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1.
Jpn J Clin Oncol ; 53(6): 501-507, 2023 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-36974697

RESUMEN

BACKGROUND: The details of gastrointestinal bleeding/ulcer in paediatric cancer patients treated with proton beam therapy have not been reported previously. METHODS: Patients aged 15 years or younger at the time of proton beam therapy and whose gastrointestinal tract was included in the irradiated field participated. RESULTS: A total of 124 patients participated in the study; their median age at irradiation was 5.4 years. Concurrent chemotherapies were vincristine-cyclophosphamide (16 patients), irinotecan-based treatment (16 patients), vincristine-cyclophosphamide-ifosfamide-etoposide (14 patients), other chemotherapy (27 patients) and no chemotherapy (51 patients). Gastrointestinal bleeding/ulcer occurred in four patients (3.2%), with no death due to the bleeding/ulcer. The sites of the gastrointestinal bleeding/ulcer were the stomach (two patients) and the duodenum (two patients). The ages of the four patients at PBT were 5.3, 13.8, 14.2 and 14.8 years, which were significantly older than those of patients without GI bleeding/ulcer (p = 0.017). The maximum irradiated doses to the GI tract in the four patients were 43.2, 45, 50.4 and 50.4 gray equivalent, respectively. The concomitant chemotherapy was vincristine-cyclophosphamide-ifosfamide-etoposide 3 and vincristine-cyclophosphamide 1. Weeks from proton beam therapy to bleeding/ulcer were 15, 20, 22 and 264. DISCUSSION AND CONCLUSIONS: Patients who developed gastrointestinal bleeding/ulcer were treated concurrently with vincristine-cyclophosphamide-ifosfamide-etoposide or vincristine-cyclophosphamide, and their ages were older than those of patients without gastrointestinal bleeding/ulcer. Bleeding occurred in the upper gastrointestinal tract in all the cases, and most cases occurred early and during chemotherapy. Upper gastrointestinal irradiation in older children undergoing intensive chemotherapy may increase the risk of developing gastrointestinal complications.


Asunto(s)
Neoplasias , Terapia de Protones , Niño , Humanos , Preescolar , Ifosfamida/efectos adversos , Etopósido , Vincristina/efectos adversos , Úlcera , Terapia de Protones/efectos adversos , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Doxorrubicina , Ciclofosfamida/efectos adversos , Neoplasias/complicaciones , Neoplasias/tratamiento farmacológico , Neoplasias/radioterapia , Hemorragia Gastrointestinal/inducido químicamente
2.
Int J Clin Oncol ; 28(7): 928-939, 2023 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-37209157

RESUMEN

PURPOSE: Whilst proton beam therapy (PBT) for children with cancer is expected to reduce their comorbidities, to date only a limited number of studies have been published. To analyze the long-term comorbidity and health-related quality of life (HRQoL) of childhood cancer survivors (CCSs) after PBT, we conducted a questionnaire-based study. METHODS: Questionnaires were sent to CCSs who underwent PBT at the University of Tsukuba Hospital during the period from 1984 to 2020. Scores from 41 CCSs who did not undergo PBT (noPBT-CCSs) and from the general population were used for comparison. RESULTS: In total, 110 individuals who underwent PBT participated in the study. Among them, 40 individuals were longitudinally analyzed. The range of change in the scores was significantly greater in the CCSs whose initial scores were low. Although the comorbidity levels were more severe, HRQoL tended to be better in the PBT-CCSs than in the noPBT-CCSs with central nervous system (CNS) or solid tumors, respectively. When compared with the general population, the psychosocial health summary scores and its components were not different in the noPBT-CNS-CCSs. On the other hand, the psychosocial health summary scores and/or at least one of the scores of emotional, social, and school functioning were significantly higher in the other CCSs groups. CONCLUSIONS: The HRQoL scores of CCSs with low initial scores can be greatly changed over time. Appropriate psychosocial support for this population is warranted. PBT may avoid reduction in HRQoL in terms of the psychosocial functioning of CCSs with CNS tumors.


