Publications by authors named "Luca Massimi"

178 Publications

A novel homozygous variant in JAM3 gene causing hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC) with neonatal onset.

Neurol Sci 2021 Jul 22. Epub 2021 Jul 22.

Università Cattolica del Sacro Cuore, Rome, Italy.

Background: JAM3 gene, located on human chromosome 11q25, encodes a member of the junctional adhesion molecule (JAM) family. Mutations of this gene are associated with hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC).

Case Report: Herein, we present a newborn male with a prenatal suspicion of bilateral cataracts but without fetal ultrasound findings of cortical malformations. He was postnatally diagnosed with a clinical picture of HDBSCC and Early-onset Developmental and Epileptic Encephalopathy (DEE), associated to a homozygous variant of JAM3 gene.

Conclusion: Identification of this variant in affected individuals has implications for perinatal and postnatal management and genetic counseling. To the best of our knowledge, this is the first case reported of a child with a JAM3 variant in Italy, from a different ethnic background than the other reported children until now (Saudi Arabian, Turkish, Afghani, and Moroccan origin). JAM3 screening could be requested in prenatal diagnosis of fetal congenital cataracts and included in Next-Generation DNA Sequencing panels.
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http://dx.doi.org/10.1007/s10072-021-05480-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8295029PMC
July 2021

Posterior vault "free-floating" bone flap: indications, technique, advantages, and drawbacks.

Childs Nerv Syst 2021 Jul 15. Epub 2021 Jul 15.

Pediatric Neurosurgery, Institute of Neurosurgery, Fondazione Policlinico Gemelli, IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy.

Background: The enlargement of the posterior cranial fossa volume is considered one of the main steps of the surgical management of children with multiple sutures craniosynostosis. Different management options have been proposed including fixed expansive craniotomy, free bone flap craniotomy, and distraction osteogenesis.

Objectives: To review indications to "free bone flap" craniotomy for the posterior fossa expansion, detailing advantages, disadvantages, and complications related to the technique.

Results And Conclusions: A review of the literature shows that "free bone flap" posterior expansion cranioplasty still has a role, particularly in infants with thin and "honeycomb" structure of the bone, allowing to gain adequate intracranial volume increases and to postpone to a more adequate time surgery aimed at anterior cranial fossa expansion.
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http://dx.doi.org/10.1007/s00381-021-05281-xDOI Listing
July 2021

Functional and morphological changes in hypoplasic posterior fossa.

Childs Nerv Syst 2021 Jun 25. Epub 2021 Jun 25.

Neurochirurgia Infantile, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

Background: The knowledge of the development and the anatomy of the posterior cranial fossa (PCF) is crucial to define the occurrence and the prognosis of diseases where the surface and/or the volume of PCF is reduced, as several forms of craniosynostosis or Chiari type I malformation (CIM). To understand the functional and morphological changes resulting from such a hypoplasia is mandatory for their correct management. The purpose of this article is to review the pertinent literature to provide an update on this topic.

Methods: The related and most recent literature addressing the issue of the changes in hypoplasic PCF has been reviewed with particular interest in the studies focusing on the PCF characteristics in craniosynostosis, CIM, and achondroplasia.

Results And Conclusions: In craniosynostoses, namely, the syndromic ones, PCF shows different degrees of hypoplasia, according to the different pattern and timing of early suture fusion. Several factors concur to PCF hypoplasia and contribute to the resulting problems (CIM, hydrocephalus), as the fusion of the major and minor sutures of the lambdoid arch, the involvement of the basal synchondroses, and the occlusion of the jugular foramina. The combination of these factors explains the variety of the clinical and radiological phenotypes. In primary CIM, the matter is complicated by the evidence that, in spite of impaired PCF 2D measurements and theories on the mesodermal defect, the PCF volumetry is often comparable to healthy subjects. CIM is revealed by the overcrowding of the foramen magnum that is the result of a cranio-cerebral disproportion (altered PCF brain volume/PCF total volume). Sometimes, this disproportion is evident and can be demonstrated (basilar invagination, real PCF hypoplasia); sometimes, it is not. Some recent genetic observations would suggest that CIM is the result of an excessive growth of the neural tissue rather than a reduced growth of PCF bones. Finally, in achondroplasia, both macrocephaly and reduced 2D and 3D values of PCF occur. Some aspects of this disease remain partially obscure, as the rare incidence of hydrocephalus and syringomyelia and the common occurrence of asymptomatic upper cervical spinal cord damage. On the other hand, the low rate of CIM could be explained on the basis of the reduced area of the foramen magnum, which would prevent the hindbrain herniation.
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http://dx.doi.org/10.1007/s00381-021-05193-wDOI Listing
June 2021

Diagnosis and treatment of Chiari malformation and syringomyelia in adults: international consensus document.

Neurol Sci 2021 Jun 15. Epub 2021 Jun 15.

Department of Neurosurgery, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Background: Syringomyelia and Chiari malformation are classified as rare diseases on Orphanet, but international guidelines on diagnostic criteria and case definition are missing.

Aim Of The Study: to reach a consensus among international experts on controversial issues in diagnosis and treatment of Chiari 1 malformation and syringomyelia in adults.

Methods: A multidisciplinary panel of the Chiari and Syringomyelia Consortium (4 neurosurgeons, 2 neurologists, 1 neuroradiologist, 1 pediatric neurologist) appointed an international Jury of experts to elaborate a consensus document. After an evidence-based review and further discussions, 63 draft statements grouped in 4 domains (definition and classification/planning/surgery/isolated syringomyelia) were formulated. A Jury of 32 experts in the field of diagnosis and treatment of Chiari and syringomyelia and patient representatives were invited to take part in a three-round Delphi process. The Jury received a structured questionnaire containing the 63 statements, each to be voted on a 4-point Likert-type scale and commented. Statements with agreement <75% were revised and entered round 2. Round 3 was face-to-face, during the Chiari Consensus Conference (Milan, November 2019).

Results: Thirty-one out of 32 Jury members (6 neurologists, 4 neuroradiologists, 19 neurosurgeons, and 2 patient association representatives) participated in the consensus. After round 2, a consensus was reached on 57/63 statements (90.5%). The six difficult statements were revised and voted in round 3, and the whole set of statements was further discussed and approved.

