Mirko Scagnet - Academia.edu (original) (raw)
Papers by Mirko Scagnet
Operative neurosurgery, Jul 2, 2024
Neuro-oncology, Jun 18, 2024
Neuro-oncology, Jun 18, 2024
Neuro-oncology, Jun 18, 2024
Frontiers in endocrinology, Apr 11, 2024
Journal of Cranio-maxillofacial Surgery, Dec 1, 2018
S kull base lesions comprise a range of pathologies of neural, mesenchymal, notochordal, vascular... more S kull base lesions comprise a range of pathologies of neural, mesenchymal, notochordal, vascular, and, sometimes, epithelial origin. Such lesions are relatively rare in children and are mostly benign. 40 However, benign tumors can grow to exert mass effect and cause significant morbidity. 4 In many of these cases, excision is mandatory for their management. Additionally, skull base trauma may result in rhinorrhea requiring surgical repair. Pathology and trauma to the anterior cranial base have historically been approached via craniofacial resections. Although variations on this technique exist, most invariably involve a craniotomy, a transfacial approach, or a combined craniofacial approach. 26,41,60,61 Deep lesions may require brain retraction, heightening the risk of frontal lobe edema, infection, pneumocephalus, and other complications. 24,26 These approaches in children pose at Endoscopic endonasal skull base surgery in the pediatric population Clinical article
International Journal of Surgical Pathology, Jun 18, 2021
Although radiotherapy and chemotherapy followed by surgery is the most accepted treatment strateg... more Although radiotherapy and chemotherapy followed by surgery is the most accepted treatment strategy, the prognosis is still poor.
Journal of Neurosurgery: Pediatrics
OBJECTIVE Endoscopic mini-invasive treatment for sporadic trigonocephaly is becoming a widely acc... more OBJECTIVE Endoscopic mini-invasive treatment for sporadic trigonocephaly is becoming a widely accepted surgical treatment. In most centers this treatment is performed in association with postoperative helmeting. The aim of the present study was to review and report the authors’ 11-year experience of endoscope-assisted metopic suturectomy for treatment of 62 trigonocephaly patients without helmet use. METHODS For this retrospective study, clinical data of 62 consecutive pediatric patients (age 3–8 months) were obtained from the data bank of the “Anna Meyer” Children Hospital. These patients had been diagnosed with trigonocephaly (type II and III) and undergone surgery performed with a mini-invasive endoscopic technique during the period from January 2011 to January 2022. No helmet was used postoperatively in these patients, and they were evaluated through craniometric measurements, pre-/postoperative photographs, and parents’ impressions, as well as thorough clinical examinations dur...
Journal of neurosurgery, Mar 1, 2023
OBJECTIVE Endoscopic mini-invasive treatment for sporadic trigonocephaly is becoming a widely acc... more OBJECTIVE Endoscopic mini-invasive treatment for sporadic trigonocephaly is becoming a widely accepted surgical treatment. In most centers this treatment is performed in association with postoperative helmeting. The aim of the present study was to review and report the authors’ 11-year experience of endoscope-assisted metopic suturectomy for treatment of 62 trigonocephaly patients without helmet use. METHODS For this retrospective study, clinical data of 62 consecutive pediatric patients (age 3–8 months) were obtained from the data bank of the “Anna Meyer” Children Hospital. These patients had been diagnosed with trigonocephaly (type II and III) and undergone surgery performed with a mini-invasive endoscopic technique during the period from January 2011 to January 2022. No helmet was used postoperatively in these patients, and they were evaluated through craniometric measurements, pre-/postoperative photographs, and parents’ impressions, as well as thorough clinical examinations during follow-up appointments. RESULTS The mean patient follow-up period was 6 ± 1.3 years. The female/male ratio was 1:2; 52% of the patients presented with type II trigonocephaly and the remaining patients with type III. The mean age at surgery was 153 ± 44 days (5 ± 1.5 months, range 3–8 months). In 92% of the patients the surgical outcome was defined as good to excellent. However, 4 patients presented with an unsatisfactory outcome, including 1 patient with a CSF collection requiring surgical repair 2 months after the first surgery and 1 patient who developed infection of the surgical wound and needed a second surgery. In the latter patient the outcome was evaluated as satisfactory, and no sequelae regarding the infection were encountered during follow-up. CONCLUSIONS According to the authors’ experience, endoscopic metopic suturectomy alone, without the use of a helmet, is a valid surgical option for trigonocephaly treatment, and its application can be considered in patients of older age groups (up to 8 months). Thus, in the right patient selection context, this technique represents the treatment of choice.
