The patient, a 20-day-old male, was admitted due to respiratory distress that had persisted for 20 days after birth. The main clinical manifestations included gradually worsening respiratory distress and edema. The patient received treatment including mechanical ventilation and diuretics. Echocardiography indicated cardiomegaly, pulmonary hypertension, and heart failure. A comprehensive systemic examination revealed a significant blowing vascular murmur upon auscultation over the anterior fontanelle and bilateral temporal regions. Further imaging studies including cranial magnetic resonance imaging, magnetic resonance angiography, and magnetic resonance venography showed marked dilation of the superior sagittal sinus, transverse sinus, and sigmoid sinus, leading to a definitive diagnosis of dural arteriovenous fistula. After a multidisciplinary consultation, the patient underwent cerebral angiography and partial embolization of the left parietal arteriovenous fistula. Postoperatively, the patient was treated with positive inotropes, diuretics, and fluid restriction. Ultimately, the patient was weaned off the ventilator and discharged in improved condition. This article reports a case of neonatal dural arteriovenous fistula presenting with respiratory distress and discusses the multidisciplinary approach to managing this condition, which aids in early disease recognition and guides clinical decision-making.
Humans ; Male ; Infant, Newborn ; Central Nervous System Vascular Malformations/diagnosis* ; Respiratory Distress Syndrome, Newborn/etiology* ; Embolization, Therapeutic

OBJECTIVES: Digital subtraction angiography (DSA) is the current gold standard for diagnosing spinal dural arteriovenous fistulas (SDAVF). However, DSA is invasive and associated with risks such as ionizing radiation and iodine contrast allergy. Contrast-enhanced magnetic resonance angiography (CE-MRA) with high temporal/high spatial resolution allows dynamic multiphase contrast-enhanced imaging with excellent detail. This study aims to evaluate the diagnostic value of spinal CE-MRA with high temporal/high spatial resolution for SDAVF. METHODS: Clinical data were retrospectively collected from patients who underwent both conventional spinal MRI and high temporal/high spatial resolution CE-MRA at Xiangya Hospital between January 1, 2021, and January 1, 2024, and who subsequently underwent DSA or surgery within 90 days. Two experienced radiologists independently reviewed all conventional MRI and CE-MRA images. The sensitivity and specificity of conventional MRI and CE-MRA for diagnosing SDAVF were calculated against the gold standard DSA findings. Kappa statistics were used to evaluate the consistency of MRI and CE-MRA compared to DSA. The diagnostic value was further assessed by calculating the area under curve (AUC) of the receiver operating characteristic (ROC). RESULTS: A total of 60 patients were included, of whom 47 were diagnosed with SDAVF and 13 were not. Conventional MRI had 3 false negatives and 1 false positive; CE-MRA had 2 false positives and 0 false negative. The sensitivity and specificity of conventional MRI were 93.62% and 92.31%, respectively. CE-MRA demonstrated 100% sensitivity and 84.62% specificity. The main cause of false positives was the misidentification of posterior spinal arteries as feeding arteries. CE-MRA clearly displayed most feeding arteries, and the accuracy of fistula localization was 74.47% (35/47). Kappa values for conventional MRI and CE-MRA were 0.814 and 0.896, respectively (both P<0.001), indicating good agreement, with CE-MRA outperforming conventional MRI. The AUCs for diagnosing SDAVF were 0.930 for conventional MRI and 0.923 for CE-MRA (both P<0.05). CONCLUSIONS Spinal CE-MRA with high temporal/high spatial resolution is a reliable, non-invasive imaging technique with high sensitivity for diagnosing SDAVF. It can clearly visualize feeding arteries and provides valuable preoperative diagnostic and localization information to support DSA or surgical planning.
Humans ; Central Nervous System Vascular Malformations/diagnosis* ; Male ; Female ; Retrospective Studies ; Middle Aged ; Magnetic Resonance Angiography/methods* ; Angiography, Digital Subtraction/methods* ; Aged ; Adult ; Sensitivity and Specificity ; Contrast Media ; Magnetic Resonance Imaging/methods*