Conclusions: The consensus document consists of 63 statements which benefited from expert discussion and fine-tuning, serving clinicians and researchers following adults with Chiari and syringomyelia.
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http://dx.doi.org/10.1007/s10072-021-05347-3DOI Listing
June 2021

Diagnosis and treatment of Chiari malformation type 1 in children: the International Consensus Document.

Neurol Sci 2021 Jun 7. Epub 2021 Jun 7.

Neurosurgery and Pediatric Neurosurgery, Vall d'Hebron Hospital Universitari, Neurotrauma and Neurosurgery Research Unit, and Universitat Autònoma de Barcelona, Barcelona, Spain.

Background: Chiari malformation type 1 (CM1) is a rare condition where agreed classification and treatment are still missing. The goal of this study is to achieve a consensus on the diagnosis and treatment of CM1 in children.

Methods: A multidisciplinary panel formulated 57 provisional statements based on a review of the literature. Thirty-four international experts (IE) participated in a Delphi study by independently rating each statement on a 4-point Likert scale ("strongly disagree," "disagree," "agree," "strongly agree"). Statements that were endorsed ("agree" or "strongly agree") by < 75% of raters were re-formulated, or new statements were added, and another Delphi round followed (up to a maximum of three).

Results: Thirty-five IE were contacted and 34 agreed to participate. A consensus was reached on 30/57 statements (52.6%) after round 1. Three statements were added, and one removed. After round 2, agreement was reached on 56/59 statements (94.9%). Finally, after round 3, which took place during the 2019 Chiari Consensus Conference (Milan, Italy), agreement was reached on 58/59 statements (98.3%) about four main sections (Definition and Classification, Planning, Surgery, Isolated Syringomyelia). Only one statement did not gain a consensus, which is the "definition of radiological failure 24 month post-surgery."

Conclusions: The consensus document consists of 58 statements (24 on diagnosis, 34 on treatment), serving clinicians and researchers following children with CM1. There is a clear need for establishing an international network and registry and to promote collaborative studies to increase the evidence base and optimize the long-term care of this patient population.
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http://dx.doi.org/10.1007/s10072-021-05317-9DOI Listing
June 2021

Ventriculosubgaleal shunt and neuroendoscopic lavage: refining the treatment algorithm of neonatal post-hemorrhagic hydrocephalus.

Childs Nerv Syst 2021 May 20. Epub 2021 May 20.

Pediatric Neurosurgery, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Agostino Gemelli, 8, 00168, Rome, Italy.

Background: The optimal management of neonatal post-hemorrhagic hydrocephalus (PHH) is still debated, though several treatment options have been proposed. In the last years, ventriculosubgaleal shunt (VSgS) and neuroendosdcopic lavage (NEL) have been proposed to overcome the drawbacks of more traditional options, such as external ventricular drainage and ventricular access device.

Methods: We retrospectively reviewed neonates affected by PHH treated at our institution since September 2012 to September 2020. Until 2017 patients received VSgS as initial treatment. After the introduction of NEL, this treatment option was offered to patients with large intraventricular clots. After NEL, VSgS was always placed. Primary VSgS was reserved to patients without significant intraventricular clots and critically ill patients that could not be transferred to the operating room and undergo a longer surgery.

Results: We collected 63 babies (38 males and 25 females) with mean gestational age of 27.8 ± 3.8SD weeks (range 23-38.5 weeks) and mean birthweight of 1199.7 ± 690.6 SD grams (range 500-3320 g). In 6 patients, hemorrhage occurred in the third trimester of gestation, while in the remaining cases hemorrhage complicated prematurity. This group included 37 inborn and 26 outborn babies. Intraventricular hemorrhage was classified as low grade (I-II according to modified Papile grading scale) in 7 cases, while in the remaining cases the grade of hemorrhage was III to IV. Mean age at first neurosurgical procedure was 32.2 ± 3.6SD weeks (range 25.4-40 weeks). Death due to prematurity occurred in 5 patients. First-line treatment was VSgS in 49 patients and NEL in the remaining 14 cases. Mean longevity of VSgS was 30.3 days (range 10-97 days) in patients finally requiring an additional treatment of hydrocephalus. Thirty-two patients required one to three redo VSgS. Interval from initial treatment to permanent shunt ranged from 14 to 312 days (mean 70.9 days). CSF infection was observed in 5 patients (7.9%). Shunt dependency was observed in 51 out of 58 surviving patients, while 7 cases remained shunt-free at the last follow-up. Multiloculated hydrocephalus was observed in 14 cases. Among these, only one patient initially received NEL and was complicated by isolated trapped temporal horn.

Conclusions: VSgS and NEL are two effective treatment options in the management of PHH. Both procedures should be part of the neurosurgical armamentarium to deal with PHH, since they offer specific advantages in selected patients. A treatment algorithm combining these two options may reduce the infectious risk and the risk of multiloculated hydrocephalus.
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http://dx.doi.org/10.1007/s00381-021-05216-6DOI Listing
May 2021

The BET Inhibitor OTX015 Exhibits In Vitro and In Vivo Antitumor Activity in Pediatric Ependymoma Stem Cell Models.

Int J Mol Sci 2021 Feb 13;22(4). Epub 2021 Feb 13.

UOC Pediatric Oncology, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.

Childhood ependymomas are heterogenous chemoresistant neoplasms arising from aberrant stem-like cells. Epigenome deregulation plays a pivotal role in ependymoma pathogenesis, suggesting that epigenetic modifiers hold therapeutic promise against this disease. Bromodomain and extraterminal domain (BET) proteins are epigenome readers of acetylated signals in histones and coactivators for oncogenic and stemness-related transcriptional networks, including MYC/MYCN (Proto-Oncogene, BHLH Transcritpion Factor)-regulated genes. We explored BET inhibition as an anticancer strategy in a panel of pediatric patient-derived ependymoma stem cell models by OTX015-mediated suppression of BET/acetylated histone binding. We found that ependymoma tissues and lines express BET proteins and their targets MYC and MYCN. In vitro, OTX015 reduced cell proliferation by inducing G0/G1-phase accumulation and apoptosis at clinically tolerable doses. Mechanistically, inhibitory p21 and p27 increased in a p53-independent manner, whereas the proliferative driver, phospho-signal transducer and activator of transcription 3 (STAT3), decreased. Upregulation of apoptosis-related proteins and survivin downregulation were correlated with cell line drug sensitivity. Minor alterations of MYC/MYCN expression were reported. In vivo, OTX015 significantly improved survival in 2/3 orthotopic ependymoma models. BET proteins represent promising targets for pharmaceutical intervention with OTX015 against ependymoma. The identification of predictive determinants of sensitivity may help identify ependymoma molecular subsets more likely to benefit from BET inhibitor therapies.
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http://dx.doi.org/10.3390/ijms22041877DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7918371PMC
February 2021

Integrated molecular and clinical analysis of low-grade gliomas in children with neurofibromatosis type 1 (NF1).