Asunto(s)
Supervivientes de Cáncer , Neoplasias del Sistema Nervioso Central , Neoplasias , Terapia de Protones , Humanos , Niño , Supervivientes de Cáncer/psicología , Neoplasias/radioterapia , Calidad de Vida/psicología , Sobrevivientes
3.
Childs Nerv Syst ; 39(8): 2245-2249, 2023 08.
Artículo en Inglés | MEDLINE | ID: mdl-37085623

RESUMEN

Dural sinus malformations (DSMs) are rare congenital vascular diseases characterized by a giant venous pouch with or without arteriovenous shunts. We present a neonatal case of DSM that was diagnosed prenatally and treated via endovascular intervention in the early postnatal period. The patient presented with a large DSM involving the torcular Herophilion prenatal magnetic resonance imaging (MRI). Enlargement of the head circumference and respiratory failure rapidly progressed after birth. On the 5th day after birth, the neonate underwent endovascular occlusion via the umbilical artery. The arteriovenous shunt was occluded, and the reflux from the enlarged venous pouch to the dural sinus was decreased. No additional procedure other than ventriculoperitoneal shunting was required. The neonate's development slowly caught up to normal parameters. Follow-up MRI demonstrated the successful development of the venous drainage system. DSMs are characterized by an abnormally dilated dural sinus, which can block the venous return and ultimately increase intracranial pressure and cerebral ischemia. Long-term follow-up indicates that an abnormally developed dural sinus can be reconstructed by appropriate and timely treatment.


Asunto(s)
Malformaciones Vasculares del Sistema Nervioso Central , Embolización Terapéutica , Recién Nacido , Embarazo , Femenino , Humanos , Senos Craneales/diagnóstico por imagen , Senos Craneales/cirugía , Senos Craneales/anomalías , Malformaciones Vasculares del Sistema Nervioso Central/diagnóstico por imagen , Malformaciones Vasculares del Sistema Nervioso Central/cirugía , Imagen por Resonancia Magnética , Embolización Terapéutica/métodos , Drenaje , Angiografía Cerebral
4.
Oncology ; 100(3): 163-172, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-34959239

RESUMEN

Brain tumors affect one-third of all children with cancer. Approximately 10% of children with cancer carry variants in cancer-predisposition genes. However, germline analyses in large cohorts of Asian children have not been reported. Thirty-eight Japanese patients with pediatric brain tumors were included in this study (19 boys, 19 girls). DNA was extracted from the patients' peripheral blood, and cancer-associated genes were analyzed using targeted resequencing. Rare variants with allele frequencies <0.1% in the general population and variants suspected to be pathogenic were extracted and analyzed. Pathogenic variants were found in 7 patients (18%): 2 nonsense variants of CHEK2 and FANCI; 2 frameshift deletions in SMARCB1 and PTCH1; and 3 missense variants of TSC1, WRN, and MLH1. The median age at diagnosis was 9.1 years, and three of the 7 patients had a family history of cancer. One patient diagnosed with basal cell nevus syndrome, also called Gorlin syndrome, developed a second neoplasm, and another with an SMARCB1 variant and an atypical teratoid/rhabdoid tumor developed a thyroid adenomatous nodule. This is the first cancer-related germline analysis with detailed clinical information reported in Japanese children with brain tumors. The prevalence was almost equivalent to that in white children.


Asunto(s)
Neoplasias Encefálicas/genética , Predisposición Genética a la Enfermedad , Mutación , Adolescente , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Homólogo 1 de la Proteína MutL/genética , Receptor Patched-1/genética , Proteína SMARCB1/genética , Proteína 1 del Complejo de la Esclerosis Tuberosa/genética , Helicasa del Síndrome de Werner/genética
5.
Childs Nerv Syst ; 38(6): 1209-1212, 2022 06.
Artículo en Inglés | MEDLINE | ID: mdl-34546411

