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1.
Iran J Parasitol ; 19(1): 113-116, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38654946

RESUMO

Echinococcosis is the most common cestode infection globally caused by the Echinococcus species. The most common organ involvement is the lungs and liver, but other organs can be rarely involved. Here, we present a case with a giant cerebral hydatid cyst. A 4-year-old boy presented with abnormal gait and walking at Marmara University School of Medicine Pendik Training and Research Hospital, Istanbul, Türkiye in September 2022. Cranial magnetic resonance imaging showed a cyst of 13 cm in diameter. The cyst was enucleated successfully with no rupture. Oral albendazole therapy was started. There was no eosinophilia, and the echinococcal indirect hemagglutination test was negative. Ultrasonography detected an anechoic cystic lesion in the liver. He was evaluated for deep-organ involvement; however, no cysts were detected in other organs. The histopathological examination was compatible with a hydatid cyst. Although intracranial hydatid disease in children is rare, it should be considered among the differential diagnoses in patients with neurological symptoms, especially in endemic regions.

2.
Childs Nerv Syst ; 2024 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-38619586

RESUMO

PURPOSE: Children under 3 years old represent a notable portion, about 25 to 30%, of all central nervous system tumor (CNS) cases. Their clinical course, prognosis, and treatment significantly differ from older children. This single-center retrospective study aims to comprehensively analyze survival factors in children under three diagnosed with CNS tumors. METHODS: Between April 2012 and December 2023, cases under 3 years of age with CNS tumors diagnosed at our center were retrospectively evaluated. RESULTS: Among 279 CNS tumor cases, 42 (15%) were evaluated. The 5-year overall and event-free survival rates were 67.4% (95% CI 47.5-81.1) and 39.8% (95% CI 24.2-55.0), respectively. Gender, symptom onset to diagnosis time, pathological neurological findings at diagnosis, and tumor location did not significantly impact survival (p > 0.05). However, cases with neurological symptoms showed significantly higher event-free survival rates (p < 0.05). Patients with embryonal tumors, metastases, inability for total surgical excision, relapsed/progressive diseases, and who under 1 year old had significantly lower survival rates (p < 0.05). Radiotherapy timing did not affect survival (p > 0.05). Event-free survival rates remained unchanged after the third year. CONCLUSION: The current treatments have been observed to have a positive impact on survival rates. Nonetheless, there is a need for novel treatments for patients with embryonal tumors, metastases, aged under 1 year, and those where total surgical excision is not feasible or in cases with progressive/relapse disease. This study underscores the importance of the first 3 years regarding relapse, progression, or mortality risk.

3.
World Neurosurg ; 182: e196-e204, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38030068

RESUMO

OBJECTIVE: The primary aim of this research was to harness the capabilities of deep learning to enhance neurosurgical procedures, focusing on accurate tumor boundary delineation and classification. Through advanced diagnostic tools, we aimed to offer surgeons a more insightful perspective during surgeries, improving surgical outcomes and patient care. METHODS: The study deployed the Mask R-convolutional neural network (CNN) architecture, leveraging its sophisticated features to process and analyze data from surgical microscope videos and preoperative magnetic resonance images. Resnet101 and Resnet50 backbone networks are used in the Mask R-CNN method, and experimental results are given. We subsequently tested its performance across various metrics, such as accuracy, precision, recall, dice coefficient (DICE), and Jaccard index. Deep learning models were trained from magnetic resonance imaging and surgical microscope images, and the classification result obtained for each patient was combined with the weighted average. RESULTS: The algorithm exhibited remarkable capabilities in distinguishing among meningiomas, metastases, and high-grade glial tumors. Specifically, for the Mask R-CNN Resnet 101 architecture, precision, recall, DICE, and Jaccard index values were recorded as 96%, 93%, 91%, and 84%, respectively. Conversely, for the Mask R-CNN Resnet 50 architecture, these values stood at 94%, 89%, 89%, and 82%. Additionally, the model achieved an impressive DICE score range of 94%-95% and an accuracy of 98% in pathology estimation. CONCLUSIONS: As illustrated in our study, the confluence of deep learning with neurosurgical procedures marks a transformative phase in medical science. The results are promising but underscore diverse data sets' significance for training and refining these deep learning models.