Acta Neuropathol 2021 04 14;141(4):605-617. Epub 2021 Feb 14.

Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.

Low-grade gliomas (LGGs) are the most common childhood brain tumor in the general population and in individuals with the Neurofibromatosis type 1 (NF1) cancer predisposition syndrome. Surgical biopsy is rarely performed prior to treatment in the setting of NF1, resulting in a paucity of tumor genomic information. To define the molecular landscape of NF1-associated LGGs (NF1-LGG), we integrated clinical data, histological diagnoses, and multi-level genetic/genomic analyses on 70 individuals from 25 centers worldwide. Whereas, most tumors harbored bi-allelic NF1 inactivation as the only genetic abnormality, 11% had additional mutations. Moreover, tumors classified as non-pilocytic astrocytoma based on DNA methylation analysis were significantly more likely to harbor these additional mutations. The most common secondary alteration was FGFR1 mutation, which conferred an additional growth advantage in multiple complementary experimental murine Nf1 models. Taken together, this comprehensive characterization has important implications for the management of children with NF1-LGG, distinct from their sporadic counterparts.
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http://dx.doi.org/10.1007/s00401-021-02276-5DOI Listing
April 2021

Computer tomography-based quantitative analysis of the orbital proptosis severity in infants with syndromic craniosynostosis: case-control study.

Childs Nerv Syst 2021 05 8;37(5):1659-1668. Epub 2021 Feb 8.

Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma-UOC Radiologia e Neuroradiologia, Polo Diagnostica per immagini, radioterapia, oncologia ed ematologia, Area diagnostica per immagini, Largo Francesco Vito 1, -00168, Rome, Italy.

Purpose: Evaluation of orbital proptosis and sutural synostosis pattern along the coronal ring in craniofaciosynostosis patients with or without fibroblastic growth factor receptor 2 (FGFR2) mutation.

Methods: High-resolution computer tomography was used to assess, in children with or without FGFR2 mutation, the early synostotic involvement of the "major" and "minor" sutures/synchondroses of the coronal arch along with the following orbital parameters: interorbital angle, bone orbital cavity volume, globe volume, ventral globe volume, ventral globe index.

Results: Infants with FGFR2 mutation showed an increased number of closed minor sutures/synchondroses along the posterior coronal branch while both groups showed a comparable synostotic involvement of the minor sutures of the anterior coronal branch. FGFR2 infants with posterior coronal branch synostotic involvement showed a higher degree of proptosis due to both reduced bony cavity volume and increased globe volume (p<0.05).

Conclusions: Our data show that FGFR2 mutation together with posterior coronal branch synostotic involvement has a synergic effect in causing a more severe degree of orbital proptosis.
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http://dx.doi.org/10.1007/s00381-021-05062-6DOI Listing
May 2021

Managing children with brain tumors during the COVID-19 era: Don't stop the care!

Comput Struct Biotechnol J 2021 12;19:705-709. Epub 2021 Jan 12.

Pediatric Oncology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica Sacro Cuore, Rome, Italy.

The COVID-19 pandemic has substantially stressed health care systems globally, subsequently reducing cancer care services and delaying treatments. Pediatric populations infected by COVID-19 have shown mild clinical symptoms compared to adults, perhaps due to decreased susceptibility. Several scientific societies and governments have released information on the management of patients with cancer, wherein they warn against exposure to SARS-CoV-2 infection and suggest continuing treatment. To determine the best diagnostic and therapeutic approach, multidisciplinary tumor boards should convene regularly, including through conference calls and telematics platforms. A prompt diagnostic workup may reduce children's suffering and prevent loss of confidence in the health care system among parents. Moreover, ensuring adequate support and information regarding measures for preventing SARS-CoV-2 infection in pediatric patients and their families is essential for avoiding panic and excessive stress, allowing early reporting of any suspected symptoms of cancer and, in turn, facilitating early diagnosis and prompt modulation of treatment.
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http://dx.doi.org/10.1016/j.csbj.2021.01.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7817528PMC
January 2021

Characterization of high-grade pineal region lesions: the usefulness of apparent diffusion coefficient volumetric values.

Acta Radiol 2021 Jan 26:284185120986912. Epub 2021 Jan 26.

Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma-UOC Radiologia e Neuroradiologia, Polo Diagnostica per immagini, radioterapia, oncologia ed ematologia, Area diagnostica per immagini, Rome, Italy.

Background: High-grade pineal region tumors are rare and heterogeneous types of primary central nervous system neoplasms; radiological differential diagnosis is challenging but it is important because it has a therapeutic relevance.

Purpose: To discriminate among high-grade pineal region tumors by combining apparent diffusion coefficient (ADC) volumetric values and qualitative features in order to predict their histology.

Material And Methods: Twenty-two patients with high-grade pineal region tumors were assessed by qualitative and quantitative analysis. Margins, T2-weighted signal intensity, contrast enhancement, hemorrhage, calcifications, different volumetric ADC fractions (ADC, ADC, ADC) were evaluated and were compared to the histopathologic findings (cell count and proliferation index).

Results: Our qualitative imaging data showed that only margins were different among different tumors and each tumor type showed peculiar age onset. ADC was found the best quantitative value to discriminate high-grade tumors of the pineal region. ADC correlated with proliferation index but not with cell count. ADC values were lower in tumors with higher proliferation rate and a significant difference in ADC values were found between germinomas and pineoblastomas, between germinomas and papillary tumors and between papillary tumors and pineoblastomas. Moreover, the cut-off value of 0.865 × 10 mm/s for ADC (ADC mean threshold value) could differentiate germinoma from pineoblastomas with the best combination of sensitivity and specificity.