RESUMEN

Mutations in ACTA2 gene can lead to multisystemic smooth muscle dysfunction, including cerebrovascular disease. Treatment strategies for this rare entity remain controversial, and patients are at increasing risk of neurological sequelae. We herein present the case of an 11-year-old boy previously diagnosed with an ACTA2 gene mutation who developed repetitive transient ischemic attacks and treated with bosentan, an oral endothelin receptor antagonist. Magnetic resonance imaging revealed bilateral, periventricular white matter T2 hyperintensities, and magnetic resonance angiography identified several abnormalities including fusiform dilatation in the proximal segments of internal cerebral arteries, together with followed by terminal segmental stenosis. The distal branches showed a markedly straightened course with no increase in lenticulostriate collaterals. Magnetic resonance imaging also revealed an increase in the number and size of large periventricular white matter lesions located in the left frontal lobe with the progression of ischemic symptoms. Instead of revascularization surgery, the administration of bosentan was started due to the high risk of perioperative ischemic sequelae. After bosentan initiation, the patient's repetitive episodes of cerebral ischemia ceased, and there has been no increase in the number of white matter lesions for 7 years. Bosentan might be beneficial for treating cerebral ischemia associated with ACTA2 cerebral arteriopathy by maintaining the dilatation of stenotic vessels and adequate systemic blood flow and should be considered before performing revascularization surgery.


Asunto(s)
Isquemia Encefálica , Enfermedades Arteriales Cerebrales , Trastornos Cerebrovasculares , Actinas , Bosentán/uso terapéutico , Angiografía Cerebral , Enfermedades Arteriales Cerebrales/genética , Enfermedades Arteriales Cerebrales/cirugía , Infarto Cerebral , Niño , Humanos , Imagen por Resonancia Magnética , Masculino
6.
J Pediatr Hematol Oncol ; 43(8): e1205-e1209, 2021 11 01.
Artículo en Inglés | MEDLINE | ID: mdl-33235149

RESUMEN

Pediatric brain tumor survivors who received proton beam therapy at the University of Tsukuba Hospital from 2004 to 2011 were retrospectively evaluated for cognitive function. Five patients were included. The median age of diagnosis was 5.4 years (range: 1.5 to 12.5 y) and the median follow-up time was 5.8 years (range: 3.1 to 8.1 y). IQ scores at follow-up were decreased in 2 of 5 patients; 1 underwent whole-brain irradiation and the other was examined just after surgical removal of recurrent tumors. Local proton beam therapy may preserve cognitive function in survivors of pediatric brain tumors.


Asunto(s)
Neoplasias Encefálicas/radioterapia , Supervivientes de Cáncer/estadística & datos numéricos , Cognición/fisiología , Terapia de Protones/métodos , Adolescente , Neoplasias Encefálicas/patología , Niño , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Lactante , Masculino , Pronóstico , Estudios Retrospectivos , Tasa de Supervivencia
7.
Childs Nerv Syst ; 37(4): 1151-1158, 2021 04.
Artículo en Inglés | MEDLINE | ID: mdl-33241438

RESUMEN

PURPOSE: The authors sought to determine whether the insertion of an external ventricular drain (EVD) at the time of surgery to monitor intracranial pressure (ICP) and ventriculography done within the first day following an endoscopic third ventriculostomy (ETV) is of benefit in postoperative patient management. METHODS: Following IRB approval, ETV procedures done by the senior author between January 1, 2007, and December 31, 2016, were reviewed. Included in a consecutive fashion were all patients who underwent an ETV with placement of an external ventricular drain (EVD) that was preceded preoperatively by an MRI or CT study and followed by a contrast CT ventriculogram within the first postoperative day. RESULTS: Identified were 72 patients who met the above criteria; however, technical ventriculography failure occurred in 4 (6%) and were eliminated from the analysis. Of the remaining 68 patients, contrasted CSF was seen in the basal cisterns/subarachnoid spaces (SAS) in 66 (97%) indicating a patent ETV and absent in 2 (3%) indicating a non-patent ETV. Of the 66 patients with a patent ETV, 34 (52%) patients were discharged on postoperative days 1 (8), 2 (13), and 3 (13) as their ICPs were not elevated and their clinical symptoms normal. EVDs placed at the time of the ETV recorded raised ICP > 20 cm H2O in 17/68 (25%) patients for 1 or more days, all of whom had a patent ETV. Because of persistently elevated ICP requiring CSF drainage for control, 4 of these patients were shunted on postoperative days 5, 6, 6, and 10 and 3 with prolonged elevated ICP for 5, 6, and 11 days postoperatively were not shunted as their ICP and symptoms progressively normalized. The remaining 17/68 (25%) patients did not have a postoperative ICP > 20 cm H2O; 14 were discharged after resolution of symptoms and other clinical factors, 1 was shunted on postoperative day 3 due to persistent symptoms and a consistently large volume of CSF drainage, and 2 had a non-patent ETV with 1 undergoing shunt placement and the other discharged because of the absence of symptoms. The sensitivity of ventriculography was only 13%; however, the specificity was 98% and the accuracy 88%. CONCLUSION: After reviewing this series, the continued use of a postoperative EVD appears appropriate as the risk is low and it provides ventricular access to control ICP, thereby, improving patients' safety and reducing the need for CSF shunting on an urgent/emergent basis should the ETV prove to be unsuccessful. From our limited series, the usefulness of a 1-day postoperative ETV ventriculogram is less clear and would need confirmation with additional studies.