Assuntos
Neoplasias Encefálicas , Aprendizado Profundo , Neoplasias Meníngeas , Humanos , Imageamento por Ressonância Magnética , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/cirurgia , Espectroscopia de Ressonância Magnética , Processamento de Imagem Assistida por Computador
4.
World Neurosurg ; 179: e530-e538, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37689362

RESUMO

OBJECTIVE: Radiation necrosis (RN) is a long-term side effect of Gamma Knife stereotactic radiosurgery that may require surgical intervention. Pentoxifylline and vitamin E have previously been shown to be effective in the treatment of RN in the published literature, but there are no data on the prophylactic use of these molecules or, more importantly, whether prophylaxis is required. METHODS: The iatrogenic RN model included 50 Sprague-Dawley rats of both sexes. There were 7 treatment subgroups established. Gamma-Plan 8.32 was used to plan after magnetic resonance scans were performed in a specially designed frame. The injection doses used in the treatment groups were vitamin E (30 mg/kg/day in a single dose) and pentoxifylline (50 mg/kg/day in 2 doses). Control magnetic resonance scans were performed at the end of a 16-week treatment, and the subjects were decapitated for pathological evaluations. RESULTS: The intensity of hypoxia - inducible factor 1α immunoreactivity is statistically significantly lower in the therapeutic vitamin E, prophylactic pentoxifylline and vitamin E, and therapeutic pentoxifylline and vitamin E groups than in the other groups. Similarly, the intensity of vascular endothelial growth factor immunoreactivity was reduced in the therapeutic vitamin E and prophylactic pentoxifylline and vitamin E treatment modality groups. When compared with other groups, the therapeutic pentoxifylline group had significantly fewer vascular endothelial growth factor-immunoreactive cells in the perinecrotic area, with an accompanying decreased contrast enhancement pattern. CONCLUSIONS: Both vitamin E and pentoxifylline are effective for the treatment and/or restriction of RN, either alone or in combination. The use of these molecules as a preventive measure did not outperform the therapeutic treatment.


Assuntos
Pentoxifilina , Lesões por Radiação , Humanos , Ratos , Masculino , Feminino , Animais , Vitamina E/farmacologia , Vitamina E/uso terapêutico , Pentoxifilina/farmacologia , Pentoxifilina/uso terapêutico , Fator A de Crescimento do Endotélio Vascular , Ratos Sprague-Dawley , Lesões por Radiação/prevenção & controle , Modelos Animais , Necrose/prevenção & controle , Necrose/tratamento farmacológico
5.
J Neurosurg Case Lessons ; 6(5)2023 Jul 31.
Artigo em Inglês | MEDLINE | ID: mdl-37548554

RESUMO

BACKGROUND: This is a case of aggressive Langerhans cell histiocytosis (LCH) with an atypical intracranial location. OBSERVATIONS: In this report, the authors present the diagnosis and treatment of a 12-year-old male patient diagnosed with LCH. The patient was admitted to the emergency department with left-sided facial palsy, and a solid lesion with mass effect in the pons was found. A biopsy was performed via suboccipital craniotomy, and the diagnosis was LCH. A chemotherapy regimen was started since the LCH sample was the resistant type. The patient showed improvement in his neurological deficit following treatment. LESSONS: This rare localized and aggressive case's diagnosis process and treatment choices may apply to future cases.

6.
Horm Res Paediatr ; 96(5): 527-537, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36630941

RESUMO

INTRODUCTION: Thyrotropin-producing pituitary adenoma (TSHoma) is a very rare disease, representing less than 1% of the pituitary tumours and presenting with elevated thyroid hormones and normal/high TSH concentrations. CASE PRESENTATION: A 7-year-old boy with nervousness was referred by his psychiatrist for elevated free T4, T3, and TSH levels. Initial evaluation revealed an elevated α-subunit. Pituitary magnetic resonance imaging (MRI) demonstrated a macroadenoma. The patient underwent a trans-sphenoidal tumour resection (TSS) which showed positive immunohistochemical staining for TSH, growth hormone, and prolactin in tumoral tissue. Euthyroidism was achieved for 1 year after TSS, then recurrence of tumour with elevated TSH and thyroid hormone levels necessitated a re-operation with TSS followed by gamma-knife radiosurgery. The euthyroid state was achieved and lasted for 2.5 years this time, but due to the recurrence, medical treatment had been commenced with cabergoline and octreotide. Euthyroidism was maintained for the last 4 years on monthly octreotide treatment. A repeat MRI demonstrated no pituitary mass, but a mass in the sphenoidal sinus had been detected. Removal of this mass by surgery did not achieve euthyroidism. 68Ga-DOTA-TATE positron emission tomography/computed tomography showed residual tissue extending from the pituitary region to the sphenoid sinus. The patient's bone age was advanced by 2 years at diagnosis which became 4 years in 1 year after the diagnosis and remained so throughout follow-up, leading to a final height of -3.3 SDS below his target height at the age of 16 years. CONCLUSION: The diagnosis, treatment, and follow-up of TSHomas are challenging, and short stature due to accelerated bone maturation is a complication of paediatric TSHomas.