Conclusion: The ADC value measured on the whole tumor, reflecting tumor proliferative activity, may be a practical and non-invasive marker for predicting tumor histology in high-grade pineal region lesions and might be useful in preoperative assessment.
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http://dx.doi.org/10.1177/0284185120986912DOI Listing
January 2021

A case report of confusing meningoencephalocele.

Clin Case Rep 2021 Jan 4;9(1):109-112. Epub 2020 Dec 4.

Pescara Public Hospital Neonatal Intensive Care Unit Pescara Italy.

The clinical approach plays a pivotal role in neonates with evidence of a skull mass, together with the need of monitoring unclear cases. Indeed, apparently transient alterations of the skull may be neural tube defects, which need prompt treatment.
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http://dx.doi.org/10.1002/ccr3.3470DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7812997PMC
January 2021

Pattern of Relapse and Treatment Response in WNT-Activated Medulloblastoma.

Cell Rep Med 2020 Jun;1(3)

Departments of Pediatrics, Anatomy, and Neurobiology, Washington University School of Medicine, St. Louis, MO, USA.

Over the past decade, wingless-activated (WNT) medulloblastoma has been identified as a candidate for therapy de-escalation based on excellent survival; however, a paucity of relapses has precluded additional analyses of markers of relapse. To address this gap in knowledge, an international cohort of 93 molecularly confirmed WNT MB was assembled, where 5-year progression-free survival is 0.84 (95%, 0.763-0.925) with 15 relapsed individuals identified. Maintenance chemotherapy is identified as a strong predictor of relapse, with individuals receiving high doses of cyclophosphamide or ifosphamide having only one very late molecularly confirmed relapse (p = 0.032). The anatomical location of recurrence is metastatic in 12 of 15 relapses, with 8 of 12 metastatic relapses in the lateral ventricles. Maintenance chemotherapy, specifically cumulative cyclophosphamide doses, is a significant predictor of relapse across WNT MB. Future efforts to de-escalate therapy need to carefully consider not only the radiation dose but also the chemotherapy regimen and the propensity for metastatic relapses.
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http://dx.doi.org/10.1016/j.xcrm.2020.100038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7394286PMC
June 2020

Neurocutaneous Melanosis in Infancy: Always a Dismal Prognosis?

Turk Neurosurg 2020 ;30(4):476-482

Fondazione Policlinico Gemelli IRCSS, Department of Pediatric Neurosurgery, Rome, Italy.

Aim: To analyze the current literature on neurocutaneous melanosis (NCM), as well as, our cases, in order to better define the prognosis and the presence of risk factors affecting it, thus, offering better information to the parents.

Material And Methods: Two cases observed at the Pediatric Neurosurgery Unit of the Catholic University Medical School in Rome are described. Both of them had cutaneous stigmata and cerebral MR evidence of intracranial melanin deposits. These two children showed a very different clinical course.

Results: The present study enlighten the differences among the two cases and review the literature on the subject, with the attempt to understand which are clinical and disease related factors that might influence the prognosis.

Conclusion: Beside malignant features of cutaneous melanotic lesions, the presence of hydrocephalus at diagnosis and the early appearance of clinical symptoms, when appearing contemporarily, are predicting the rapid progression of the disease and a worse prognosis.
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http://dx.doi.org/10.5137/1019-5149.JTN.27908-19.3DOI Listing
November 2020

Gelfoam Migration: A Potential Cause of Recurrent Hydrocephalus.

World Neurosurg 2020 10 4;142:212-217. Epub 2020 Jul 4.

Pediatric Neurosurgery, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Institute of Neurosurgery, Università Cattolica del Sacro Cuore, Rome, Italy. Electronic address:

Background: Gelfoam is a simple and effective hemostatic agent that is used to seal brain corticotomies or skull burr holes. Owing to its low cost, it is one of the most widely used tools in neurosurgical daily practice. However, migration of Gelfoam fragments can cause occlusion of endoscopic third ventriculostomy (ETV) or shunt, leading to hydrocephalus recurrence.

Case Description: Two cases of Gelfoam migration causing recurrent hydrocephalus are presented: a 12-year-old girl who underwent surgery for posterior fossa tumor removal and ETV for associated hydrocephalus, where a portion of Gelfoam (used to seal the burr hole) migrated up to close the ETV, and a preterm 8-month-old boy who was treated by neuroendoscopic brain lavage and afterward by ventriculoperitoneal shunt for posthemorrhagic hydrocephalus, where all the Gelfoam used to close the corticotomy migrated into the lateral ventricle, thus reopening the corticotomy and releasing small fragments that ultimately obstructed the shunt. A new endoscopic procedure was required in both patients (the second patient also required a shunt revision).

Conclusions: Review of the pertinent literature discloses other complications of Gelfoam migration (e.g., mass effect, granulomatous reaction) as well as other causes of uncommon ETV/shunt obstruction. Nonetheless, Gelfoam will remain an indispensable tool for neurosurgeons. The present report emphasizes the importance of its correct use to avoid complications.
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http://dx.doi.org/10.1016/j.wneu.2020.06.214DOI Listing
October 2020

Adamantinomatous craniopharyngioma: advances in proteomic research.

Childs Nerv Syst 2021 03 2;37(3):789-797. Epub 2020 Jul 2.

UOC Neurochirurgia Infantile, Dipartimento di Scienze dell'Invecchiamento, Neurologiche, Ortopediche e della Testa-Collo; Fondazione Policlinico Universitario A. Gemelli - IRCCS, Università Cattolica del Sacro Cuore, Largo Gemelli 1, 00168, Rome, Italy.

Background: Many efforts have been performed in the last decade to accomplish the genomic and proteomic characterization of pediatric adamantinomatous craniopharyngioma with the purpose to elucidate the molecular mechanisms underlying the onset and development of this pediatric brain tumor, its high recurrence rate, and, although classified as a histologically benign neoplasm, its aggressive behavior.

Methods: The focus of this review is to perform the new comparison of the proteomic profiles of the solid component and the intracystic fluid of adamantinomatous craniopharyngioma based on our previous results, obtained by both the top-down and the bottom-up proteomic approaches, to disclose differences and similarities, and to discuss the results in the context of the most recent literature.