Asunto(s)
Hidrocefalia , Neuroendoscopía , Tercer Ventrículo , Humanos , Hidrocefalia/diagnóstico por imagen , Hidrocefalia/cirugía , Presión Intracraneal , Estudios Retrospectivos , Tercer Ventrículo/diagnóstico por imagen , Tercer Ventrículo/cirugía , Resultado del Tratamiento , Ventriculostomía/efectos adversos
8.
Childs Nerv Syst ; 37(4): 1339-1343, 2021 04.
Artículo en Inglés | MEDLINE | ID: mdl-32691197

RESUMEN

Kabuki syndrome (KS) is a congenital disorder characterized by distinctive facial features, skeletal and dermatoglyphic abnormalities, mild-to-moderate intellectual disability, and postnatal growth deficiency. Recently, mutations in the KMT2D and KDM6A genes have been identified as the causative factors in most KS cases. In this study, we present three cases of KS associated with tethered cord syndrome. All cases had a sacral dimple, which is a skin stigmata, and radiological abnormalities, including fatty or thickened filum terminale. Untethering surgery was performed and clinical improvement was achieved. Although in the association between KS and closed neural tube defect (NTD) has rarely been discussed, we emphasize that sacral dimples in KS and tethered cord syndrome are not uncommon. The KS patients with sacral dimple must be carefully investigated by radiological examination and urological study if there is abnormality. Further understanding of the genetic mechanism underlying KS might provide a novel insight on the correlation between the genetics and development of closed NTDs.


Asunto(s)
Anomalías Múltiples , Enfermedades Hematológicas , Defectos del Tubo Neural , Enfermedades Vestibulares , Anomalías Múltiples/diagnóstico por imagen , Anomalías Múltiples/genética , Cara/anomalías , Enfermedades Hematológicas/complicaciones , Enfermedades Hematológicas/genética , Humanos , Defectos del Tubo Neural/complicaciones , Defectos del Tubo Neural/diagnóstico por imagen , Defectos del Tubo Neural/genética
9.
Childs Nerv Syst ; 37(2): 567-572, 2021 02.
Artículo en Inglés | MEDLINE | ID: mdl-32767105

RESUMEN

PURPOSE: The occipital bone is located on the boundary between the membranous and cartilage bones and contains a wide variety of accessory sutures. In this study, we describe the age distribution of pediatric patients who are less than 2 years of age with occipital cranial sutures using a three-dimensional computed tomography (3D-CT). METHODS: A total of 167 consecutive patients who are less than 2 years of age and underwent computed tomography for head trauma were included in this study. RESULTS: Based on the results of this study, various types of sutures were observed among the pediatric participants. In particular, superior median fissures, mendosal sutures, other interparietal segment's accessory sutures, and interparietal sutures were noted in 21%, 35%, 9%, and 6% of the participants, respectively. Additionally, Wormian bones within the lambdoid suture were noted in 32% of the patients. The median age of children with superior median fissure and mendosal suture was 0 month. Meanwhile, superior median fissure was not observed among children older than 5 months of age. In this population, 13 patients (8%) were found to have skull fracture. CONCLUSIONS: Knowledge of the normal cranial anatomy and developmental patterns of cranial sutures is crucial in the evaluation of questionable fractures in the occipital region. A combination of 3D-CT and axial bone window imaging is useful in differentiating normal structures from pathological changes in the cranium.


