Giuseppe Mirone - Academia.edu (original) (raw)

Papers by Giuseppe Mirone

International Journal of Molecular Sciences

Moyamoya angiopathy (MMA) is a rare cerebral vasculopathy in some cases occurring in children. In... more Moyamoya angiopathy (MMA) is a rare cerebral vasculopathy in some cases occurring in children. Incidence is higher in East Asia, where the heterozygous p.Arg4810Lys variant in RNF213 (Mysterin) represents the major susceptibility factor. Rare variants in RNF213 have also been found in European MMA patients with incomplete penetrance and are today a recognized susceptibility factor for other cardiovascular disorders, from extracerebral artery stenosis to hypertension. By whole exome sequencing, we identified three rare and previously unreported missense variants of RNF213 in three children with early onset of bilateral MMA, and subsequently extended clinical and radiological investigations to their carrier relatives. Substitutions all involved highly conserved residues clustered in the C-terminal region of RNF213, mainly in the E3 ligase domain. Probands showed a de novo occurring variant, p.Phe4120Leu (family A), a maternally inherited heterozygous variant, p.Ser4118Cys (family B), ...

Journal of Neurosurgery: Pediatrics

OBJECTIVE The goals of this study were to evaluate the extent of resection (EOR) obtained with an... more OBJECTIVE The goals of this study were to evaluate the extent of resection (EOR) obtained with an occipital interhemispheric transtentorial approach (OITA) in a series of pediatric patients with pineal region tumors and to define preoperative radiological factors predictive of the EOR. METHODS This is a retrospective cohort study of a series of pediatric patients with pineal tumors who underwent surgery through a microsurgical OITA performed by the senior author during the period from January 2006 to January 2020. The tumor volume was measured preoperatively, and then on sagittal midline cuts the authors identified the most cranial point of the torcular Herophili (defined as the “Herophilus point”) and the lowest point of the inferior profile of the vein of Galen (defined as the “Galen point”). The line joining these two points (defined as the "Herophilus-Galen line" [H-G line]) was used to identify the "Herophilus-Galen plane" (H-G plane) perpendicular to the sa...

Pediatric Hydrocephalus, 2019

Diagnostics, 2022

Posterior fossa tumours (PFTs) in infants are very rare, and information on these tumours is scar... more Posterior fossa tumours (PFTs) in infants are very rare, and information on these tumours is scarce in the literature. This retrospective study reports their pathological characteristics and describes surgical aspects and treatment outcomes. A two-centre cohort of infants with PFTs treated from 2007 to 2018 was retrospectively reviewed. Patient characteristics, clinical, and treatment data were reviewed. Survival curves for progression-free survival (PFS) and overall survival (OS) were generated. Thirty-three infants were retrieved. There were 11 low grade and 22 high-grade tumours. The most common presenting symptom was intracranial hypertension. Fifteen children out of thirty-three progressed. Five-year PFS was significantly lower in children with high-grade tumours (38.3%) than those with low-grade tumours (69.3%), p = 0.030. High-grade pathology was the only predictor of progression (HR 3.7, 95% CI 1.1–13.31), p = 0.045. Fourteen children with high-grade tumours died, with a 5-y...