Results And Conclusions: Proteins and peptides identified in the cyst fluid and in the solid component of adamantinomatous craniopharyngioma (AC) include beyond markers of inflammation (i.e., alpha-defensins), proteins involved in cell migration and protein degradation (i.e., beta-thymosin and ubiquitin peptides), whose main role might be in tumor growth and infiltration of the surrounding neural structures. These last appeared different in the solid components compared with the cyst fluid, missing their terminal part in the solid tissue, a feature generally associated to malignancies, which might represent a distinct molecular site for an aggressive behavior of AC.
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http://dx.doi.org/10.1007/s00381-020-04750-zDOI Listing
March 2021

Posterior Cranial Fossa Maldevelopment in Infants with Repaired Open Myelomeningoceles: Double Trouble or a Dynamic Process of Posterior Cranial Fossa Abnormalities?

World Neurosurg 2020 09 22;141:e989-e997. Epub 2020 Jun 22.

Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Radiology and Neuroradiology, Diagnostics For Images, Radiotherapy, Oncology and Hematology, Diagnostic Area for Images, Rome, Italy; Institute of Radiology, Catholic University of the Sacred Heart, Rome, Italy.

Objective: Two degrees of posterior cranial fossa (PCF) maldevelopment can be hypothesized in children with myelomeningocele (MMC). This paper investigates the PCF deformation by quantitative magnetic resonance imaging analysis in MMC subjects with and without Chiari 2 malformation (CM2).

Methods: PCF bone volume (PCFV), PCF brain volume (PCFBV), lengths of PCF, ventriculomegaly, level, and extension of the dysraphism were analyzed by magnetic resonance image scanning of 51 newborns with MMC surgically repaired at birth (and 41 controls). The possible correlation among PCF hypoplasia, level/extension of the spinal dysraphism, and ventriculomegaly was assessed.

Results: In MMC and CM2, the dysraphism level was above L4 in 30 and below L4 in 10 subjects. PCFV/PCFBV ratio and supraocciput and exocciput lengths were significantly reduced; foramen magnum diameters, mammillo-pontine distance, and pons length were significantly increased (P < 0.05). In isolated MMC, the dysraphism level was below L4 in all cases. PCFV/PCFBV ratio and supraocciput length were significantly reduced; pons length was significantly increased (P < 0.05). The lower the MMC level, the lower the incidence of CM2. A positive correlation was found between PCF hypoplasia and MMC level above L4 (P < 0.001), while a negative correlation was found among PCF hypoplasia and MMC extension (P = 0.006), PCF hypoplasia, and ventriculomegaly (P = 0.02).

Conclusions: PCF hypoplasia has to be considered a dynamic maldevelopment process in the 2 cohorts rather than 2 separated entities. The level of MMC is the main but not the unique cause influencing the severity of PCF maldevelopment.
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http://dx.doi.org/10.1016/j.wneu.2020.06.106DOI Listing
September 2020

GLI1 and AXIN2 Are Distinctive Markers of Human Calvarial Mesenchymal Stromal Cells in Nonsyndromic Craniosynostosis.

Int J Mol Sci 2020 Jun 19;21(12). Epub 2020 Jun 19.

Dipartimento Scienze della Vita e Sanità Pubblica, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.

All skeletal bones house osteogenic stem cell niches, in which mesenchymal stromal cells (MSC) provide progenitors for tissue growth and regeneration. They have been widely studied in long bones formed through endochondral ossification. Limited information is available on the composition of the osteogenic niche in flat bones (i.e., skull vault bones) that develop through direct membranous ossification. Craniosynostosis (CS) is a congenital craniofacial defect due to the excessive and premature ossification of skull vault sutures. This study aimed at analysing the expression of GLI1, AXIN2 and THY1 in the context of the human skull vault, using nonsyndromic forms of CS (NCS) as a model to test their functional implication in the aberrant osteogenic process. The expression of selected markers was studied in NCS patients' calvarial bone specimens, to assess the in vivo location of cells, and in MSC isolated thereof. The marker expression profile was analysed during in vitro osteogenic differentiation to validate the functional implication. Our results show that GLI1 and AXIN2 are expressed in periosteal and endosteal locations within the osteogenic niche of human calvarial bones. Their expression is higher in MSC isolated from calvarial bones than in those isolated from long bones and tends to decrease upon osteogenic commitment and differentiation. In particular, AXIN2 expression was lower in cells isolated from prematurely fused sutures than in those derived from patent sutures of NCS patients. This suggests that AXIN2 could reasonably represent a marker for the stem cell population that undergoes depletion during the premature ossification process occurring in CS.
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http://dx.doi.org/10.3390/ijms21124356DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7352200PMC
June 2020

Sturge-Weber syndrome: an update on the relevant issues for neurosurgeons.

Childs Nerv Syst 2020 10 21;36(10):2553-2570. Epub 2020 Jun 21.

Neurochirurgia Infantile, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

Purpose: Sturge-Weber syndrome (SWS) is a neurocutaneous facomatosis characterized by facial and leptomeningeal angioma, glaucoma, seizures, and neurological disability. Therefore, a challenging multidisciplinary interaction is required for its management. The goal of this paper is to review the main aspects of SWS and to present an illustrative pediatric series.

Methods: The pertinent literature has been analyzed, focused mainly on etiopathogenesis, pathology, clinical features, diagnostic tools, management, and outcome of the disease. Moreover, a series of 11 children operated on for refractory epilepsy between 2005 and 2015 (minimum follow-up 5 years, mean follow-up 9.6 years) is reported. The series consists of six boys and five girls with 6.5-month and 16.2-month mean age at seizure onset and at surgery, respectively. Seizures affected all children, followed by hemiparesis and psychomotor delay (81%), glaucoma (54%), and other neurological deficits (45%).