Assuntos
Adenoma , Hipertireoidismo , Neoplasias Hipofisárias , Masculino , Humanos , Criança , Pré-Escolar , Adolescente , Neoplasias Hipofisárias/diagnóstico por imagem , Neoplasias Hipofisárias/terapia , Octreotida , Tireotropina , Adenoma/cirurgia , Adenoma/diagnóstico , Hipófise
7.
J Craniovertebr Junction Spine ; 14(4): 341-345, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38268685

RESUMO

Objective: In neurosurgery, posterior approaches intended at the craniovertebral junction are frequently used. The most popular procedures for treating upper cervical instability are C1 lateral mass, C2 pedicle, and C1-C2 transarticular screw stabilization. Due to their proximity to neural structures and the presence of the high-riding vertebral artery (VA), these techniques are complicated. The risk of VA damage can be decreased by mobilizing the VA. Using cadaveric specimens in this study was aimed to demonstrate C2 pedicle and C1-C2 transarticular screw placement with VA mobilization and a novel C2 inferior corpus screw placement technique. Methods: In this study, twelve adult cadaveric specimens and two adult dry cadaveric C2 bones were used with the permission and decision of the University Research Ethics Committee. Colored silicone was injected into the arteries and veins of these twelve cadaveric specimens. Then, muscle dissection was performed stepwise, and the C2 vertebrae of the cadavers were revealed with a surgical microscope. Each specimen and entire stages of the dissections were recorded photographically. After cadaver dissections, screw placement was performed with three different techniques. Finally, radiological imaging was done with fluoroscopy. Results: After dissection, the lateral mass of the C2 vertebra was observed, and lateral to it, the transverse process and foramen were detected with the help of a hook. Next, the posterior wall of the VA groove was removed using a 1 mm thin plate Kerrison rongeur until the VA loop could partially be observed the VA. This enables us to find the top of the loop of the VA and mobilize it inferiorly using a dissector. Following this step, the C1-2 transarticular, C2 pedicle, and the novel C2 inferior corpus screw placement can be performed safely by directly visualizing the artery. Conclusions: Due to the nearby neurologic and vascular structures, placing the C2 pedicle and C1-2 transarticular screw is a challenging procedure, especially in high-riding VA cases. However, it is possible to place the C2 pedicle, C1-2 transarticular, and novel C2 inferior corpus screw after the mobilization of the VA. This study aimed to show all of them together on a cadaver for the first time, to understand the anatomy of the C2 vertebra, and to use screw placement techniques to minimize the risk of complications.

8.
J Neurosurg Pediatr ; 29(6): 650-658, 2022 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-35276659

RESUMO

OBJECTIVE: The objective of this study was to propose a new skull outline-based method to objectively quantify complex 3D skull shapes and frontal and supraorbital retrusion in metopic craniosynostosis using 3D photogrammetry. METHODS: A standard section from 3D photogrammetry, which represents the trigonocephalic shape, was used in this study. From the midpoint of the area of this section, half diagonals were calculated to the skull outline at 5° increments in the anterior half of the head. These half diagonals were used to create a sinusoidal curve, and the area under the sinusoidal curve (AUC) was used to represent the mathematical expression of the trigonocephalic head shape. The AUC from 0° to 180° (90° from the midline to each side) was calculated and is referred to as AUC0→180. The AUC from 60° to 120° (30° from the midline to each side) was also calculated and is referred to as AUC60→120. A total of 24 patients who underwent endoscopic strip craniectomy and 13 age- and sex-matched controls were included in the study. The AUC values obtained in patients at different time points and controls were analyzed. RESULTS: The mean preoperative AUC60→120 and AUC0→180 in the patients were significantly lower than those in control individuals. The increase in both AUC60→120 and AUC0→180 values is statistically significant at the discontinuation of helmet therapy and at final follow-up. Receiver operating characteristic curve analysis indicated that AUC60→120 is a more accurate classifier than AUC0→180. CONCLUSIONS: The proposed method objectively quantifies complex head shape and frontal retrusion in patients with metopic craniosynostosis and provides a quantitative measure for follow-up after surgical treatment. It avoids ionizing radiation exposure.