Pediatric Neurosurgery
Introduction: Cavernous malformations of the ventral brainstem are a challenging disease to treat... more Introduction: Cavernous malformations of the ventral brainstem are a challenging disease to treat. From an anatomical perspective, the best surgical options are endoscopic endonasal approaches. The first reports of their usage for this purpose date back to 2012. In this study, we gathered data on the subject, share our experience, and outline technical notes and tips for this surgery. Case Presentation: We report a 14-year-old female with a ventral pons cavernoma, treated using an endoscopic endonasal transclival approach and followed-up for 5.9 years. This is the longest reported follow-up for this condition to date. Written informed consent was obtained from the patient for publication of this case report and the accompanying images. Discussion: An endoscopic endonasal transclival approach was used. The skull base was reconstructed using the multilayer grafting technique and a nasoseptal flap. There was no postoperative cerebrospinal fluid leakage. In a literature review, we ident...
Medico e Bambino
Microcephaly is a medical condition involving a smaller-than-normal head. Microcephaly may presen... more Microcephaly is a medical condition involving a smaller-than-normal head. Microcephaly may present at birth or it may develop in the first few years of life. Patients with this disorder often have an intellectual disability, poor motor function, poor speech, abnormal facial features and seizures. Microcephaly does not have to suggest exclusively a craniosynostosis. Over the last decade, cranial suture ultrasound has played an increasingly important role in diagnosing craniosynostosis; ultrasound allows a differential diagnosis between craniosynostosis and a positional malformation to be made. A cranial suture is considered normal if a hypoechoic space has been identified between two hyperechoic bony plates. The anterior fontanelle is the largest fontanelle and is placed at the junction of the sagittal suture, coronal suture and frontal suture. The fontanelle allows the skull to deform during birth to ease its passage through the birth canal and for expansion of the brain after birth...
Cancers
Medulloblastoma is the most common malignant brain tumor in children. Even if current treatment d... more Medulloblastoma is the most common malignant brain tumor in children. Even if current treatment dramatically improves the prognosis, survivors often develop long-term treatment-related sequelae. The current radiotherapy standard for medulloblastoma is craniospinal irradiation with a boost to the primary tumor site and to any metastatic sites. Proton therapy (PT) has similar efficacy compared to traditional photon-based radiotherapy but might achieve lower toxicity rates. We report on our multi-centric experience with 43 children with medulloblastoma (median age at diagnosis 8.7 years, IQR 6.6, M/F 23/20; 26 high-risk, 14 standard-risk, 3 ex-infant), who received active scanning PT between 2015 and 2021, with a focus on PT-related acute-subacute toxicity, as well as some preliminary data on late toxicity. Most acute toxicities were mild and manageable with supportive therapy. Hematological toxicity was limited, even among HR patients who underwent hematopoietic stem-cell transplantat...
Genes, 2022
Pediatric high-grade gliomas (pHGGs) encompass a heterogeneous group of tumors. Three main molecu... more Pediatric high-grade gliomas (pHGGs) encompass a heterogeneous group of tumors. Three main molecular types (H3.3 mutant, IDH mutant, and H3.3/IDH wild-type) and a number of subtypes have been identified. We provide an overview of pHGGs and present a mono-institutional series. We studied eleven non-related pHGG samples through a combined approach of routine diagnostic tools and a gene panel. TP53 and H3F3A were the most mutated genes (six patients each, 54%). The third most mutated gene was EGFR (three patients, 27%), followed by PDGFRA and PTEN (two patients each, 18%). Variants in the EZHIP, MSH2, IDH1, IDH2, TERT, HRAS, NF1, BRAF, ATRX, and PIK3CA genes were relatively infrequent (one patient each, 9%). In one case, gene panel analysis documented the presence of a pathogenic IDH2 variant (c.419G>A, p.Arg140Gln) never described in gliomas. More than one-third of patients carry a variant in a gene associated with tumor-predisposing syndromes. The absence of constitutional DNA did...
Human Genetics, 2020
Type 1 Chiari malformation (C1M) is characterized by cerebellar tonsillar herniation of 3–5 mm or... more Type 1 Chiari malformation (C1M) is characterized by cerebellar tonsillar herniation of 3–5 mm or more, the frequency of which is presumably much higher than one in 1000 births, as previously believed. Its etiology remains undefined, although a genetic basis is strongly supported by C1M presence in numerous genetic syndromes associated with different genes. Whole-exome sequencing (WES) in 51 between isolated and syndromic pediatric cases and their relatives was performed after confirmation of the defect by brain magnetic resonance image (MRI). Moreover, in all the cases showing an inherited candidate variant, brain MRI was performed in both parents and not only in the carrier one to investigate whether the defect segregated with the variant. More than half of the variants were Missense and belonged to the same chromatin-remodeling genes whose protein truncation variants are associated with severe neurodevelopmental syndromes. In the remaining cases, variants have been detected in ge...
