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An encephalocele is a congenital malformation characterized by protrusion of the intracranial contents through a cranial defect. We report that a fetus of a pregnant mother who had two consecutive pregnancies with ultrasound-detected encephalocele carried compound heterozygous variants in B3GALNT2 NM_152490.5:c.[1423C > T (p.Gln475Ter)]; [261-2A > G] of maternal and paternal origins, respectively, as confirmed by exome sequencing followed by Sanger sequencing validation. The present case implies that mutations in B3GALNT2, a well-known dystroglycanopathy causative gene, may result in a phenotype of neural tube defect, providing new insights into the clinical spectrum of B3GALNT2-related disorders. Our study may contribute to prenatal screening/diagnosis and genetic counseling of congenital brain malformations.

Objective:To explore the influencing factors of adult spontaneous meningoencephalocele, which occurs in the lateral recess of sphenoid sinus, in order to improve the level of clinical diagnosis and treatment. Methods:The clinical data of 27 adults with spontaneous meningoencephalocele in lateral recess of sphenoid sinus in Department of the Otorhinolaryngology, the First Affiliated Hospital of Zhengzhou University from January 2017 to December 2022 were retrospectively analyzed. Preoperative sinus CT and MRI were performed to confirm the diagnosis and location of meningoencephalocele. Results:①There were 0 cases of lateral recess of sphenoid sinus type Ⅰ, 8 cases of lateral recess of sphenoid sinus type Ⅱ and 19 cases of lateral recess of sphenoid sinus type Ⅲ. ②Among the 27 adult patients with spontaneous meningoencephalocele, 9 were male and 18 were female, and the onset age was 19-72 years old, with an average age of（50.7±12.4） years old. 18 cases were complicated with cerebrospinal fluid leakage, 11 cases with headache and dizziness, 3 cases with recurrent meningitis（complicated with cerebrospinal fluid leakage）, and 2 cases with epilepsy. ③There were 20 patients with intracranial hypertension, 17 patients with body mass index（BMI） ≥25 kg/m², and 8 patients with empty sella. Conclusion:Type Ⅲ of lateral recess of sphenoid sinus is the most common type in adult spontaneous meningoencephalocele, and intracranial hypertension and obesity are the influencing factors of this disease. Puncture, biopsy or operation should not be performed for patients suspected of spontaneous meningoencephalocele, and imaging examination should be performed to identify the source of the tumor.
目的：探讨好发于蝶窦外侧隐窝的成人自发性脑膜脑膨出的影响因素，以提高该病的临床诊疗水平。 方法：回顾性分析2017年1月-2022年12月郑州大学第一附属医院鼻科27例蝶窦外侧隐窝的成人自发性脑膜脑膨出的临床资料。术前行鼻窦CT及MRI明确诊断及定位脑膜脑膨出位置。 结果：①蝶窦外侧隐窝Ⅰ型0例，蝶窦外侧隐窝Ⅱ型8例，蝶窦外侧隐窝Ⅲ型19例。②27例好发于蝶窦外侧隐窝的成人自发性脑膜脑膨出患者中男9例，女18例，发病年龄19～72岁，平均（50.7±12.4）岁；18例合并有脑脊液漏，11例伴有头痛、头晕，3例反复发作脑膜炎（合并脑脊液漏），2例伴有癫痫发作。③20例伴有颅内高压，体重指数（BMI）≥25 kg/m²的患者有17例，合并空蝶鞍8例。 结论：成人自发性脑膜脑膨出中以蝶窦外侧隐窝Ⅲ型最常见，且颅内高压、肥胖为该病的影响因素，对怀疑自发性脑膜脑膨出者不可进行穿刺、活检或手术，必须完善影像学检查以明确肿物来源。.

暂无摘要。

OBJECTIVE: To carry out prenatal diagnosis for a fetus with Meckel syndrome (MKS) and explore its genetic basis.
METHODS: A pregnant woman presented at Suzhou Municipal Hospital in February 2018 was selected as the study subject. Clinical data was collected. Muscle tissue sample from the abortus and peripheral blood samples from the couple were collected. Genomic DNA was extracted and subjected to chromosomal microarray analysis (CMA) and whole exome sequencing. Candidate variant was verified by Sanger sequencing.
RESULTS: The fetus was found to have microcephaly, oligohydramnios, polycystic kidneys and banana-shaped cerebellum at 18 weeks of gestation. After induction of labor, it was found to have encephalocele, renal cysts and polydactyly. CMA has found no abnormality. Whole exome sequencing revealed novel compound heterozygous variants c.296delA (p.Lys99SerfsTer6) and c.1243G>A (p.Val415Met) in the TMEM67 gene. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.296delA variant was predicted to be pathogenic (PVS1+PM2_Supporting+PP4), whilst the c.1243G>A variant was predicted to be likely pathogenic (PM2_Supporting+PM3+PP3_Moderate+PP4).
CONCLUSIONS: The c.296delA and c.1243G>A compound heterozygous variants of the TMEM67 gene probably underlay the MKS in this fetus.

Repair of large cranial complex traumas in children is difficult. Notably, children have poorer underlying conditions than adults and are frailer under trauma. In addition, children have more limited treatment options, leading to the need to consider long-term functional and aesthetic outcomes. The present report describes the case of a 2-year-old child weighing 9 kg who experienced a skull fracture with encephalocele after a car accident and had a poor underlying condition. An artificial dura mater combined with bone cement was used to repair the skull, and then a free latissimus dorsi muscle flap (LDMF) combined with a split-thickness skin graft (STSG) was used to cover the wound, allowing the child to overcome the life-threatening situation as soon as possible with a satisfactory outcome. LDMF combined with STSG is an ideal option in repairing head wounds in children. Preoperative imaging and postoperative care also serve an important role in the success of the operation. When the situation is critical, multidisciplinary team treatment can guarantee the safety of the child.