Asunto(s)
Traumatismos Craneocerebrales , Fracturas Craneales , Niño , Preescolar , Suturas Craneales/diagnóstico por imagen , Humanos , Lactante , Hueso Occipital/diagnóstico por imagen , Hueso Occipital/cirugía , Tomografía Computarizada por Rayos X
10.
Acta Neurochir (Wien) ; 163(11): 3191-3199, 2021 11.
Artículo en Inglés | MEDLINE | ID: mdl-34338879

RESUMEN

BACKGROUND: Patients with neurohypophyseal germ cell tumors (GCTs) typically present with visual problems. Hence, this study aimed to assess optic pathway involvement based on clinical and radiological findings and to validate the outcome of visual function. METHODS: A total of 16 patients with newly diagnosed neurohypophyseal GCTs who were treated at the University of Tsukuba Hospital between 2000 and 2020 were included in this study. RESULTS: The median interval from symptom onset to diagnosis was 173.5 days (range, 33-1588 days). Patients with visual disturbance at diagnosis had a longer time to diagnosis compared with those without. Ophthalmologic abnormalities were frequently observed, with an incidence rate of 69%. Fifty percent of patients exhibited optic pathway involvement detected via magnetic resonance imaging (MRI). Visual impairment was more severe in the patients with optic pathway involvement (p = 0.002). Post-treatment visual impairment was improved but was still significantly severe in patients with optic pathway involvement than in those without involvement (p = 0.010). Visual field deficit more likely remained with an improvement rate of 50%, whereas the improvement rate of visual acuity was 78%. Further, none developed late-onset visual deterioration during the follow-up period. CONCLUSIONS: Visual disturbance and optic pathway involvement are common in neurohypophyseal GCTs. Visual impairment particularly in patients with optic pathway involvement on MRI is more likely to remain at follow-up, although the outcome of visual function is acceptable in most cases.


Asunto(s)
Neoplasias de Células Germinales y Embrionarias , Trastornos de la Visión , Humanos , Imagen por Resonancia Magnética , Neoplasias de Células Germinales y Embrionarias/diagnóstico por imagen , Estudios Retrospectivos , Trastornos de la Visión/etiología , Agudeza Visual
11.
Childs Nerv Syst ; 36(9): 2047-2054, 2020 09.
Artículo en Inglés | MEDLINE | ID: mdl-32157367

RESUMEN

PURPOSE: We aimed to identify factors that affect the time to diagnosis in pediatric brain tumors and investigate the effect of time to diagnosis on clinical outcome. METHODS: A retrospective study of children with brain tumors aged less than 18 years diagnosed at the University of Tsukuba Hospital over a period of 7 years was conducted. RESULTS: Eighty-five consecutive patients, with a mean age of 9.1 years, were included in the study. The median interval from symptom onset to diagnosis was 45 days (range 0-1673); median interval from symptom onset to first presentation was 31.0 days; and median interval from first presentation to diagnosis was 13.5 days. Germinoma had the longest interval from symptom onset to first presentation, and from first presentation to diagnosis. Patients presenting with endocrine disorder had a significantly longer interval from symptom onset to first presentation (p = 0.019); those with visual disturbance (p = 0.016) or endocrine disorder (p = 0.030) had significantly longer intervals from first presentation to diagnosis. CONCLUSION: Pediatric brain tumor patients with germinoma and presenting symptoms of endocrine disorder or visual disturbance have a longer time to diagnosis. Although improved prognosis is not clearly related to a shorter time to diagnosis, we believe that early diagnosis can lead to improved treatment and better quality of life. A detailed medical history and neuroimaging studies at the earliest time possible are important for early diagnosis.