Clinical Neurology and Neurosurgery, 2021

BACKGROUND Symptomatic cysts of the septum pellucidum (CSP) are extremely rare in children and su... more BACKGROUND Symptomatic cysts of the septum pellucidum (CSP) are extremely rare in children and surgical indications are not well defined. A very careful clinical and neuroradiologic evaluation is necessary to consider a patient for surgical indication. METHODS We present a surgical series of 7 pediatric patients. Clinical and radiological features of the patients, including clinical presentation, previous treatment, pre, and post-operative MRI, immediate postoperative, neuropsychiatric assessment, and outcomes were reviewed. RESULTS There were 5 males and 2 females (mean age 8 yrs). Five patients presented a history of severe intermittent headaches, two of them were admitted with acute symptoms of raised intracranial pressure. One patient presented Epilepsy and ADHD and one patient had severe psychosis. Overall, psychiatric disorders were diagnosed in six patients, three patients had Intellectual Disability (ID). In all cases, the cyst presented a ballooning feature, with a mean volume of 18,36 cm3 (range 10,62-28,5) and significant lateral bulging of both layers. All were operated on endoscopically without complications. After surgery, a very significant decrease in cyst volume was observed (mean volume 5,68 cm3; range 3,18-10,1) with complete disappearance of the ballooning aspect. Headaches resolved in all patients. In two patients operated in emergency papilloedema and vision improved in the first week after surgery. No recurrence of the cysts was noted during follow-up in all patients. CONCLUSIONS CSP may be associated with behavioral or psychiatric problems also in children. Neuroendoscopic surgery is a safe and effective therapeutic modality to treat CSP presenting with symptoms and signs of intracranial hypertension with good clinical results.

Child's Nervous System, 2020

Introduction Neuroendoscopic biopsy represents the procedure of choice for pure intraventricular ... more Introduction Neuroendoscopic biopsy represents the procedure of choice for pure intraventricular lesions. Instead, in case of deep-seated paraventricular tumors, with intact ependyma, the advantage of neuroendoscopy over stereotactic biopsy is not so evident, because the lesion is not under direct vision; the tissue sample may be limited to more superficial ependymal layer, and bleeding may obscurate vision. Also, stereotactic biopsy may reserve additional problems for these lesions: inaccuracy caused by leak of cerebrospinal fluid and increased risk of severe hemorrhage due to damage of the ependymal vessels. Case reports We report two cases of young children affected by thalamic tumors that were biopsied using a modification of a recently proposed technique: endoscopic visual control, neuronavigated needle biopsy. Conclusion This technique may combine the accuracy of a stereotactic needle biopsy with the advantage of visual control on site of ependymal puncture and possibility of immediate bleeding control.

Interdisciplinary Neurosurgery, 2018

Intraventricular hemorrhage following removal of external ventricular drains: report of 2 pediatr... more Intraventricular hemorrhage following removal of external ventricular drains: report of 2 pediatric cases.

World neurosurgery, Jan 30, 2015

Persistent/recurrent shunt infections can be secondary to predisposing factors, such as isolated ... more Persistent/recurrent shunt infections can be secondary to predisposing factors, such as isolated compartments, CSF leaks or foreign bodies. We report the case of 5 year old baby girl, who suffered several episodes of shunt infections. Carefully re-evaluating all the neuro-radiological records of the patient, a foreign body in the left frontal horn of the lateral ventricle was suspected. Finally, endoscopic approach permitted to identify and remove a small fragment of bone wax. To our knowledge this is the first report of intraventricular bone wax responsible of persistent CSF infection. The diagnosis was difficult, because wax resembles air both on computerized tomography and magnetic resonance imaging, so it had been not noticed for months. Only its persistence on several images raised the suspicion of foreign body inside the ventricular system.

Journal of Neurosurgery: Spine, 2009

Object The multilevel oblique corpectomy (MOC) allows widening of the spinal canal and foramen tr... more Object The multilevel oblique corpectomy (MOC) allows widening of the spinal canal and foramen trough via an anterolateral access to the cervical spine with control of the vertebral artery and does not require vertebral stabilization or fusion. In the present study, the authors' goal was to demonstrate the long-term efficacy and safety of MOC in the treatment of selected cases of spondylotic myelopathy. Methods The authors conducted a prospective study in a series of 268 patients who underwent MOC for cervical spondylotic myelopathy over a 14-year period. Preoperative and postoperative neurological functioning were evaluated with the modified Japanese Orthopaedic Association scale. Spinal stability was assessed in all patients on serial plain and dynamic cervical radiographs at the last follow-up. The degree of canal expansion after MOC was also measured using the spinal canal/vertebral body ratio, and directly by measuring the diameter of osseous canal on pre- and postoperative...

