To explore the clinical characteristics of primary intracranial germ cell tumors (iGCT) and analyze the risk factors for the occurrence of neuroendocrine dysfunction.Methods:A case series study was conducted. The data of 130 children diagnosed with iGCT who were admitted to the Department of Pediatrics, Beijing Tiantan Hospital, Capital Medical University, from February 2021 to December 2023 was collected. The clinical characteristics of iGCT were summarized, including general information, clinical manifestations, imaging findings, laboratory tests and outcomes. Children were divided into groups aged 0-9 and 10-18 years, and divided into group non-neuroendocrine dysfunction, group partial neuroendocrine dysfunction and group combined hypothalamic and pituitary-target gland axis dysfunction. Multivariate Logistic regression was employed for statistical analysis to identify risk factors for neuroendocrine dysfunction in iGCT children.Results:A total of 130 iGCT children were included, with an age of (10±3) years, 87 males and 43 females. Among them, 82 children (63.1%) had germinoma and 48 children (36.9%) had non-germinomatous germ cell tumors (NGGCT). One hundred and ten children (84.6%) had single lesions, including 47 cases in the sellar region, 29 cases in the pineal region and 34 cases in the basal ganglia region. Multi-leisions presented in the 20 children (15.4%), with 10 cases in the sellar+pineal region, 6 cases in the sellar+basal ganglia region, 3 cases in the pineal+ganglia region and 1 case in the sellar+pineal+basal ganglia region. Dissemination was presented to 26 children (20.0%). Initial clinical manifestations presented with symptoms of cranial hypertension like headache and vomiting in 75 cases, vision changes in 28 cases, limb movement disorders in 42 cases, diabetes insipidus in 67 cases, precocious puberty in 23 cases, growth retardation in 22 cases and delayed puberty in 2 cases. Among the 72 children aged 0-9 years, 37 cases (51.4%) had germinoma and 35 cases (48.6%) had NGGCT, while among the 58 children aged 10-18 years, 45 cases (77.6%) had germinoma and 13 cases (22.4%) had NGGCT. Non neuroendocrine dysfunction group included 39 children, partial neuroendocrine dysfunction group 54 children, and combined hypothalamic and pituitary-target gland axis dysfunction group 37 children. Univariate analysis showed statistical difference in gender, disease duration, tumor location, and serum human chorionic gonadotropin level among the 3 groups (all P<0.05). Multivariate Logistic regression analysis revealed that girl ( OR=5.29, 95% CI 1.54-18.16) and long disease duration ( OR=1.07, 95% CI 1.01-1.14) were risk factors for neuroendocrine dysfunction in iGCT patients (both P<0.05). Conclusions:iGCT occurs in children of all ages, with a higher incidence in males. The proportions of germinoma and NGGCT are similar in children aged 0-9 years, while germinoma is more common in patients aged 10-18 years. The clinical symptoms are atypical and diverse. Female gender and longer disease duration demonstrate the presence of neuroendocrine dysfunction in iGCT.

Objective:To summarized the clinical characteristics of intracranial germ cell tumors（iGCTs）in children, with the ultimate goal of facilitating early tumor identification and guiding the prompt selection of appropriate treatment strategies.Methods:A retrospective analysis was conducted on pediatric patients with primary iGCTs admitted to Beijing Tiantan Hospital Affiliated to Capital Medical University between March 2021 and June 2022. Patient age, gender, clinical manifestations, tumor marker levels in cerebrospinal fluid (CSF) and blood, imaging features, and histopathological examination results were meticulously collected and statistically analyzed.Results:A total of 126 pediatric patients with iGCTs were included in the study, of which 86 cases (68.3%) were male,and 40 cases (31.7%) were female.The average age was (10.0 ± 3.5) years old. The mean age of onset was found between 6~14 years old(80.1%), with a male-to-female ratio of 2.2:1.The tumors were predominantly located in the sellar region (30.2%), basal ganglia (23.8%), and pineal region (19.8%). Notably, there were distinct differences in tumor location across different age groups: pineal region tumors were most prevalent in preschool children (71.4%), basal ganglia tumors were more common in school-age children (41.9%), and sellar region involvement was highest among adolescent patients(44.8%). Based on molecular marker analysis and biopsy diagnosis, 79 cases were classified as germinoma, 3 as teratoma, 2 as yolk sac tumor, 1 as choriocarcinoma, and 41 as mixed germinoma.All children underwent head CT and MRI examinations. Among them, 99 cases showed high-density lesions on CT,while 27 cases showed mixed density,including 39 cases of calcification and 35 cases of hydrocephalus.MRI revealed atrophy of the cerebral peduncle, caudate nucleus head, or cerebral cortex in 38 cases, involvement of the basal ganglia in 33 cases, and midbrain involvement in 5 cases.Blood β-human chorionic gonadotropin (β-HCG) and alpha-fetoprotein (AFP) levels were examined in all patients, while CSF tumor marker levels were analyzed in 103 cases. There were 76 cases with elevated β-HCG in blood and/or cerebrospinal fluid, and 24 cases with elevated AFP in blood and/or CSF.Additionally, all 86 male patients underwent genital ultrasound, revealed testicular microlithiasis in 12 cases and testicular cysts in 6 cases.Conclusion:The clinical presentation of iGCTs in pediatric patients exhibits significant heterogeneity in terms of epidemiology, classification, tumor location, and molecular markers. Notably, CSF β-HCG and AFP levels are equally crucial diagnostic indicators alongside blood tumor markers.Histological examination should be performed as early as possible in clinically suspected cases with negative tumor markers. Clinicians should remain vigilant for early imaging negative potential cases. In addition, male children with testicular microlithiasis or cysts should be closely followed up.