Asunto(s)
Neoplasias Encefálicas , Calidad de Vida , Neoplasias Encefálicas/diagnóstico por imagen , Niño , Diagnóstico Precoz , Humanos , Estudios Retrospectivos , Factores de Tiempo
12.
Childs Nerv Syst ; 36(3): 507-512, 2020 03.
Artículo en Inglés | MEDLINE | ID: mdl-31728705

RESUMEN

INTRODUCTION: Diffuse intrinsic pontine glioma (DIPG) is a type of brain malignancy with a very poor prognosis. Although various radiation and chemotherapy protocols have been attempted, only conventional radiotherapy has yielded improvements in survival. In this study, we aimed to compare proton therapy versus conventional photon radiotherapy in terms of the outcomes of pediatric patients with DIPG. METHODS: This retrospective review included 12 pediatric patients with newly diagnosed DIPG who received a total proton therapy dose of 54 Gy (relative biological effectiveness) in 30 fractions at the University of Tsukuba Hospital between 2011 and 2017 (proton group). We additionally reviewed the medical records of 10 patients with DIPG who previously underwent conventional photon radiotherapy at our institute (historical cohort). RESULTS: The median progression-free survival (PFS) duration was 5 months (range 1-11 months), and the 6-, 12-, and 18-month PFS rates were 50%, 33%, and 25%, respectively. The median overall survival (OS) duration was 9 months (range 4-48 months), and the 6-, 12-, 18-, and 24-month OS rates were 66.8%, 50%, 41%, and 20%, respectively. There were no significant differences in survival between the proton and historical groups (PFS, p = 0.169 and OS, p = 0.16). CONCLUSIONS: Proton therapy was well tolerated by the majority of patients. No severe adverse events, including radiation necrosis, were recorded. Proton therapy did not yield superior survival outcomes vs. conventional photon radiotherapy in patients with DIPG at our institution. Further research is needed to identify the factors associated with better survival in this population.


Asunto(s)
Neoplasias del Tronco Encefálico , Glioma Pontino Intrínseco Difuso , Glioma , Terapia de Protones , Neoplasias del Tronco Encefálico/radioterapia , Niño , Glioma/radioterapia , Humanos , Estudios Retrospectivos
13.
Childs Nerv Syst ; 35(12): 2423-2426, 2019 12.
Artículo en Inglés | MEDLINE | ID: mdl-31385089

RESUMEN

Intracranial mature teratomas have good prognoses and are usually treated by total tumor resection. We report a rare case of a germinoma that occurred 11 years after total removal of a pineal mature teratoma. A 5-year-old boy presented with headache and nausea and was diagnosed with a pineal tumor and obstructive hydrocephalus on MRI. He underwent total removal of the lesion, which was pathologically diagnosed as a mature teratoma without any other germ cell tumor components. MR images after 11 years showed a newly developed pineal tumor, which was confirmed as a germinoma after neuroendoscopic biopsy. Chemoradiotherapy resulted in complete remission, without any symptoms. This case demonstrated possible late occurrence of germinoma even after total removal of a mature teratoma had been achieved. A long-term follow-up of 10 years or more should be planned for these patients.


Asunto(s)
Germinoma/patología , Neoplasias Primarias Secundarias/patología , Pinealoma/patología , Teratoma/patología , Adolescente , Preescolar , Humanos , Masculino
14.
Childs Nerv Syst ; 35(9): 1615-1619, 2019 09.
Artículo en Inglés | MEDLINE | ID: mdl-30796559

RESUMEN

Primary intracranial germinoma is a rare central nervous system tumor that usually arises in the pineal and the supra-sellar region. Here, we report a rare case of primary intracavernous sinus germinoma with an atypical extension pattern, with a comparison to germinomas originating from the cavernous sinus as described in the existing literature. A 12-year-old boy was admitted to our hospital with the chief complaint of the left-side ptosis and double vision. Magnetic resonance imaging showed homogenous enhanced mass lesion in the pineal region together with mass lesions in the lateral ventricle, left cavernous sinus, and temporal lobe, extending into the left masticator space. The enhanced mass in the intracavernous sinus originated from the cavernous sinus. Endoscopic third ventriculostomy and tumor biopsy was done. Pathological diagnosis was pure germinoma. After six courses of chemotherapy followed by radiation therapy, all the lesions decreased in size significantly. Only faint enhancement around the masticator space remained. We report a rare case of a germinoma that developed mainly in the cavernous sinus with additional tumor masses in the pineal region, ventricles, and temporal lobe. Although the lesions shrank significantly on the post-chemoradiation imaging, a long follow-up is necessary not only to check for symptoms, but also monitor imaging findings for possible serial changes in the residual region of the masticator space.


