occipital lobe. The endoscopic approach provides increased visibility of the surgical field due to the wide-angled panoramic view and is minimally invasive in approaching deep brain lesions compared to the conventional microscopic approach. However, little is known regarding endoscopic OTA for the removal of cerebellar lesions. We experienced a case of a hemangioblastoma in the paramedian superior surface of the cerebellum that was successfully treated with endoscopic OTA combined with gravity retraction while avoiding postoperative visual dysfunction. A 48-year-old woman was diagnosed with a hemangioblastoma in the superior surface of the cerebellum. She underwent tumor removal with endoscopic OTA combined with gravity retraction of the occipital lobe instead of using brain retractors. The narrower space was sufficient for surgical manipulation with a panoramic view obtained by endoscopy. The simultaneous observation of the lesion with both an endoscope and a microscope revealed the superiority of infratentorial visualization with an endoscope. Gross total removal was achieved with no postoperative complications, including visual dysfunction. Endoscopic OTA may reduce the risk of postoperative visual dysfunction because of its minimally invasive nature, which is enhanced when combined with gravity retraction. Additionally, the panoramic view of the endoscope allows favorable visualization of an infratentorial lesion, which is otherwise hidden partly by the tentorium. The use of endoscopy is compatible with OTA, and endoscopic OTA could be an option for superior cerebellar lesions for avoiding visual dysfunction.

The Necessity of Dural Resection for Nasal Dermal Sinus Cyst With Intracranial Extension.

Nasal dermal sinus cysts are characterized by an intracranial-extradural extension. Complete extirpation of nasofrontal dermoid sinus cysts is essential for effective treatment to minimize recurrence. The authors revealed the pathologic findings of the cranial end connected to the dura. In our case, the cranial end and dura were fibrous connective tissues that were difficult to separate. For complete extirpation of the nasal dermal sinus cyst with intracranial extension, the cranial ends of the nasofrontal dermoid sinus cyst and dura should be resected en bloc.

Clinical, histopathological and molecular risk factors for recurrence of pilocytic astrocytomas: brainstem/spinal location, nestin expression and gain of 7q and 19 are associated with early tumor recurrence.

Pilocytic astrocytomas (PAs) are benign tumors. However, clinically aggressive PAs despite benign histology have been reported, and histological and molecular risk factors for prognosis have not been elucidated. 38 PAs were studied for clinical, histological, and molecular factors, including tumor location, extent of resection, post-operative treatment, glioma-associated molecules (IDH1/2, ATRX, BRAF, FGFR1, PIK3CA, H3F3A, p53, VEGF, Nestin, PD-1/PD-L1), CDKN2A/B deletion, and chromosomal number aberrations, to see if there is any correlation with patient's progression-free survival (PFS). Brainstem/spinal location, extent of resection and post-operative treatment, and VEGF-A, Nestin and PD-L1 expression, copy number gain of chromosome 7q or 19, TP53 mutation were significantly associated with shorter PFS. None of the histological parameters was associated with PFS. Multivariate analyses demonstrated that high Nestin expression, gain of 7q or 19, and extent of removal were independently predictive for early tumor recurrence. The brainstem/spinal PAs appeared distinct from those in the other sites in terms of molecular characteristics. Clinically aggressive PAs despite benign histology exhibited high Nestin expression. Brainstem/spinal location, extent of resection and some molecular factors including Nestin expression and gains of 7q and 19, rather than histological parameters, may be associated with early tumor recurrence in PAs.

Intracranial germinoma in the lateral ventricle with polydipsia and polyuria: a case report and literature review.

Central nervous system germ cell tumors (CNSGCTs) are rare neoplasms which usually develop in the midline structures. They are occasionally involved in off-midline structures of the brain. Here, we report an extremely rare case of an intracranial germinoma in the lateral ventricle. The patient was a 10-year-old boy with a 1-year history of polydipsia and polyuria. Brain magnetic resonance imaging (MRI) showed a relatively homogeneously enhancing lesion in the lateral ventricle, and the posterior pituitary gland was not hyperintense on T1-weighted imaging. Subependymoma was suspected, and tumor removal operation was performed; however, because the intraoperative pathological investigation revealed germinoma, we could only perform partial removal of the tumor. Postoperative histology also confirmed germinoma. Then, the patient received chemotherapy, followed by radiation therapy. MRI showed no recurrence for 6 years after treatment. Intracranial germinoma in the lateral ventricle is extremely rare. The diagnosis is occasionally challenging, especially when the tumors are located in atypical locations. This paper presents a literature review of previously described CNSGCTs of the lateral ventricle to improve awareness of CNSGCTs in atypical locations. We also consider the relationship between imaging findings and clinical manifestations.

Case report: meningeal lymphangiogenesis around ependymoma forming along the dura matter.

Recently, there has been growing interest in the presence and function of meningeal lymphatic vessels, with no direct evidence linking these vessels to primary brain tumors. We report a unique case of recurrent ependymoma in the dura mater, showing histopathological signs of lymphatic proliferation at the tumor attachment site. The patient initially presented with a headache, and was diagnosed with ZFTA fusion-positive supratentorial ependymoma, central nervous system WHO Grade 3. Following multiple dura mater recurrences and surgery, the fifth procedure revealed numerous tumors contralateral to the original site, with genetic testing confirming ZFTA fusion positivity, indicating recurrent ependymoma. Immunohistochemical analysis showed D2-40+ lymphatic vessel proliferation around tumor attachment sites within the dura mater. Elevated expression of ZEB1, which is an epithelial-to-mesenchymal transition factor, was also observed, implicating potential involvement in the unique pathophysiology. The present case suggests a new process of metastasis through meningeal lymphatic vessels, although we were unable to visually confirm tumor cell infiltration into the lymphatic vessels. This case is the first report suggesting ependymoma metastasis through dural lymphatic vessels, underlining the need for further case accumulation and study to understand the mechanisms of this phenomenon.