Results: All children underwent hemispherectomy (anatomical in three cases, functional in two cases, hemispherotomy in six cases); one patient needed a redo hemispherotomy. Mortality was nil; disseminated intravascular coagulation and interstitial pneumonia occurred in one patient each; three children had subdural fluid collection. Eight patients (72%) are in the ILAE Class 1 (completely seizure and aura free), two in Class 2 (only auras, no seizure), and one in Class 3 (1-3 seizure days per year). AEDs discontinuation was possible in 73% of cases. The most important news from the literature concerned the pathogenesis (role of the mutation of the GNAQ gene in the abnormal SWS vasculogenesis), the clinical findings (the features and pathogenesis of the stroke-like episodes are being understood), the diagnostic tools (quantitative MRI and EEG), and both the medical (migraine, seizures) and surgical management (epilepsy). The epileptic outcome of SWS patients is very good (80% are seizure-free), if compared with other hemispheric syndromes. The quality of life is affected by the neurological and cognitive deficits.

Conclusions: SWS still is an etiological and clinical challenge. However, the improvements over the time are consistent. In particular, the neurosurgical treatment of refractory epilepsy provides very good results as long as the indication to treatment is correct.
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http://dx.doi.org/10.1007/s00381-020-04695-3DOI Listing
October 2020

Securing CSF catheters to the skin: from sutures and bolt system to subcutaneous anchoring device towards zero complications.

Childs Nerv Syst 2020 11 17;36(11):2749-2755. Epub 2020 Jun 17.

Pediatric Neurosurgery, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo Agostino Gemelli, 8, 00168, Rome, Italy.

Introduction: Securing the catheter to the skin either with sutures or staples and to the skull with bolt system still represents the most common options in the management of CSF external drainage. However, these options bear an unavoidable risk of complications. This problem is common to vascular accesses and has been successfully overcome with the introduction of device for subcutaneous anchoring (SecurAcath®, Interrad Medical, Inc., Plymouth, Minnesota), which has rapidly become the standard of care in this field.

Methods: We report our experience with the use of SecurAcath® to secure CSF drainage, either ventricular or spinal. Results were compared with literature data.

Results: Since 2015, SecurAcath® was used in 209 patients (mean age 7 years) to secure 195 external cranial catheters (either ventricular or subdural or intralesional) and 16 spinal drainages. Indwell time ranged from 5 to 30 days. No complication related to the use of the device was observed. In particular, there was no case of dislocation or accidental pullout of the catheter. Rate of infection, or superinfection in case of ventricular catheter implanted for CSF infection, was null.

Conclusions: SecurAcath® is a safe and effective device to secure CSF external catheters, with several relevant advantages, including easy placement and maintenance. Moreover, it may stay in place for the whole duration of the catheter without any skin tissue trauma and allows a complete antisepsis of the exit site, thus reducing local skin complications. This factor has significant impact on the reduction of infection rate of external CSF catheters.
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http://dx.doi.org/10.1007/s00381-020-04737-wDOI Listing
November 2020

Central nervous system high-grade neuroepithelial tumor with BCOR alteration (CNS HGNET-BCOR)-case-based reviews.

Childs Nerv Syst 2020 08 15;36(8):1589-1599. Epub 2020 Jun 15.

Neurochirurgia Infantile, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

Introduction: High-grade neuroepithelial tumor with BCOR alteration (HGNET BCOR) has been recently classified as a new category of tumors among those previously known as PNET. They are molecularly characterized by the mutation of the BCOR gene, a corepressor of BCL6 a gene (which has an important role in immune responses). Only case reports and very small series have been published so far; therefore, their behavior and management are still under investigation. The goal of the present case-based review is to provide a summary about the state of the art on these tumors.

Methods And Results: The pertinent review has been reviewed, and an exemplary case has been reported (15-month-old boy with large HGNET BCOR of the left cerebellopontine angle). So far, 24 cases have been described, with a 5.5 mean age at diagnosis and a 1.4 male/female ratio. The cerebellar hemisphere is the more frequently involved region. No metastases are usually detected at diagnosis, though they are common in case of tumor recurrence. There are no specific radiological or pathological features to differentiate HGNET BCOR from other brain malignant neuroepithelial tumors so that the differential diagnosis is obtained by DNA methylation profiling. The management possibly relies on surgery and (high dose) chemotherapy and radiotherapy but without a dedicated protocol yet. The overall survival after 48-month follow-up is 50%. A gross total resection, which is mandatory for a better outcome, is achievable in the majority of cases.

Conclusions: The clinical research on HGNET BCOR is just at the beginning. New targets and wide-ranging clinical trials are needed to get an optimal management.
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http://dx.doi.org/10.1007/s00381-020-04692-6DOI Listing
August 2020

Transcriptional analyses of adult and pediatric adamantinomatous craniopharyngioma reveals similar expression signatures regarding potential therapeutic targets.

Acta Neuropathol Commun 2020 05 13;8(1):68. Epub 2020 May 13.

Division of Pediatric Neurosurgery, Children's Hospital Colorado, Aurora, USA.

Adamantinomatous craniopharyngioma (ACP) is a biologically benign but clinically aggressive lesion that has a significant impact on quality of life. The incidence of the disease has a bimodal distribution, with peaks occurring in children and older adults. Our group previously published the results of a transcriptome analysis of pediatric ACPs that identified several genes that were consistently overexpressed relative to other pediatric brain tumors and normal tissue. We now present the results of a transcriptome analysis comparing pediatric to adult ACP to identify biological differences between these groups that may provide novel therapeutic insights or support the assertion that potential therapies identified through the study of pediatric ACP may also have a role in adult ACP. Using our compiled transcriptome dataset of 27 pediatric and 9 adult ACPs, obtained through the Advancing Treatment for Pediatric Craniopharyngioma Consortium, we interrogated potential age-related transcriptional differences using several rigorous mathematical analyses. These included: canonical differential expression analysis; divisive, agglomerative, and probabilistic based hierarchical clustering; information theory based characterizations; and the deep learning approach, HD Spot. Our work indicates that there is no therapeutically relevant difference in ACP gene expression based on age. As such, potential therapeutic targets identified in pediatric ACP are also likely to have relvance for adult patients.
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http://dx.doi.org/10.1186/s40478-020-00939-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7222517PMC
May 2020

Multimodal assessment of motor pathways and intracortical connections in functional hemispherectomy.

Childs Nerv Syst 2020 12 9;36(12):3085-3093. Epub 2020 May 9.

Neurology, Neurophysiology and Neurobiology Unit, Department of Medicine, Università Campus Bio-Medico di Roma, Rome, Italy.