Assuntos
Craniossinostoses , Crânio , Humanos , Lactente , Projetos Piloto , Estudos Retrospectivos , Crânio/diagnóstico por imagem , Crânio/cirurgia , Craniossinostoses/diagnóstico por imagem , Craniossinostoses/cirurgia , Craniotomia/métodos , Avaliação de Resultados em Cuidados de Saúde
9.
Childs Nerv Syst ; 38(6): 1173-1180, 2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-35022854

RESUMO

PURPOSE: This study describes a modified technique addressing bony defects and incomplete ossification after endoscopic strip craniectomy (ESC) for SC followed by postoperative helmet therapy (PHT). The study aims to delineate quantitative and qualitative outcomes of this modified ESC technique followed by PHT and discern the optimal duration of PHT following ESC. A secondary aim is to address the effects of the technique on bony defects. METHODS: Patients undergoing ESC followed by PHT between 2017 and 2021 were included. Patient sex, age at surgery, duration of surgery, red blood cell transfusion, length of hospital stay, PHT duration, cephalic index (CI) at multiple time points, and bony defect information were collected. Descriptive and correlative analysis was done. RESULTS: Thirty-one patients (25 male, 6 female) were operated in study period. Mean age at surgery was 12.81 weeks, mean duration of surgery was 57.50 min, average transfused RBC volume was 32 cc, mean length of hospital stay was 1.84 days, mean PHT duration was 33.16 weeks, and mean follow-up time was 63.42 weeks. Mean preoperative CI was 70.6, and mean CI at the end of PHT was significantly higher, being 77.1. Maximum improvement in CI (CImax) took place at week 22.97. PHT duration did not have a correlation with CI at last follow up. There were no bony defects. CONCLUSION: Modified ESC technique is effective in successful correction of sagittal craniosynostosis. CImax already takes place, while PHT is continuing, but there is no certain time point for dishelmeting. The technique avoided bony defects and incomplete ossification.


Assuntos
Craniossinostoses , Craniossinostoses/diagnóstico por imagem , Craniossinostoses/cirurgia , Craniotomia/métodos , Endoscopia/métodos , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos , Resultado do Tratamento
10.
Fetal Pediatr Pathol ; 41(4): 665-669, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-33872133

RESUMO

BackgroundIn recent years, with the widespread use of assisted reproductive technologies, questions have arisen regarding the possible relationship between these infertile parents with assisted conception procedures and childhood cancers. Case report: We present a 23-day-old newborn conceived by in vitro fertilization (IVF) with a 53 × 46 × 38 mm intracranial mass detected by magnetic resonance imaging on the 15th postnatal day. The mass, removed on 23rd postnatal day, was an Atypical Teratoid Rhabdoid Tumor (ATRT), WHO grade 4. Conclusions: As far as we know, this is the only neonatally detected ATRT. Further studies are needed to investigate whether there is a causal relationship between IVF and childhood cancers.


Assuntos
Tumor Rabdoide , Teratoma , Criança , Fertilização in vitro/efeitos adversos , Humanos , Recém-Nascido , Tumor Rabdoide/complicações , Tumor Rabdoide/patologia , Fatores de Risco , Teratoma/complicações , Teratoma/patologia
11.
Turk Neurosurg ; 32(1): 166-170, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34664706

RESUMO

Intermediate-grade meningeal melanocytoma (IGM) is a rare tumor that has not been reported in children so far. It is speculated to have more aggressive clinical behavior with undefined best management options. In this study, we present a 19-month-old girl as the first case with IGM in English literature. Preoperative diagnosis was ambiguous, given the unclear patient history and radiological features resembling a growing skull fracture or a congenital parietal bone agenesis subtype. During surgery, a dark gray-black dural area (5 × 7 cm in size) was found and then excised. However, the surgery was complicated due to brain edema and swelling, warranting a second surgery for reconstruction and dural repair. Of the 16 reported adult patients, 14 showed a high recurrence rate without adjuvant radiotherapy; 2 showed no recurrence with adjuvant radiotherapy. No adjuvant radiotherapy was given to our patient since she was 19 months old at the time of diagnosis and showed no recurrence at 48-month follow-up until now. Close monitoring with radiological imaging is of paramount importance for such cases.