Objective:To summarized the clinical characteristics of intracranial germ cell tumors（iGCTs）in children, with the ultimate goal of facilitating early tumor identification and guiding the prompt selection of appropriate treatment strategies.Methods:A retrospective analysis was conducted on pediatric patients with primary iGCTs admitted to Beijing Tiantan Hospital Affiliated to Capital Medical University between March 2021 and June 2022. Patient age, gender, clinical manifestations, tumor marker levels in cerebrospinal fluid (CSF) and blood, imaging features, and histopathological examination results were meticulously collected and statistically analyzed.Results:A total of 126 pediatric patients with iGCTs were included in the study, of which 86 cases (68.3%) were male,and 40 cases (31.7%) were female.The average age was (10.0 ± 3.5) years old. The mean age of onset was found between 6~14 years old(80.1%), with a male-to-female ratio of 2.2:1.The tumors were predominantly located in the sellar region (30.2%), basal ganglia (23.8%), and pineal region (19.8%). Notably, there were distinct differences in tumor location across different age groups: pineal region tumors were most prevalent in preschool children (71.4%), basal ganglia tumors were more common in school-age children (41.9%), and sellar region involvement was highest among adolescent patients(44.8%). Based on molecular marker analysis and biopsy diagnosis, 79 cases were classified as germinoma, 3 as teratoma, 2 as yolk sac tumor, 1 as choriocarcinoma, and 41 as mixed germinoma.All children underwent head CT and MRI examinations. Among them, 99 cases showed high-density lesions on CT,while 27 cases showed mixed density,including 39 cases of calcification and 35 cases of hydrocephalus.MRI revealed atrophy of the cerebral peduncle, caudate nucleus head, or cerebral cortex in 38 cases, involvement of the basal ganglia in 33 cases, and midbrain involvement in 5 cases.Blood β-human chorionic gonadotropin (β-HCG) and alpha-fetoprotein (AFP) levels were examined in all patients, while CSF tumor marker levels were analyzed in 103 cases. There were 76 cases with elevated β-HCG in blood and/or cerebrospinal fluid, and 24 cases with elevated AFP in blood and/or CSF.Additionally, all 86 male patients underwent genital ultrasound, revealed testicular microlithiasis in 12 cases and testicular cysts in 6 cases.Conclusion:The clinical presentation of iGCTs in pediatric patients exhibits significant heterogeneity in terms of epidemiology, classification, tumor location, and molecular markers. Notably, CSF β-HCG and AFP levels are equally crucial diagnostic indicators alongside blood tumor markers.Histological examination should be performed as early as possible in clinically suspected cases with negative tumor markers. Clinicians should remain vigilant for early imaging negative potential cases. In addition, male children with testicular microlithiasis or cysts should be closely followed up.