![Research paper thumbnail of Corrigendum to ‘Angiocentric glioma-associated seizures: The possible role of EATT2, pyruvate carboxylase and glutamine synthetase [Seizure: European Journal of Epilepsy 86 (2021) 152-154]](https://attachments.academia-assets.com/101100277/thumbnails/1.jpg)
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Operative neurosurgery, Jul 2, 2024
Neuro-oncology, Jun 18, 2024
Neuro-oncology, Jun 18, 2024
Neuro-oncology, Jun 18, 2024
Frontiers in endocrinology, Apr 11, 2024
Journal of Cranio-maxillofacial Surgery, Dec 1, 2018
S kull base lesions comprise a range of pathologies of neural, mesenchymal, notochordal, vascular... more S kull base lesions comprise a range of pathologies of neural, mesenchymal, notochordal, vascular, and, sometimes, epithelial origin. Such lesions are relatively rare in children and are mostly benign. 40 However, benign tumors can grow to exert mass effect and cause significant morbidity. 4 In many of these cases, excision is mandatory for their management. Additionally, skull base trauma may result in rhinorrhea requiring surgical repair. Pathology and trauma to the anterior cranial base have historically been approached via craniofacial resections. Although variations on this technique exist, most invariably involve a craniotomy, a transfacial approach, or a combined craniofacial approach. 26,41,60,61 Deep lesions may require brain retraction, heightening the risk of frontal lobe edema, infection, pneumocephalus, and other complications. 24,26 These approaches in children pose at Endoscopic endonasal skull base surgery in the pediatric population Clinical article
International Journal of Surgical Pathology, Jun 18, 2021
Although radiotherapy and chemotherapy followed by surgery is the most accepted treatment strateg... more Although radiotherapy and chemotherapy followed by surgery is the most accepted treatment strategy, the prognosis is still poor.
Journal of Neurosurgery: Pediatrics
OBJECTIVE Endoscopic mini-invasive treatment for sporadic trigonocephaly is becoming a widely acc... more OBJECTIVE Endoscopic mini-invasive treatment for sporadic trigonocephaly is becoming a widely accepted surgical treatment. In most centers this treatment is performed in association with postoperative helmeting. The aim of the present study was to review and report the authors’ 11-year experience of endoscope-assisted metopic suturectomy for treatment of 62 trigonocephaly patients without helmet use. METHODS For this retrospective study, clinical data of 62 consecutive pediatric patients (age 3–8 months) were obtained from the data bank of the “Anna Meyer” Children Hospital. These patients had been diagnosed with trigonocephaly (type II and III) and undergone surgery performed with a mini-invasive endoscopic technique during the period from January 2011 to January 2022. No helmet was used postoperatively in these patients, and they were evaluated through craniometric measurements, pre-/postoperative photographs, and parents’ impressions, as well as thorough clinical examinations dur...
Journal of neurosurgery, Mar 1, 2023
OBJECTIVE Endoscopic mini-invasive treatment for sporadic trigonocephaly is becoming a widely acc... more OBJECTIVE Endoscopic mini-invasive treatment for sporadic trigonocephaly is becoming a widely accepted surgical treatment. In most centers this treatment is performed in association with postoperative helmeting. The aim of the present study was to review and report the authors’ 11-year experience of endoscope-assisted metopic suturectomy for treatment of 62 trigonocephaly patients without helmet use. METHODS For this retrospective study, clinical data of 62 consecutive pediatric patients (age 3–8 months) were obtained from the data bank of the “Anna Meyer” Children Hospital. These patients had been diagnosed with trigonocephaly (type II and III) and undergone surgery performed with a mini-invasive endoscopic technique during the period from January 2011 to January 2022. No helmet was used postoperatively in these patients, and they were evaluated through craniometric measurements, pre-/postoperative photographs, and parents’ impressions, as well as thorough clinical examinations during follow-up appointments. RESULTS The mean patient follow-up period was 6 ± 1.3 years. The female/male ratio was 1:2; 52% of the patients presented with type II trigonocephaly and the remaining patients with type III. The mean age at surgery was 153 ± 44 days (5 ± 1.5 months, range 3–8 months). In 92% of the patients the surgical outcome was defined as good to excellent. However, 4 patients presented with an unsatisfactory outcome, including 1 patient with a CSF collection requiring surgical repair 2 months after the first surgery and 1 patient who developed infection of the surgical wound and needed a second surgery. In the latter patient the outcome was evaluated as satisfactory, and no sequelae regarding the infection were encountered during follow-up. CONCLUSIONS According to the authors’ experience, endoscopic metopic suturectomy alone, without the use of a helmet, is a valid surgical option for trigonocephaly treatment, and its application can be considered in patients of older age groups (up to 8 months). Thus, in the right patient selection context, this technique represents the treatment of choice.