Asunto(s)
Neoplasias Encefálicas/patología , Seno Cavernoso/patología , Germinoma/patología , Neoplasias Encefálicas/diagnóstico por imagen , Neoplasias Encefálicas/cirugía , Seno Cavernoso/diagnóstico por imagen , Seno Cavernoso/cirugía , Niño , Germinoma/diagnóstico por imagen , Germinoma/cirugía , Humanos , Imagen por Resonancia Magnética , Masculino , Resultado del Tratamiento , Ventriculostomía
15.
Pediatr Neurosurg ; 54(6): 419-423, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31597145

RESUMEN

INTRODUCTION: Terminal deletion of chromosome 6q is a rare chromosomal abnormality associated with intellectual disabilities and various structural brain abnormalities. We present a case of 6q terminal deletion syndrome with unusual magnetic resonance imaging (MRI) findings in a neonate. CASE PRESENTATION: The neonate, who was prenatally diagnosed with dilation of both lateral ventricles, was born at 38 weeks of gestation. MRI demonstrated abnormal membranous structure continuing to the hypertrophic massa intermedia in the third ventricle that had obscured the cerebrospinal fluid pathway, causing hydrocephalus. G-band analysis revealed a terminal deletion of 6q with the karyotype 46, XY, add(6)(q25.3) or del(6)(q26). He underwent ventriculoperitoneal shunt successfully, and his head circumference has been stable. DISCUSSION/CONCLUSION: 6q terminal deletion impacts the molecular pathway, which is an essential intracellular signaling cascade inducing neurological proliferation, migration, and differentiation during neuronal development. In patients with hydrocephalus in association with hypertrophy of the massa intermedia, this chromosomal abnormality should be taken into consideration. This case may offer an insight into the pathogenesis of hydrocephalus in this rare chromosomal abnormality.


Asunto(s)
Deleción Cromosómica , Cromosomas Humanos Par 6 , Hidrocefalia/diagnóstico por imagen , Anomalías Múltiples/etiología , Humanos , Hidrocefalia/cirugía , Recién Nacido , Imagen por Resonancia Magnética , Masculino , Derivación Ventriculoperitoneal
16.
Pediatr Int ; 59(10): 1039-1045, 2017 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-28503890

RESUMEN

BACKGROUND: The rate of childhood cancer survival has recently reached >80%. Various adverse events among childhood cancer survivors (CCS) have been reported. Proton beams are able to avoid unnecessary irradiation to normal/vital organs. We conducted a quality of life (QOL) study for CCS who were treated with proton beam therapy (PBT). METHODS: We included those patients treated with PBT to the brain, head, or neck and who were ≤15 years old at the University of Tsukuba Hospital between 1983 and 2011. Clinical information was collected from medical records. Questionnaires including the Pediatric Quality of Life Inventory (PedsQL) 4.0 Generic Core Scales (which assess health-related quality of life) were sent to the families/patients. RESULTS: Sixty patients were included. Median age at treatment was 6.2 years. The number of patients with status alive/dead/unknown was 32/24/4. Median follow-up period was 63.0 months (range, 48-340 months) for survivors. Questionnaires were sent to 25 families/patients and 19 were returned. PedsQL was assessed for 17 patients. Eleven of 32 living patients had at least one comorbidity grade 3/4. Average QOL score was above that for Japanese schoolchildren and adolescents. There was no correlation with comorbidity, and only longer time from treatment was correlated with a higher PedsQL score (P = 0.006). CONCLUSION: CCS who were treated with multimodal treatment using PBT had a higher QOL score. Higher score was related to longer time since treatment, regardless of comorbidity.