Assuntos
Neoplasias Meníngeas , Adulto , Criança , Diagnóstico Diferencial , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Neoplasias Meníngeas/diagnóstico por imagem , Neoplasias Meníngeas/cirurgia , Radiografia , Radioterapia Adjuvante
12.
Childs Nerv Syst ; 38(1): 95-102, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34568960

RESUMO

BACKGROUND: Diagnosis and treatment of pseudotumor cerebri syndrome in children is still a challenge for clinicians. The aim of this study is to reveal the influence of presentation age and CSF opening pressure on long-term prognosis of pseudotumor cerebri and share our clinical data of the very young age (≤ 5-year) group. METHOD: This retrospective study includes the patients followed by the Marmara University Pediatric Neurology Clinic between years 2012 and 2020 diagnosed with definite, probable, or suggestive pseudotumor cerebri syndrome according to modified Friedman criteria. Patients were classified into three groups according to presentation age: group 1: ≤ 5 years old; group 2: 6-10 years; and group 3 > 10 years old. CSF opening pressure was also categorized into three groups as CSF < 20 cmH20; CSF 20-30 cmH20; and CSF > 30 cmH20. RESULTS: One hundred three patients, 62.1% female (n = 64), were enrolled in the study. Group 1 consisted of 16 patients (60% male), group 2 consisted of 30 patients (63.3% female), and group 3 consisted of 57 patients (66.7% female). The mean CSF opening pressure did not differ between the three age groups in our study (p > 0.05). Treatment response was not correlated with CSF opening pressure. Papilledema presence and level of CSF opening pressure were independent of age (p > 0.05). CONCLUSIONS: Age at presentation and CSF opening pressure at diagnosis are not any predictive factors that influence long-term prognosis of pseudotumor cerebri syndrome in children. Evaluation and follow-up of children should be done in personalized approach.


Assuntos
Papiledema , Pseudotumor Cerebral , Pressão do Líquido Cefalorraquidiano/fisiologia , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Papiledema/diagnóstico , Prognóstico , Pseudotumor Cerebral/tratamento farmacológico , Pseudotumor Cerebral/terapia , Estudos Retrospectivos
13.
J Clin Endocrinol Metab ; 106(7): e2557-e2566, 2021 06 16.
Artigo em Inglês | MEDLINE | ID: mdl-33765130

RESUMO

CONTEXT: Central precocious puberty (CPP) may arise from central nervous system (CNS) lesions in a few affected girls. Recently, the incidence of girls with CPP has increased mostly in 6-8 year olds, in whom the necessity of magnetic resonance imaging (MRI) is debated. OBJECTIVE: To investigate the frequency, long-term outcome and potential predictors of CNS lesions in a large cohort of girls with CPP. METHODS: A multicenter cohort of 770 Turkish girls with CPP who had systematic cranial MRI between 2005 and 2017. Age at puberty onset was <6 years in 116 and 6-8 years in 654. CNS lesions were followed until final decision(6.2 ± 3.1 years). Potential predictors of CNS lesions were evaluated by univariate analyses. RESULTS: A total of 104/770 (13.5%) girls had abnormal brain MRI. Of these, 2.8% were previously known CNS lesions, 3.8% had newly detected and causally related CNS lesions, 3.1 % were possibly, related and 3.8% were incidental. Only 2 (0.25%) neoplastic lesions (1 low grade glioma and 1 meningioma) were identified; neither required intervention over follow-up of 6 and 3.5 years respectively. Age at breast development <6 years (odds ratio [OR] 2.38; 95% CI 1.08-5.21) and the peak luteinizing hormone/follicle-stimulating hormone (LH/FSH) ratio >0.6 (OR 3.13; 95% CI 1.02-9.68) were significantly associated with CNS lesions. However, both patients with neoplastic lesions were >6 years old. CONCLUSION: Although age and LH/FSH ratio are significant predictors of CNS lesions, their predictive power is weak. Thus, systematic MRI seems to be the most efficient current approach to avoid missing an occult CNS lesion in girls with CPP, despite the low likelihood of finding a lesion requiring intervention.