An Elderly Patient With Crouzon Syndrome Treated With Monobloc Distraction.

Monobloc advancement by distraction osteogenesis is the treatment of choice in patients with syndromic craniosynostosis. This procedure is usually performed at 18 to 24 months/5 to 10 years of age. Herein, we present the case of a male patient with Crouzon syndrome who underwent monobloc advancement at the age of 62 years. Although the patient lived a normal life (employed, married, and being a father of a daughter), he visited our hospital for surgical improvement in facial esthetics. The patient underwent monobloc advancement by distraction osteogenesis. He was satisfied with the postoperative esthetic improvement and did not experience any major complications. This case highlights the fact that patients with syndromic craniosynostosis desire esthetic improvement and suggests that multidisciplinary treatment involving both the neuro and plastic surgeons is important in such cases.

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.

Application of Deep Learning Techniques for Automated Diagnosis of Non-Syndromic Craniosynostosis Using Skull.

ABSTRACT: Non-syndromic craniosynostosis (NSCS) is a disease, in which a single cranial bone suture is prematurely fused. The early intervention of the disease is associated with a favorable outcome at a later age, so appropriate screening of NSCS is essential for its clinical management. The present study aims to develop a classification and detection system of NSCS using skull X-ray images and a convolutional neural network (CNN) deep learning framework. A total of 56 NSCS cases (scaphocephaly [ n = 17], trigonocephaly [n = 28], anterior plagiocephaly [n = 8], and posterior plagiocephaly [n = 3]) and 25 healthy control infants were included in the study. All the cases underwent skull X-rays and computed tomography scan for diagnosis in our institution. The lateral views obtained from the patients were retrospectively examined using a CNN framework. Our CNN model classified the 4 NSCS types and control with high accuracy (100%). All the cases were correctly classified. The proposed CNN model may offer a safe and high-sensitivity screening of NSCS and facilitate early diagnosis of the disease and better neurocognitive outcome for patients.

The Learning Curve of a Craniofacial Surgeon: A Retrospective Study of 100 Consecutive Cases.

ABSTRACT: Mastering the techniques of craniofacial surgery is difficult owing to the small number of cases and the special skills required. To improve the outcomes of craniofacial surgery in Japan, the authors charted the progress of a craniofacial surgeon by reviewing the results for the 100 consecutive craniosynostosis cases, in which the authors performed fronto-orbital advancement (FOA). in this study, all FOA surgeries were performed by the first author beginning in 2012. The number of FOA surgeries previously performed by the surgeon at the time of the current surgery served as an indicator of his level of experience; the cases were grouped in 5 consecutive sets of 20. The preparation time before the operation, the operative time, and the amount of bleeding were retrospectively investigated. The operative and preparation times decreased as the surgeon's experience increased until a plateau was reached after 41 to 60 surgeries. Increases in operative time also corresponded to decreases in the amount of bleeding. Everyone has a learning curve, including surgeons performing craniofacial surgeries. Surgery is not performed by the surgeon alone. Reductions in preparation time, operative time, and the time needed to leave the operation room after the completion of the surgery were attributed to better collaborations with nurses and anesthesiologists. Hence, the growth of the team is very important to the success of the craniofacial surgeon and ensures safe and effective treatment of the patient.

Digestive Decolonization of Colorectal Carriage of Vancomycin-resistant Enterococcus faecium in a Japanese Adult.

Patients with vancomycin-resistant Enterococcus (VRE) colonization should be managed in an isolation room with contact precautions. We herein report a patient whose colorectal carriage of VRE was successfully decolonized using concomitant bowel irrigation with polyethylene glycol, probiotics, and oral antimicrobials, linezolid and orally-administered daptomycin, for release from isolation and contact precautions. We therefore would like to suggest a potential strategy for managing patients with VRE colonization.

Early diagnosis of lateral meningocele syndrome in an infant without neurological symptoms based on genomic analysis.

Lateral meningocele syndrome is characterized by multiple lateral meningoceles with a distinctive craniofacial appearance, hyperextensibility of the skin, and hypermobility of the joints. The syndrome is caused by heterozygous truncating variants in the last exon, exon 33, of the NOTCH3 gene. Here, we present a 2-year-old girl for whom an early genomic analysis allowed us to recognize the presence of lateral meningoceles and to begin early monitoring of her condition for possible neurological complications. She had a characteristic facial appearance, hyperextensibility of the skin and mobility of the joints, and developmental delays. Given that lateral meningocele syndrome is a rare syndrome, the existence of lateral meningoceles is suspected only when the causative gene is detected by genetic testing. MRI scans are unlikely to be performed in infancy in the absence of neurological symptoms suggestive of meningoceles. No formal guidelines have been established for the neurosurgical indications for lateral meningocele syndrome. Given the features of hyperextensibility of the skin and hypermobility of the joints, lateral meningocele syndrome can be categorized as a connective tissue disease and may be progressive, as with the dural ectasia in Marfan syndrome and Loeys-Dietz syndrome. Watchful monitoring of dural ectasia may be warranted in patients with lateral meningocele syndrome.