World neurosurgery, 2012

The objective of this study is to review the management of hydrocephalus and, in particular, how ... more The objective of this study is to review the management of hydrocephalus and, in particular, how different economic and social conditions affect its treatment around the world. The main techniques for the surgical treatment and the management of hydrocephalus have been retraced through a brief historical overview up to the present day. During the last century, continuous technological progress has favored the diffusion of expensive and sophisticated shunt systems. On the other hand, the advent of minimally invasive endoscopic techniques, such as endoscopic third ventriculostomy, seems to represent a valid route for attempting a natural cerebrospinal fluid diversion, thus avoiding complications related to shunt failure. The management of hydrocephalus around the world is still widely debated. However, definition of proper indications and adequate training in neuroendoscopic techniques seem to represent the preeminent trend for new generations of neurosurgeons.

European Journal of Paediatric Neurology, 2017

To characterize moyamoya (MM) phenomenon, including both moyamoya disease (MMD; isolated moyamoya... more To characterize moyamoya (MM) phenomenon, including both moyamoya disease (MMD; isolated moyamoya) and moyamoya syndrome (MMS; moyamoya associated with another condition) in a nationwide pediatric cohort. Methods: Retrospective chart and radiological review of children with MM referred to Italian centers belonging to the Italian Society of Pediatric Neurology. Results: 39 patients from 15 centers were included (51% males). Race: white in 33, Asian in 4, African in 1. 17 patients had MMD, 22 MMS. Among MMD patients, 17/17 were symptomatic at diagnosis. Mean age at onset was 4.2 years (range 0.5e10 years; 35% < 2 years). Mean time from onset to diagnosis was 13 months. Symptoms at diagnosis: 15 ischemic events, 3 seizures, 5 headache, 1 movement disorder (10/17 > 1 symptom). 5/17 patients had posterior involvement. At follow-up, 5 had radiological disease progression; 13/17 underwent neurosurgery; 12/17 had neurological impairments (5 cognitive, 4 motor, 3 both). Among MMS patients (etiologies: genetic, infectious, hematologic, endocrine disorders, radiotherapy), 17/22 were symptomatic at diagnosis. Mean age at onset was 4.7 years (range 1.2e14.6; 40% < 2 years), mean time from onset to diagnosis was 2.5 years, symptoms at diagnosis: 15 ischemic events (12 stroke), 6 focal seizures, 1 headache, 1 movement disorder (12/17 more than 1 symptom). Posterior involvement in 7/20. At follow-up (21/22), 6 had radiological disease progression, 15/21 underwent neurosurgery, and 15/21 had neurological impairment (7 severe multifactorial deficits). Conclusion: Compared with other pediatric series, our cohort is characterized by lower age at onset, and minor diagnostic delay. Age and symptoms at onset, acute and chronic morbidity are similar in MMD and MMS. Probably due to the effect of the associated condition, patients with MMS present a greater proportion of severe deficits at follow-up.

Pediatric Hydrocephalus, 2018

Pseudotumor cerebri is a condition characterized by raised intracranial pressure, normal CSF cont... more Pseudotumor cerebri is a condition characterized by raised intracranial pressure, normal CSF contents, and normal brain with normal or small ventricles on imaging studies. It is an avoidable cause of visual loss. It affects predominantly obese women of childbearing age; however, its incidence seems to be increasing among adolescents and children. While among older children the clinical picture is similar to that of adults, younger children present demographic and clinical peculiarities. In this chapter we discuss nomenclature and diagnostic criteria, which are quite specific for adults and prepubertal children. Etiology and pathogenesis (particularly concerning the role of obstruction to venous outflow), together with neuroradiological and therapeutical aspects, are also reviewed. Modern neuroimaging techniques, especially magnetic resonance imaging and magnetic resonance venography, may clarify the role of obstruction to venous outflow in each case. Various therapeutic options are available: medical, surgical, and endovascular procedures. Treatment is usually effective, and most patients will experience complete resolution of symptoms without persistent deficits.