Purpose: For selected children with medically intractable epilepsy, hemispherectomy can be an excellent treatment option and its efficacy in achieving seizure freedom or reduction in seizure frequency has been shown in several studies, but patients' selection could not be straightforward and often it is taken on subjective basis. We described a multimodal approach to assess patient eligible for hemispherectomy and possibly predicting post-surgical outcomes.

Methods: We describe pre- and post-surgical clinical features along with neuroradiological results by magnetic resonance imaging (MRI), functional magnetic resonance imaging (fMRI), MR-tractography (MRT), and neurophysiological study by single and paired pulses transcranial magnetic stimulation (TMS) in a child with cerebral palsy with epileptic encephalopathy, eligible for epilepsy surgery.

Results: Presurgical TMS evaluation showed a lateralization of motor function on the left motor cortex for both arms, and results were confirmed by MRI studies. Interestingly, after surgery, both epilepsy and motor performances improved and TMS showed enhancement of intracortical inhibition and facilitation activity.

Conclusion: Functional hemispherectomy is an effective treatment for drug-resistant epilepsy, and multimodal presurgical assessment may be a useful approach to guide surgeons in selecting patients. Moreover, pre- and post-surgical evaluation of these patients may enhance our understanding of brain plasticity phenomena.
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http://dx.doi.org/10.1007/s00381-020-04617-3DOI Listing
December 2020

Syringomyelia and Chiari Syndrome Registry: advances in epidemiology, clinical phenotypes and natural history based on a North Western Italy cohort.

Ann Ist Super Sanita 2020 Jan-Mar;56(1):48-58

Centro Nazionale Malattie Rare, Istituto Superiore di Sanità, Rome, Italy.

Background: Syringomyelia and Chiari Syndrome are classified as rare diseases, but current known occurrence in Europe is missing. The increased ability to diagnose these pathologies by magnetic resonance imaging and its widespread availability has led to an increase of reported cases, often asymptomatic, with the need to standardize definitions, diagnostic criteria and treatments.

Aims: We present shared Interregional Recommendations developed with the primary aim to estimate Syringomyelia and Chiari Syndrome prevalence and incidence in North Western Italy, with special reference to symptomatic forms.

Methods: An agreement for the standardization of definitions, classifications, diagnostic criteria and surgical Recommendations was reached by the multidisciplinary Interregional Piemonte and Valle d'Aosta Chiari-Syringomyelia Consortium (Delphi method); next, in 2011 a census for Syringomyelia and Chiari Malformation was performed through the Interregional Piemonte and Valle d'Aosta Rare Disease Registry, integrated by a dedicated form in order to estimate prevalence and incidence.

Results: 436 patients, 292 females, met shared interregional diagnostic criteria. Syringomyelia prevalence was estimated in 4.84:100 000; Chiari Malformation prevalence was 7.74:100 000; incidence was 0.82:100 000 and 3.08:100 000 respectively. Demographics, neuroradiological parameters and aetiology were reported (in symptomatic and asymptomatic forms). Finally, symptoms and signs, familiar and natural history were analyzed.

Conclusions: First Italian epidemiological data (prevalence, incidence) on Chiari and syringomyelia was collected, according to shared diagnostic Recommendations. Future perspectives include the adoption of these Recommendations at national level to standardize the access to diagnosis and care process and promote multicenter clinical trials.
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http://dx.doi.org/10.4415/ANN_20_01_08DOI Listing
January 2021

Ependymoma Pediatric Brain Tumor Protein Fingerprinting by Integrated Mass Spectrometry Platforms: A Pilot Investigation.

Cancers (Basel) 2020 Mar 13;12(3). Epub 2020 Mar 13.

Istituto di Scienze e Tecnologie Chimiche "Giulio Natta", Consiglio Nazionale delle Ricerche, 00168 Roma, Italy.

Ependymoma pediatric brain tumor occurs at approximate frequencies of 10-15% in supratentorial and 20-30% in posterior fossa regions. These tumors have an almost selective response to surgery and relative and confirmed resistance to radiotherapy and chemotherapic agents, respectively. Alongside histopathological grading, clinical and treatment evaluation of ependymomas currently consider the tumor localization and the genomic outlined associated molecular subgroups, with the supratentorial and the posterior fossa ependymomas nowadays considered diverse diseases. On these grounds and in trying to better understand the molecular features of these tumors, the present investigation aimed to originally investigate the proteomic profile of pediatric ependymoma tissues of different grade and localization by mass spectrometry platforms to disclose potential distinct protein phenotypes. To this purpose, acid-soluble and acid-insoluble fractions of ependymoma tumor tissues homogenates were analyzed by LC-MS following both the top-down and the shotgun proteomic approaches, respectively, to either investigate the intact proteome or its digested form. The two approaches were complementary in profiling the ependymoma tumor tissues and showed distinguished profiles for supratentorial and posterior fossa ependymomas and for WHO II and III tumor grades. Top-down proteomic analysis revealed statistically significant higher levels of thymosin beta 4, 10 kDa heat shock protein, non-histone chromosomal protein HMG-17, and mono-/uncitrullinated forms ratio of the glial fibrillary acidic protein (GFAP) fragment 388-432 in supratentorial ependymomas-the same GFAP fragment as well as the hemoglobin alpha- and the beta-chain marked grade II with respect to grade III posterior fossa ependymomas. Gene ontology classification of shotgun data of the identified cancer and the non-cancer related proteins disclosed protein elements exclusively marking tumor localization and pathways that were selectively overrepresented. These results, although preliminary, seem consistent with different protein profiles of ependymomas of diverse grade of aggressiveness and brain region development and contributed to enlarging the molecular knowledge of this still enigmatic tumor.
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http://dx.doi.org/10.3390/cancers12030674DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7140025PMC
March 2020

Craniofacial Sutural Pattern and Surgical Management in Patients With Different Degrees of Trigonocephaly Severity.

J Comput Assist Tomogr 2020 May/Jun;44(3):374-379

International Neuroscience Institute, Hannover, Germany.

The aim of this study was to identify quantitative tools to classify the severity of trigonocephaly to guide surgical management and predict outcome.

Methods: We reviewed high-resolution computed tomography images of 59 patients with metopic synostosis. We assessed the craniofacial sutural pattern as well as interfrontal and metopic angles, and we related the frontal angulation degree with the sutural pattern, the surgical management, and clinical outcome.