OBJECTIVE: To explore the clinical characteristics and genetic etiology of a child with Aicardi-Goutières syndrome 3 (AGS3). METHODS: Trio whole exome sequencing was carried out for the child and his parents, and candidate variants were verified by Sanger sequencing. To further clarify their pathogenicity, the crystal structure of the variants was simulated and analyzed, and the plasmid of variants was expressed in vitro. A literature search was also carried out to summarize the phenotypic and genetic characteristics of AGS3. RESULTS: The child was found to harbor novel compound heterozygous variants of the RNASEH2C gene, namely c.434G>T (p.Arg145Leu) and c.494G>C (p.Ter165Ser), which were inherited from his mother and father, respectively. Analysis of protein crystal structure suggested that the c.434G>T (p.Arg145Leu) variant may affect the stability of local structure, and in vitro experiments showed that this variant can lead to protein degradation. The c.494G>C (p.Ter165Ser) variant has destroyed the stop codon, resulting in prolonged variant. CONCLUSION The novel compound heterozygous variants of the RNASEH2C gene probably underlay the AGS3 in this child, which has enriched the phenotypic and mutational spectrum of this disorder.
Humans ; Child ; Mutation ; Autoimmune Diseases of the Nervous System/genetics* ; Nervous System Malformations/genetics*

OBJECTIVE: To assess the value of chromosomal microarray analysis (CMA) for the diagnosis of fetuses with anomalies of the central nervous system (CNS) and summarize the outcome of the pregnancies and follow-up. METHODS: A total of 636 fetuses from June 2014 to December 2020 who were referred to the Prenatal Diagnosis Center of Nanjing Drum Tower Hospital due to abnormal CNS prompted by ultrasound were selected as the research subjects. Based on the ultrasound findings, the fetuses were divided into ventricular dilatation group (n = 441), choroid plexus cyst group (n = 41), enlarged posterior fossa group (n = 42), holoprosencephaly group (n = 15), corpus callosum hypoplasia group (n = 22), and other anomaly group (n = 75). Meanwhile, they were also divided into isolated (n = 504) and non-isolated (n = 132) groups based on the presence of additional abnormalities. Prenatal samples (amniotic fluid/chorionic villi/umbilical cord blood) or abortus tissue were collected for the extraction of genomic DNA and CMA assay. Outcome of the pregnancies and postnatal follow-up were summarized and subjected to statistical analysis. RESULTS: In total 636 fetuses with CNS anomalies (including 89 abortus tissues) were included, and 547 cases were followed up. The overall detection rate of CMA was 11.48% (73/636). The detection rates for the holoprosencephaly group, ACC group, choroid plexus cyst group, enlarged posterior fossa group, ventricular dilatation group and other anomaly group were 80% (12/15), 31.82% (7/22), 19.51% (8/41), 14.29% (6/42), 7.48% (33/441) and 9.33% (7/75), respectively. Compared with the isolated CNS anomaly group, the detection rate for the non-isolated CNS anomaly group was significantly higher (6.35% vs. 31.06%) (32/504 vs. 41/132) (χ² = 62.867, P < 0.001). Follow up showed that, for 52 fetuses with abnormal CMA results, 51 couples have opted induced labor, whilst 1 was delivered at full term with normal growth and development. Of the 434 fetuses with normal CMA results, 377 were delivered at full term (6 had developmental delay), and 57 couples had opted induced labor. The rate of adverse pregnancy outcome for non-isolated CNS abnormal fetuses was significantly higher than that of isolated CNS abnormal fetuses (26.56% vs. 10.54%) (17/64 vs. 39/370) (χ² = 12.463, P < 0.001). CONCLUSION Fetuses with CNS anomaly should be tested with CMA to determine the genetic cause. Most fetuses with negative CMA result have a good prognosis, but there is still a possibility for a abnormal neurological phenotype. Fetuses with CNS abnormalities in conjunct with other structural abnormalities are at increased risk for adverse pregnancy outcomes.
Female ; Pregnancy ; Humans ; Holoprosencephaly ; Prenatal Diagnosis/methods* ; Central Nervous System ; Fetus/abnormalities* ; Nervous System Malformations/genetics* ; Microarray Analysis ; Central Nervous System Diseases ; Cysts ; Chromosome Aberrations ; Ultrasonography, Prenatal/methods*