Asunto(s)
Neoplasias Encefálicas/epidemiología , Neoplasias Encefálicas/radioterapia , Supervivientes de Cáncer , Neoplasias de Cabeza y Cuello/epidemiología , Neoplasias de Cabeza y Cuello/radioterapia , Terapia de Protones , Calidad de Vida , Adolescente , Niño , Preescolar , Comorbilidad , Femenino , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Japón/epidemiología , Masculino
17.
Pediatr Int ; 57(4): 567-71, 2015 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-25754294

RESUMEN

BACKGROUND: The aim of this study was to evaluate the efficacy of proton beam therapy for pediatric patients with ependymoma. METHODS: Proton beam therapy was conducted for six patients (three boys and three girls; age, 2-6 years; median, 5 years) with ependymoma. The tumors were WHO grades 2 and 3 in two and four patients, respectively. All patients underwent surgery (subtotal and gross total resection in three patients each) and proton beam therapy at doses of 50.4-61.2 GyE (median, 56.7 GyE). The mean doses to normal brain tissue in proton beam therapy and photon radiotherapy were simulated using the same treatment planning computed tomography images. RESULTS: All patients completed the planned irradiation. The follow-up period was 13-44 months (median, 24.5 months) from completion of proton beam therapy and all patients were alive at the end of this period. Local recurrence in the treatment field occurred in one patient at 4 months after proton beam therapy at 50.4 GyE. Alopecia and mild dermatitis occurred in all patients, but there was no severe toxicity. One patient had a once-off seizure after proton beam therapy and alopecia persisted in another patient for 31 months, but no patients had difficulty with daily life. The simulation showed that proton beam therapy reduces the dose to normal brain tissue by approximately half compared with photon radiotherapy. CONCLUSIONS: Proton beam therapy for pediatric ependymoma is safe, does not have specific toxicities, and can reduce irradiation of normal brain tissue.


Asunto(s)
Ependimoma/radioterapia , Niño , Preescolar , Ependimoma/diagnóstico , Femenino , Estudios de Seguimiento , Humanos , Masculino , Terapia de Protones/métodos , Estudios Retrospectivos , Factores de Tiempo , Tomografía Computarizada por Rayos X , Resultado del Tratamiento
19.
Surg Neurol Int ; 14: 366, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37941640

RESUMEN

Background: Intracranial germinomas are rare tumors, accounting for 0.5-2% of primary intracranial neoplasms. While they typically occur in the pineal gland, suprasellar region, basal ganglia, and thalamus, germinomas arising in the medulla oblongata are exceptionally rare. Diagnosis of medulla oblongata germinoma is challenging, potentially leading to misdiagnosis and poor prognosis. Case Description: We present a case of a 29-year-old man complaining of left leg numbness. Radiological findings revealed a contrast-enhanced lesion in the medulla oblongata. The patient underwent tumor biopsy, and intraoperative pathological diagnosis (IOD) suspected the diagnosis of medulla oblongata germinoma. He underwent chemoradiotherapy after confirming the diagnosis of germinoma. Intracranial germinoma arising in the medulla oblongata differs from germinomas in other locations due to its higher incidence in individuals in their 20s and a slight female predominance. Conclusion: When encountering lesions in the medulla oblongata, germinoma should be considered as one of the differential diagnoses, and surgical strategies including IOD should be planned accordingly.

20.
Surg Neurol Int ; 14: 43, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36895213

RESUMEN

Background: Cerebrovascular injuries (CVIs) are not usually considered in the differential diagnosis of sport-related head injuries (SRHIs). We encountered a rugby player with traumatic dissection of the anterior cerebral artery (ACA) after impact on the forehead. Head magnetic resonance imaging (MRI) with T1-volume isotropic turbo spin-echo acquisition (VISTA) was used to diagnose the patient. Case Description: The patient was a 21-year-old man. During a rugby tackle, his forehead collided with the forehead of an opponent. He did not have a headache or disturbance of consciousness immediately after the SRHI. On the 2nd day of illness, he had transient weakness of the left lower limb several times. On the 3rd day of illness, he visited our hospital. MRI revealed occlusion of the right ACA and acute infarction of the right medial frontal lobe. T1-VISTA revealed intramural hematoma of the occluded artery. He was diagnosed with acute cerebral infarction due to dissection of the ACA and was followed up for vascular changes with T1-VISTA. The vessel had recanalized and the size of the intramural hematoma had decreased 1 and 3 months after the SRHI, respectively. Conclusion: Accurate detection of morphological changes in cerebral arteries is important for the diagnosis of intracranial vascular injuries. When paralysis or sensory deficits occur after SRHIs, it is difficult to differentiate between concussion from CVI. Athletes with red-flag symptoms after SRHIs should not merely be suspected to have concussion; they should be considered for imaging studies.

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