OBJECTIVE: Clinical presentations encompass respiratory, feeding issues, nasopharyngeal mass, meningitis, CSF leakage, craniofacial anomalies, and endocrine problems. Surgery is the primary treatment, transitioning from frontal craniotomy to endoscopic methods, offering improved outcomes. Yet, more studies are needed. A comprehensive review on trans-sellar trans-sphenoidal encephalocele (TSTSE) is missing. Our study aims to fill this gap, offering a comprehensive perspective for physicians.
METHODS: This review adhered to the PRISMA guideline. Eligible studies focused on human subjects, specifically trans-sellar encephaloceles, and provided comprehensive treatment details. English language articles published up to April 11th, 2023, were considered. Two trained researchers conducted article screening using consistent criteria. Data extraction covered various aspects, including clinical presentation, surgical methods, and outcomes, with results presented descriptively in two tables. Due to the rarity of this congenital anomaly, meta-analysis and publication bias assessment were not feasible. Data extraction was independently conducted by two reviewers, with subsequent cross-verification.
RESULTS: A total of 36 patients were identified from 14 studies, the most frequently observed clinical presentation was dyspnea (41.67%) and the most frequently observed accompanying anomaly was cleft lip/palate (55.56%). CT and MRI were adopted in nearly all the cases, and trans-nasal approach was the most often used surgical approach (57.14%) with the \'soft material combination\' the most commonly used method for cranial base repairment (35.71%). A total of two deaths occurred and diabetes insipidus was the most common perioperative complication which occurred in six surgery patients (21.43%).
CONCLUSIONS: TSTSE predominantly affects males and presents with dyspnea, visual deficits, pituitary insufficiency, and cranial base-related symptoms. Early diagnosis is critical, with advanced imaging playing a key role. Endocrine assessment is vital for hormone management. Surgery offers symptom relief but entails risks, including reported fatalities and complications. The choice between surgery and conservative management requires careful deliberation. The trans-nasal approach is favored for its reduced trauma, yet further research is necessary to validate this preference.

BACKGROUND: Meckel syndrome (MKS) is the most severe form of an autosomal recessive ciliopathy and is clinically characterized by occipital encephalocele, severely polycystic kidneys, and postaxial polydactyly (toes). The association of TXNDC15-related MKS has been reported. We report the case of a homozygous mutation in the TXNDC15 gene, causing MKS14 in the Chinese population.
METHODS: The fetal skin tissue and parental peripheral blood were retained for whole-exome sequencing and Sanger sequencing, which investigated the potential pathogenic variants associated with MKS.
RESULTS: The fetus was homozygous for a mutation in the TXNDC15 gene (NM_024715.3), specifically c.560delA (p.Asn187llefsTer4), and both parents were heterozygous for this mutation.
CONCLUSIONS: Our study identified a new mutation that adds to the mutational landscape of MKS, which provide a basis for genetic counseling and the selection of reproductive options.

BACKGROUND: Meckel-Gruber syndrome (MKS) is a perinatally lethal, genetically heterogeneous, autosomal recessive condition caused by defective primary cilium formation. So far, the association of TXNDC15-related MKS has been reported in only five independent families from diverse ethnic origins, including Saudi, Pakistani, Estonian, and Indian. Here, we report a fetus diagnosed with MKS at 12 weeks, exhibiting typical ultrasound findings.
METHODS: Low-coverage whole-genome sequencing was used to identify chromosomal abnormalities. Trio-base whole exome sequencing (trio-WES) was performed to investigate the potential pathogenic variants associated with MKS. Preimplantation genetic testing for monogenic disorders (PGT-M) was applied to prevent the transmission of the pathogenic variant.
RESULTS: A novel homozygous pathogenic variant in the TXNDC15 gene was identified through trio-WES. The application of PGT-M successfully prevented the transmission of the pathogenic variant and resulted in an ongoing pregnancy.
CONCLUSIONS: This is the first report of a TXNDC15 variant in the Chinese population and the first PGT case of TXNDC15-related MKS worldwide. The successful application of PGT-M in this family provides a potential approach for other monogenic diseases. Our case expands the variant spectrum of TXNDC15 and contributes to the molecular diagnosis and genetic counseling for MKS. This case underscores the importance of appropriate genetic testing methods and accurate genetic counseling in the diagnosis of rare monogenic diseases.

There is an absent systematic analysis or review that has been conducted to clarify the topic of nomenclature history and terms misuse about Chiari malformations (CMs). We reviewed all reports on terms coined for CMs for rational use and provided their etymology and future development. All literature on the nomenclature of CMs was retrieved and extracted into core terms. Subsequently, keyword analysis, preceding and predicting (2023-2025) compound annual growth rate (CAGR) of each core term, was calculated using a mathematical formula and autoregressive integrated moving average model in Python. Totally 64,527 CM term usage was identified. Of these, 57 original terms were collected and then extracted into 24 core-terms. Seventeen terms have their own featured author keywords, while seven terms are homologous. The preceding CAGR of 24 terms showed significant growth in use for 18 terms, while 13, three, three, and five terms may show sustained growth, remain stable, decline, and rare in usage, respectively, in the future. Previously, owing to intricate nomenclature, Chiari terms were frequently misused, and numerous seemingly novel but worthless even improper terms have emerged. For a very basic neuropathological phenomenon tonsillar herniation by multiple etiology, a mechanism-based nosology seems to be more conducive to future communication than an umbrella eponym. However, a good nomenclature also should encapsulate all characteristics of this condition, but this is lacking in current CM research, as the pathophysiological mechanisms are not elucidated for the majority of CMs.