To explore the clinical characteristics of primary intracranial germ cell tumors (iGCT) and analyze the risk factors for the occurrence of neuroendocrine dysfunction.Methods:A case series study was conducted. The data of 130 children diagnosed with iGCT who were admitted to the Department of Pediatrics, Beijing Tiantan Hospital, Capital Medical University, from February 2021 to December 2023 was collected. The clinical characteristics of iGCT were summarized, including general information, clinical manifestations, imaging findings, laboratory tests and outcomes. Children were divided into groups aged 0-9 and 10-18 years, and divided into group non-neuroendocrine dysfunction, group partial neuroendocrine dysfunction and group combined hypothalamic and pituitary-target gland axis dysfunction. Multivariate Logistic regression was employed for statistical analysis to identify risk factors for neuroendocrine dysfunction in iGCT children.Results:A total of 130 iGCT children were included, with an age of (10±3) years, 87 males and 43 females. Among them, 82 children (63.1%) had germinoma and 48 children (36.9%) had non-germinomatous germ cell tumors (NGGCT). One hundred and ten children (84.6%) had single lesions, including 47 cases in the sellar region, 29 cases in the pineal region and 34 cases in the basal ganglia region. Multi-leisions presented in the 20 children (15.4%), with 10 cases in the sellar+pineal region, 6 cases in the sellar+basal ganglia region, 3 cases in the pineal+ganglia region and 1 case in the sellar+pineal+basal ganglia region. Dissemination was presented to 26 children (20.0%). Initial clinical manifestations presented with symptoms of cranial hypertension like headache and vomiting in 75 cases, vision changes in 28 cases, limb movement disorders in 42 cases, diabetes insipidus in 67 cases, precocious puberty in 23 cases, growth retardation in 22 cases and delayed puberty in 2 cases. Among the 72 children aged 0-9 years, 37 cases (51.4%) had germinoma and 35 cases (48.6%) had NGGCT, while among the 58 children aged 10-18 years, 45 cases (77.6%) had germinoma and 13 cases (22.4%) had NGGCT. Non neuroendocrine dysfunction group included 39 children, partial neuroendocrine dysfunction group 54 children, and combined hypothalamic and pituitary-target gland axis dysfunction group 37 children. Univariate analysis showed statistical difference in gender, disease duration, tumor location, and serum human chorionic gonadotropin level among the 3 groups (all P<0.05). Multivariate Logistic regression analysis revealed that girl ( OR=5.29, 95% CI 1.54-18.16) and long disease duration ( OR=1.07, 95% CI 1.01-1.14) were risk factors for neuroendocrine dysfunction in iGCT patients (both P<0.05). Conclusions:iGCT occurs in children of all ages, with a higher incidence in males. The proportions of germinoma and NGGCT are similar in children aged 0-9 years, while germinoma is more common in patients aged 10-18 years. The clinical symptoms are atypical and diverse. Female gender and longer disease duration demonstrate the presence of neuroendocrine dysfunction in iGCT.

Objective:To investigate the clinical features, gene mutation and follow-up outcome of children with paroxysmal kinesigenic dyskinesia(PKD).Methods:Clinical data was collected at Beijing Tiantan Hospital Affiliated to Capital Medical University from November 2018 to November 2019.In total, seven children with PKD were recruited, and peripheral blood samples for gene study were collected from six patients and their parents.Mutation analysis of PRRT2 gene was performed by PCR sequencing in children and by Sanger sequencing in patients.Results:Of the seven patients, four were male and three were female, and the median age of onset was 11 years and 6 months, ranging from 5 to 14 years.Among them, two patients were family cases and the other five patients were sporadic cases.The presentation were abnormal involuntary movements provoked by sudden movements, without loss of consciousness.Five patients exhibited dystonia and two patients had dystonia and choreoathetosis.The duration of the attacks lasted for a few seconds to 40 seconds.The frequency ranged from 5 to 15 times per day.PRRT2 mutations, c.649_650insC(P.R217PfsX8), were found in two patients with PKD families and three sporadic PKD cases.Conclusion:The onset age of PKD is pre-school or school age.The attacks manifest as dystonia or mixed with dystonia and choreoathetosis.PRRT2 is the main pathogenic gene of PKD and mutation c. 649_650insC is the hotspot mutation.Low-dose Carbamazepine has good effects.

Carcinoembryonic Antigen ; Diagnosis ; Drug Therapy ; Humans ; Lymph Nodes ; Male ; Neoplasm Metastasis ; ROC Curve ; Sensitivity and Specificity ; Stomach Diseases ; Stomach Neoplasms