Pediatric Neurosurgery
Introduction: Cavernous malformations of the ventral brainstem are a challenging disease to treat... more Introduction: Cavernous malformations of the ventral brainstem are a challenging disease to treat. From an anatomical perspective, the best surgical options are endoscopic endonasal approaches. The first reports of their usage for this purpose date back to 2012. In this study, we gathered data on the subject, share our experience, and outline technical notes and tips for this surgery. Case Presentation: We report a 14-year-old female with a ventral pons cavernoma, treated using an endoscopic endonasal transclival approach and followed-up for 5.9 years. This is the longest reported follow-up for this condition to date. Written informed consent was obtained from the patient for publication of this case report and the accompanying images. Discussion: An endoscopic endonasal transclival approach was used. The skull base was reconstructed using the multilayer grafting technique and a nasoseptal flap. There was no postoperative cerebrospinal fluid leakage. In a literature review, we ident...
Medico e Bambino
Microcephaly is a medical condition involving a smaller-than-normal head. Microcephaly may presen... more Microcephaly is a medical condition involving a smaller-than-normal head. Microcephaly may present at birth or it may develop in the first few years of life. Patients with this disorder often have an intellectual disability, poor motor function, poor speech, abnormal facial features and seizures. Microcephaly does not have to suggest exclusively a craniosynostosis. Over the last decade, cranial suture ultrasound has played an increasingly important role in diagnosing craniosynostosis; ultrasound allows a differential diagnosis between craniosynostosis and a positional malformation to be made. A cranial suture is considered normal if a hypoechoic space has been identified between two hyperechoic bony plates. The anterior fontanelle is the largest fontanelle and is placed at the junction of the sagittal suture, coronal suture and frontal suture. The fontanelle allows the skull to deform during birth to ease its passage through the birth canal and for expansion of the brain after birth...
Cancers
Medulloblastoma is the most common malignant brain tumor in children. Even if current treatment d... more Medulloblastoma is the most common malignant brain tumor in children. Even if current treatment dramatically improves the prognosis, survivors often develop long-term treatment-related sequelae. The current radiotherapy standard for medulloblastoma is craniospinal irradiation with a boost to the primary tumor site and to any metastatic sites. Proton therapy (PT) has similar efficacy compared to traditional photon-based radiotherapy but might achieve lower toxicity rates. We report on our multi-centric experience with 43 children with medulloblastoma (median age at diagnosis 8.7 years, IQR 6.6, M/F 23/20; 26 high-risk, 14 standard-risk, 3 ex-infant), who received active scanning PT between 2015 and 2021, with a focus on PT-related acute-subacute toxicity, as well as some preliminary data on late toxicity. Most acute toxicities were mild and manageable with supportive therapy. Hematological toxicity was limited, even among HR patients who underwent hematopoietic stem-cell transplantat...
Genes, 2022
Pediatric high-grade gliomas (pHGGs) encompass a heterogeneous group of tumors. Three main molecu... more Pediatric high-grade gliomas (pHGGs) encompass a heterogeneous group of tumors. Three main molecular types (H3.3 mutant, IDH mutant, and H3.3/IDH wild-type) and a number of subtypes have been identified. We provide an overview of pHGGs and present a mono-institutional series. We studied eleven non-related pHGG samples through a combined approach of routine diagnostic tools and a gene panel. TP53 and H3F3A were the most mutated genes (six patients each, 54%). The third most mutated gene was EGFR (three patients, 27%), followed by PDGFRA and PTEN (two patients each, 18%). Variants in the EZHIP, MSH2, IDH1, IDH2, TERT, HRAS, NF1, BRAF, ATRX, and PIK3CA genes were relatively infrequent (one patient each, 9%). In one case, gene panel analysis documented the presence of a pathogenic IDH2 variant (c.419G>A, p.Arg140Gln) never described in gliomas. More than one-third of patients carry a variant in a gene associated with tumor-predisposing syndromes. The absence of constitutional DNA did...
Human Genetics, 2020
Type 1 Chiari malformation (C1M) is characterized by cerebellar tonsillar herniation of 3–5 mm or... more Type 1 Chiari malformation (C1M) is characterized by cerebellar tonsillar herniation of 3–5 mm or more, the frequency of which is presumably much higher than one in 1000 births, as previously believed. Its etiology remains undefined, although a genetic basis is strongly supported by C1M presence in numerous genetic syndromes associated with different genes. Whole-exome sequencing (WES) in 51 between isolated and syndromic pediatric cases and their relatives was performed after confirmation of the defect by brain magnetic resonance image (MRI). Moreover, in all the cases showing an inherited candidate variant, brain MRI was performed in both parents and not only in the carrier one to investigate whether the defect segregated with the variant. More than half of the variants were Missense and belonged to the same chromatin-remodeling genes whose protein truncation variants are associated with severe neurodevelopmental syndromes. In the remaining cases, variants have been detected in ge...