Humans ; Microcephaly ; Pedigree ; Nervous System Malformations ; Glucose

OBJECTIVE: To compare the clinical effect of microsurgery and endovascular embolization in the treatment of spinal dural arteriovenous fistula (SDAVF) by meta-analysis. METHODS: A systematic review was performed to retrieve all relevant literature about surgical treatment or endovascular embolization of SDAVF up to December 2019 through PubMed, Embase, Web of Science, Cochrane Central Register of Controlled Trials Results, CNKI, Wanfang Data, and SinoMed. The Chinese and English key words included: "SDAVF", "spinal dural arteriovenous fistula", "spinal AVM", "spinal vascular malformation and treatment". The included studies were evaluated using the Newcastle-Ottawa scale. The early failure rate, long-term recurrence, neurological recovery, and complications were evaluated and the clinical effects of the two methods in the treatment of SDAVF were compared by using RevMan 5.3 software. And a further subgroup analysis of the therapeutic effect of endovascular embolization with different embolic agents was conducted. RESULTS: A total of 46 studies involving 1 958 cases of SDAVF were included, in which 935 cases were treated by microsurgery and 1 023 cases were treated by endovascular embolization. The funnel plot demonstrated that there was no publication bias. The results of meta-analysis showed that the incidence of early surgical failure was lower than that of endovascular embolization (OR=0.20, 95%CI: 0.13-0.30, P < 0.05), and the long-term recurrence was also lower than that of endovascular embolization (OR=0.36, 95%CI: 0.22-0.58, P < 0.05). The improvement of neurological function in the surgical patients is significantly higher than that in the patients treated with endovascular embolization (OR=2.86, 95%CI: 1.36-5.99, P < 0.05). There was no significant difference in the occurrence of complications in these two groups (OR=1.52, 95%CI: 0.88-2.64, P=0.14). In the cases of endovascular embolization, the risk of treatment failure or recurrence was higher with Onyx glue than with n-butyl 2-cyanoacrylate (NBCA), and the difference was statistically significant (OR=4.70, 95%CI: 1.55-14.28, P < 0.05). CONCLUSION Although the treatment of dural arteriovenous fistulas by intravascular embolization has been widely used, the clinical effect of microsurgery is still better than that of endovascular embolization. Large scale and high-quality randomized controlled trials are required to validate the efficacy and safety of endovascular treatment in SDAVF patients.
Central Nervous System Vascular Malformations/surgery* ; Embolization, Therapeutic/methods* ; Enbucrilate/therapeutic use* ; Endovascular Procedures/methods* ; Humans ; Microsurgery/methods* ; Retrospective Studies ; Treatment Outcome

Central Nervous System Infections/drug therapy* ; Child ; Humans ; Nervous System Malformations

Cranial Nerves ; Humans ; Lymphoma ; Nervous System Malformations

OBJECTIVE: To analyze the clinical phenotype and pathogenic variant in a child diagnosed with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH). METHODS: Clinical phenotype of the child was reviewed. Whole exome sequencing was carried out for the child. Candidate variant was verified by Sanger sequencing of the family member. RESULTS: The proband manifested dyskinesia, development delay, cerebellar hypoplasia and bilateral hearing impairment. WES results revealed that the proband has carried a pathogenic c.1641_1644delACAA (p.Thr548Trpfs*69) variant of the CASK gene, which was verified by Sanger sequencing to be a de novo variant. CONCLUSION The c.1641_1644delACAA (p.Thr548Trpfs*69) variant of the CASK gene probably underlay the MICPCH in the proband. Above finding has provided a basis for genetic counseling. WES should be considered for the diagnosis of neurological dysplasia.
Cerebellum/abnormalities* ; Child ; Developmental Disabilities ; Family ; Humans ; Mental Retardation, X-Linked ; Microcephaly/genetics* ; Nervous System Malformations

Arteriovenous Fistula/diagnostic imaging* ; Central Nervous System Vascular Malformations/diagnostic imaging* ; Embolization, Therapeutic ; Humans