Assuntos
Encéfalo/diagnóstico por imagem , Neoplasias do Sistema Nervoso Central/diagnóstico por imagem , Imageamento por Ressonância Magnética , Puberdade Precoce/diagnóstico por imagem , Assistência ao Convalescente , Neoplasias do Sistema Nervoso Central/complicações , Criança , Pré-Escolar , Feminino , Humanos , Valor Preditivo dos Testes , Puberdade Precoce/etiologia
14.
Pediatr Neurosurg ; 56(2): 152-156, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33691329

RESUMO

INTRODUCTION: Although penetrating cranial injuries are rare in pediatric patients, these injuries can lead to morbidity and mortality. Removal of a gigantic foreign body from the cranium requires proper management as it has high risk of further brain damage and seizures. CASE PRESENTATION: We report the case of a patient with cranial injury caused by hitting the head to the hook of a school desk. Due to the extreme nature of the injury, the following additional steps were necessary: taking help from a local firefighter team to cut the desk, surgical removal of the foreign body, and cranioplasty after 6 months. Following this, he was discharged without neurological deficits. DISCUSSION/CONCLUSION: Neurotrauma is one of the major causes of death in children. The damage and effect of the injuring foreign body depends on its size, shape, velocity, trajectory, and entry point. It should be kept in mind that any high-frequency processes applied on the extracranial parts of conductive objects, such as metal bars, may trigger seizures. Preoperative extracranial intervention for huge penetrating foreign bodies should be performed under anticonvulsant administration and intubation to decrease the risk of epileptic seizures and its complications.


Assuntos
Lesões Encefálicas , Corpos Estranhos , Traumatismos Cranianos Penetrantes , Criança , Corpos Estranhos/diagnóstico por imagem , Corpos Estranhos/cirurgia , Traumatismos Cranianos Penetrantes/diagnóstico por imagem , Traumatismos Cranianos Penetrantes/cirurgia , Humanos , Masculino , Cuidados Pré-Operatórios , Instituições Acadêmicas
15.
Calcif Tissue Int ; 107(1): 96-103, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32337609

RESUMO

Raine Syndrome (RS) is caused by biallelic loss-of-function mutations in FAM20C gene and characterized by hypophosphatemia, typical facial and skeletal features. Subperiosteal bone formation and generalized osteosclerosis are the most common radiological findings. Here we present a new case with RS. A 9-month-old male patient on a home-type ventilator was referred for hypophosphatemia. He was born with a weight of 3800 g to non-consanguineous parents. Prenatal ultrasound had demonstrated nasal bone agenesis. A large anterior fontanel, frontal bossing, exophthalmos, hypoplastic nose, high arched palate, low set ears, triangular mouth, and corneal opacification were detected on physical examination. Serial skeletal X-rays revealed diffuse osteosclerosis at birth which was gradually decreased by the age of 5 months with subperiosteal undermineralized bone formation and medullary space of long bone could be distinguishable with bone-within-a-bone appearance. At 9 months of age, hand X-ray revealed cupping of the ulna with loose radial bone margin with minimal fraying and osteopenia. Cranial computed tomography scan showed bilateral periventricular calcification and hydrocephalus in progress. The clinical, laboratory, and radiological examinations were consistent with RS. Molecular analyses revealed a compound heterozygous mutation in FAM20C gene (a known pathogenic mutation, c.1645C > T, p.Arg549Trp; and a novel c.863 + 5 G > C variant). The patient died due to respiratory failure at 17 months of age. This case allowed us to demonstrate natural progression of skeletal features in RS. Furthermore, we have described a novel FAM20C variant causing RS. Previous literature on RS is also reviewed.


Assuntos
Fissura Palatina/complicações , Exoftalmia/complicações , Hipofosfatemia/etiologia , Microcefalia/complicações , Osteosclerose/complicações , Anormalidades Múltiplas , Caseína Quinase I/genética , Proteínas da Matriz Extracelular/genética , Humanos , Lactente , Masculino
16.
World Neurosurg ; 138: 35-38, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32113993

RESUMO

BACKGROUND: Mural-type vein of Galen malformations (VoGMs) mostly manifest in later stages of infancy as macrocephaly, hydrocephalus, or failure to thrive unless previously diagnosed and treated. Literature is extremely limited on the success and safety of endoscopic third ventriculostomy (ETV) in acute obstructive hydrocephalus caused by an untreated VoGM. Thus, we aimed to present a case for demonstrating the possible efficacy and safety of ETV under such conditions. CASE DESCRIPTION: A 22-month-old boy presenting with acute-onset headache, vomiting, and lethargy was diagnosed with a mural-type VoGM and acute obstructive hydrocephalus. He was treated satisfactorily with ETV and endovascular embolization. We observed a shrinkage in malformation sac diameter of >20 mm in the magnetic resonance imaging angiography at postoperative year 1. The child showed normal motor and mental development at his outpatient clinic visit at postoperative month 15. CONCLUSIONS: To the best of our knowledge, this is the first case in the literature with an untreated VoGM presenting with acute obstructive hydrocephalus who was treated with the combination of ETV and endovascular embolization and had an adequate follow-up period.