Results: We identified 3 groups according to the severity of trigonocephaly. No difference was found between the sutural pattern of nasion complex and severity, whereas the closure of zygomatic maxillary sutures increased with the severity degree (P < 0.05). The operative management was related to the severity degree (P < 0.001) and to the reduced age (P = 0.009).

Conclusions: Interfrontal and metopic angles are complementary measurements to evaluate with high accuracy the degree of frontal angulation. In preoperative assessment, they may guide surgery decision in particular when the choice is not straightforward.
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http://dx.doi.org/10.1097/RCT.0000000000001002DOI Listing
May 2020

Role of susceptibility-weighted imaging and intratumoral susceptibility signals in grading and differentiating pediatric brain tumors at 1.5 T: a preliminary study.

Neuroradiology 2020 Jun 6;62(6):705-713. Epub 2020 Mar 6.

UOC Radiodiagnostica e Neuroradiologia, Dipartimento di Diagnostica per Immagini, Radioterapia, Oncologia ed Ematologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

Purpose: Susceptibility-weighted imaging (SWI) is useful for glioma grading and discriminating between brain tumor categories in adults, but its diagnostic value for pediatric brain tumors is unclear. Here we evaluated the usefulness of SWI for pediatric tumor grading and differentiation by assessing intratumoral susceptibility signal intensity (ITSS).

Methods: We retrospectively enrolled 96 children with histopathologically diagnosed brain tumors, who underwent routine brain MRI exam with SWI (1.5 T scanner). Each tumor was assigned an ITSS score by a radiology resident and an experienced neuroradiologist, and subsequently by consensus. Statistical analyses were performed to differentiate between low-grade (LG) and high-grade (HG) tumors, histological categories, and tumor locations. Inter-reader agreement was assessed using Cohen's kappa (κ).

Results: The interobserver agreement was 0.844 (0.953 between first reader and consensus, and 0.890 between second reader and consensus). Among all tumors, we found a statistically significant difference between LG and HG for ITSS scores of 0 and 2 (p = 0.002). This correlation was weaker among astrocytomas alone, and became significant when considering only off-midline astrocytomas (p = 0.05). Scores of 0 and 2 were a strong discriminating factor (p = 0.001) for astrocytomas (score 0) and for embryonal, choroid plexus, germ-cell, pineal, and ependymoma tumors (score 2). No medulloblastoma showed a score of 0.

Conclusions: Our preliminary ITTS results in pediatric brain tumors somewhat differed from those obtained in adult populations. These findings highlight the potential valuable role of ITSS for tumor grading and discriminating between some tumor categories in the pediatric population.
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http://dx.doi.org/10.1007/s00234-020-02386-zDOI Listing
June 2020

A systematic quantitative morpho-volumetric analysis in infants with sagittal craniosynostosis and relationship with the severity of scaphocephalic deformity.

Radiol Med 2020 Jun 17;125(6):585-594. Epub 2020 Feb 17.

Polo scienze delle immagini, di laboratorio ed infettivologiche, Area diagnostica per immagini, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario Agostino Gemelli, Largo Francesco Vito 1, 00168, Rome, Italy.

Purpose: Among patients with isolated sagittal synostosis (ISS), the head shape varies considerably in relation to the severity of the abnormality. This study aimed to quantify skull base morphometry and intracranial volume to investigate their relationships with the severity of scaphocephaly.

Methods: We studied 66 infants with ISS identifying three groups according to the morphological severity of cranial deformity (group I: mild deformity; group II: moderate deformity; group III: severe deformity), by combining two scaphocephaly severity indices as descriptors of the relation of three morphological measurements (length, width and height) We perform a quantitative analysis using high-resolution CT images calculating following parameters: cranial fossae dimensions, supratentorial (ICV) and infratentorial (PCFV) cranial volume, supratentorial (WBV) and infratentorial (PCFBV) brain volume, ICV/WBV, PCFV/PCFBV, supratentorial and infratentorial cerebrospinal fluid (CSF).

Results: In all subgroups, anterior and middle skull base lengths were increased, while posterior hemifossae lengths were unchanged. In mild subgroup, ICV/WBV was significantly different and ICV, WBV and CSF supratentorial volume increased (p < 0.05). In moderate and severe subgroups, FCPV/FCPBV was significantly different and CSF infratentorial volume was reduced (p < 0.05); FCPBV was increased only in the severe subgroup (p < 0.05).

Conclusion: This morpho-volumetric study provides new insights in understanding the compensatory changes occurring in infants at different stages of scaphocephaly severity. In particular, our study suggests that patients with severe deformity might have an earlier depletion of reserve mechanisms with a reduced compliance of the overall skull during encephalic growth and these patients might require early surgical cranial expansion.
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http://dx.doi.org/10.1007/s11547-020-01150-wDOI Listing
June 2020

Use of an Oral Device in the Stabilization of Facial Advancement after Early Removal of the Osteodistraction Device for Postoperative Sequelae.

Dent J (Basel) 2020 Jan 19;8(1). Epub 2020 Jan 19.

Maxillofacial Surgery Unit, Fondazione Policlinico Universitario A. Gemelli IRCSS, Catholic University Medical School, 00168 Rome, Italy.

The aim of this study is to present an oral device that improves splanchnocranium stability after osteodistraction in children treated for correction of craniofacial malformations. When removal of the distraction device before the end of the treatment is necessary, the reposition of a new fixation system might not be possible. In these cases, regrown bone is immature, and relapse of malformation occurs frequently. We have been treating these cases by the application of an oral device named Maxillary Advancement Contention (MAC). MAC is used in every patient when any complication interrupts the protocol of osteodistraction before the end of the stabilization time. The device is placed immediately after the removal of the distraction device and left in place for at least three months. We used MAC in six children surgically treated for correction of craniosynostosis with facial or craniofacial advancement. To establish the relapse of malformation we analyzed relations Sella-Nasion-Orbitale (SNOr) and Sella-Nasion-A point (SNA) angles before application of the MAC and after one year. The analysis of stability was excellent in every patient. This device might help, with a minimally invasive procedure, to maintain the obtained advancement allowing stabilization of the regrown bone.
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http://dx.doi.org/10.3390/dj8010012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7148519PMC
January 2020
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