Textbook of Pediatric Neurosurgery, 2018

Child's Nervous System, 2021

PurposeTo evaluate the anatomical variations of dural venous sinuses in children with external hy... more PurposeTo evaluate the anatomical variations of dural venous sinuses in children with external hydrocephalus, proposing a radiological grading of progressive anatomic restriction to venous outflow based on brain phase-contrast magnetic resonance venography (PC-MRV); to evaluate the correlation between positional plagiocephaly and dural sinuses patency; and to compare these findings with a control group to ascertain the role of anatomical restriction to venous outflow in the pathophysiology of external hydrocephalus.MethodsBrain MRI and PC MRV were performed in 97 children (76 males, 21 females) diagnosed with external hydrocephalus at an average age of 8.22 months. Reduction of patency of the dural sinuses was graded as 1 (stenosis), 2 (complete stop) and 3 (complete agenesis) for each transverse/sigmoid sinus and sagittal sinus. Anatomical restriction was graded for each patient from 0 (symmetric anatomy of patent dural sinuses) through 6 (bilateral agenesis of both transverse sinu...

Journal of neurosurgery. Pediatrics, Jan 22, 2017

OBJECTIVE In the past, the outcome of surgical treatment for thalamic tumor was poor. These lesio... more OBJECTIVE In the past, the outcome of surgical treatment for thalamic tumor was poor. These lesions were often considered inoperable. However, contemporary microsurgical techniques, together with improvements in neuroimaging that enable accurate presurgical planning, allow resection to be accomplished in a safer way. METHODS The medical records, imaging studies, and operative and pathology reports obtained for pediatric patients who were treated for thalamic tumors at the authors' department were reviewed. Neuronavigation and intraoperative monitoring of motor and somatosensory evoked potentials were used. Preoperative tractography, which helped to identify internal capsule fibers, was very important in selecting the surgical strategy. Postoperatively, an MRI study performed within 24 hours was used to assess the extent of tumor resection as partial (≤ 90%), subtotal (> 90%), or gross total (no residual tumor). RESULTS Since 2002, 27 children with thalamic tumors have been tr...

Journal of neurosurgery. Pediatrics, Jan 13, 2017

OBJECTIVE Neuroendoscopic removal of intraventricular tumors is difficult and time consuming beca... more OBJECTIVE Neuroendoscopic removal of intraventricular tumors is difficult and time consuming because of the lack of an effective decompression system that can be used through the working channel of the endoscope. The authors report on the utilization of an endoscopic ultrasonic aspirator in the resection of intraventricular tumors. METHODS Twelve pediatric patients (10 male, 2 female), ages 1-15 years old, underwent surgery via a purely endoscopic approach using a Gaab rigid endoscope and endoscopic ultrasonic aspirator. Two patients presented with intraventricular metastases from high-grade tumors (medulloblastoma, atypical teratoid rhabdoid tumor), 2 with subependymal giant cell astrocytomas (associated with tuberous sclerosis), 2 with low-grade intraparaventricular tumors, 4 with suprasellar tumors (2 craniopharyngiomas and 2 optic pathway gliomas), and 2 with pineal tumors (1 immature teratoma, 1 pineal anlage tumor). Hydrocephalus was present in 5 cases. In all patients, the en...

Case Reports, 2011

The authors report a case of a thoracic epidural spinal lipomatosis causing severe neurological d... more The authors report a case of a thoracic epidural spinal lipomatosis causing severe neurological defi cits along the review of pertinent literature. The patient is a 56-year-old woman who presented with acute onset of severe paraparesis; she was investigated with cervical and thoracic MRI and then surgically managed because of an intraspinal mass compressing the cord. The operation consisted in the excision of the mass confi rmed to be a fi brolipoma by pathological analysis. The patient attained complete neurological recovery and at 18 months follow-up she reported a generalised well-being. Thoracic lipomas are rare lesions that presenting mostly with back pain; however, in rare instances they may cause progressive and/or abrupt neurological dysfunction. Appropriate imaging can help in the diagnosis and management of such cases.

Journal of Neurology, Neurosurgery & Psychiatry, 2007