Assuntos
Hidrocefalia/terapia , Neuroendoscopia/métodos , Malformações da Veia de Galeno/terapia , Ventriculostomia/métodos , Embolização Terapêutica/métodos , Humanos , Hidrocefalia/etiologia , Lactente , Masculino , Malformações da Veia de Galeno/etiologia
17.
J Mot Behav ; 52(6): 676-686, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31630669

RESUMO

Objective: To assess static and dynamic postural stability changes in children with high sacral level spina bifida.Methods: Thirty-five children with high sacral level spina bifida and 35 age-matched healthy controls were enrolled. Their lower extremity muscle strengths and static and dynamic postural stability parameters were measured with the use of a dynamometer and the NeuroCom Balance Master® device, respectively. Functional gait and balance were evaluated using the five times sit-to-stand test (5STS) and the 6-minute walk test (6MWT). Spinal, hip, and ankle deformities of the patient group were measured by radiologic evaluation.Results: In comparison with controls, patients were found to have lower ankle dorsiflexion and plantar-flexion strength, increased 5STS duration, and decreased 6MWT distance while both static and dynamic postural stability parameters were significantly different. Bilateral ankle muscle strengths were found to be negatively correlated with postural stability parameters. The presence of hydrocephalus or meningomyelocele in the patient group was found to have negative effects on static postural stability.Conclusion: Static and dynamic postural stability is affected even in children with high sacral level spina bifida who are expected to have best condition in this patient population. The ankle muscle strength is the main factor influencing these changes.


Assuntos
Extremidade Inferior/fisiopatologia , Força Muscular/fisiologia , Músculo Esquelético/fisiopatologia , Equilíbrio Postural/fisiologia , Disrafismo Espinal/fisiopatologia , Adolescente , Criança , Pré-Escolar , Feminino , Marcha/fisiologia , Humanos , Masculino
18.
J Neurosurg ; 132(6): 1764-1772, 2019 May 10.
Artigo em Inglês | MEDLINE | ID: mdl-31075772

RESUMO

OBJECTIVE: The authors sought to develop a set of parameters that reliably predict the clinical success of endoscopic third ventriculostomy (ETV) when assessed before and after the operation, and to establish a plan for MRI follow-up after this procedure. METHODS: This retrospective study involved 77 patients who had undergone 78 ETV procedures for obstructive hydrocephalus between 2010 and 2015. Constructive interference in steady-state (CISS) MRI evaluations before and after ETV were reviewed, and 4 parameters were measured. Two well-known standard parameters, fronto-occipital horn ratio (FOHR) and third ventricular index (TVI), and 2 newly defined parameters, infundibulochiasmatic (IC) angle and anterior third ventricular height (TVH), were measured in this study. Associations between preoperative measurements of and postoperative changes in the 4 variables and the clinical success of ETV were analyzed. RESULTS: Of the 78 ETV procedures, 70 (89.7%) were successful and 8 (10.3%) failed. On the preoperative MR images, the mean IC angle and anterior TVH were significantly larger in the successful procedures. On the 24-hour postoperative MR images of the successful procedures, the mean IC angle declined significantly from 114.2° to 94.6° (p < 0.05) and the mean anterior TVH declined significantly from 15 to 11.2 mm (p < 0.05). The mean percentage reduction of the IC angle was 17.1%, and that of the anterior TVH was 25.5% (both p < 0.05). On the 1-month MR images of the successful procedures, the mean IC angle declined significantly from 94.6° to 84.2° (p < 0.05) and the mean anterior TVH declined significantly from 11.2 to 9.3 mm (p < 0.05). The mean percentage reductions in IC angle (11%) and anterior TVH (16.9%) remained significant at this time point but were smaller than those observed at 24 hours. The 6-month and 1-year postoperative MR images of the successful group showed no significant changes in mean IC angle or mean anterior TVH. Regarding the unsuccessful procedures, there were no significant changes observed in IC angle or anterior TVH at any of the time points studied. Reduction of IC angle and reduction of anterior TVH on 24-hour postoperative MR images were significantly associated with successful ETV. However, no clinically significant association was found between FOHR, TVI, and ETV success. CONCLUSIONS: Assessing the IC angle and anterior TVH on preoperative and 24-hour postoperative MR images is useful for predicting the clinical success of ETV. These 2 measurements could also be valuable as radiological follow-up parameters.

19.
Pediatr Neurosurg ; 53(4): 247-253, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29719303

RESUMO

INTRODUCTION: Intracranial aneurysms are very rare in children. Although subarachnoidal hemorrhage (SAH) is by far the most common presentation of aneurysms in the majority of the pediatric case series, it is not rare for an unruptured aneurysm to present with a mass effect. Acute hydrocephalus is a common finding following aneurysmal SAH. However, this malady may develop even in the absence of SAH but secondary to direct obstruction by a giant aneurysm. This situation is extremely rare in children, with only a few known case reports in the literature. CASE REPORT: We report the case of a 10-year-old girl who presented with signs and symptoms of acute hydrocephalus; further radiological evaluation revealed obstructive hydrocephalus and a giant posterior cerebral artery aneurysm. Following endovascular treatment of the aneurysm, hydrocephalus was completely resolved, and the patient was symptom free. CONCLUSION: Although they are very rare, giant intracranial aneurysms must be kept in mind during the differential diagnosis of pediatric acute hydrocephalus cases. Hydrocephalus may resolve spontaneously after the successful treatment of these aneurysms.


Assuntos
Artérias Cerebrais , Hidrocefalia/etiologia , Aneurisma Intracraniano/diagnóstico , Aneurisma Intracraniano/cirurgia , Criança , Diagnóstico Diferencial , Embolização Terapêutica/métodos , Procedimentos Endovasculares/métodos , Feminino , Humanos
20.
Br J Neurosurg ; 32(2): 196-200, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29706112

RESUMO

PURPOSE: Ventriculoperitoneal shunt (VPS) is the most common treatment modality for hydrocephalus. However, VPS infection is a common and serious complication with high rates of mortality and morbidity. The objective of this study was to investigate causative agents and the management of VPS infections and to identify risk factors for re-infection in children. MATERIALS AND METHODS: Retrospective, multicentre study on patients with VPS infection at paediatric and neurosurgery departments in four tertiary medical centres in Turkey between January 2011 and September 2014. RESULTS: A total of 290 patients with VPS infections were identified during the study period. The aetiology of hydrocephalus was congenital malformations in 190 patients (65.5%). The most common symptom of shunt infection was fever in 108 (37.2%) cases. At least one pathogen was identified in 148 VPS infections (51%). The most commonly isolated pathogen was coagulase-negative staphylococci, which grew in 63 cases (42.5%), followed by Pseudomonas aeruginosa in 22 cases (14.9%), Klebsiella pneumoniae in 15 cases (10.1%), and Staphylococcus aureus in 15 cases (10.1). The median duration of VPS infection was 2 months (range, 15 days to 60 months) after insertion of the shunt, with half (49.8%) occurring during the first month. VPS infection was treated by antibiotics and shunt removal in 211 cases (76.4%) and antibiotics alone without shunt removal in 65 patients (23.5%). Among the risk factors, CSF protein level greater than 100 mg/dL prior to VPS insertion was associated with a potential risk of re-infection (OR, 1.65; p =.01). CONCLUSION: High protein levels (>100 mg/dL) before the re-insertion of a VPS may be a risk factor for VPS re-infection.


Assuntos
Infecções Bacterianas/epidemiologia , Complicações Pós-Operatórias/epidemiologia , Derivação Ventriculoperitoneal/efeitos adversos , Adolescente , Antibacterianos/uso terapêutico , Infecções Bacterianas/tratamento farmacológico , Infecções Bacterianas/microbiologia , Proteínas do Líquido Cefalorraquidiano/análise , Criança , Pré-Escolar , Remoção de Dispositivo , Feminino , Humanos , Hidrocefalia/cirurgia , Lactente , Masculino , Complicações Pós-Operatórias/tratamento farmacológico , Complicações Pós-Operatórias/microbiologia , Recidiva , Estudos Retrospectivos , Fatores de Risco , Turquia/epidemiologia
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