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Aim Punctate white matter lesions (PWML) are frequently detected in preterm infants undergoing brain MRI at term equivalent age (TEA). The aims of this study were to assess prevalence of PWML and to identify risk factors for PWML in VLBW infants. Methods Brain MRI scans obtained at TEA and clinical charts of a consecutive sample of very low birth weight (VLBW) infants admitted to Gaslini Children's Hospital NICU between 2012 and 2016 were retrospectively analyzed. MRI protocol included Susceptibility Weighted Imaging (SWI) sequence in order to identify hemosiderin depositions as a result of previous microbleeds. PWML were classified according to their number (≤6 lesions and >6 lesions) and signal characteristics (SWI+ lesions and SWI− lesions). Univariate and multivariable analysis were performed in order to identify risk factors for PWML (as a whole) and for each subgroup of PWML. Results 321 VLBW infants were included. PWML were identified in 61 subjects (19%), 26 of whom (8% of the study population) had more than 6 lesions. Risk factors for PWML (as a whole) were higher birth weight (OR = 1.001; p = 0.04) and absent or incomplete antenatal steroid course (OR = 2.13; p = 0.02). Risk factors for >6 PWML were need for intubation (OR = 11.9; p = 0.003) and higher Apgar score at 5 min (OR = 1.8; p = 0.02). Presence of GMH-IVH was the only identified risk factor for SWI + lesions. Conclusions Our results confirm the high prevalence of PWML among VLBW infants. Differentiation between SWI+ and SWI− lesions is crucial as they have different risk factors and may likely represent two different entities.

Sinus pericranii (SP) is a rare, benign, extradural venous anomaly whose extracranial connection consists in an enlarged subgaleal drainage composed of a network of thin-walled veins that form a varix on the external table of the skull. In the present series of three patients we present three variantesof SP which have never been described, characterized by an extensive diploic erosion causing a "karstic" effect.A systematic review was conducted in compliance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guideline. A comprehensive search for relevant articles was performed on PubMed from 1992 to 2022 using the following search words: "sinus pericranii".The search produced 77 articles with 137 patients. In all the cases analysed, there were not reported any patients with extensive diploic erosion, namely "karstic" variants. So, the authors present clinical history, neuroimages, treatment strategies and outcome of 3 patients with a "karstic" SP with the aim to describe this clinicradiological entity.In this study, our group identified a peculiar variant of SP characterized by bony involvement with extensive diploic "karstic" erosion of diploe, with possible tendency to enlarge during time.

Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by fragmented and mineralized elastic fibers in the mid-dermis of the skin, eye, digestive tract and cardiovascular system. Clinical presentation includes typical skin lesions, ocular angioid streaks, and multisystem vasculopathy. The age of onset varies considerably from infancy to old age, but the diagnosis is usually made in young adults due to frequent absence of pathognomonic skin and ocular manifestations in early childhood. We report two children with PXE presenting with isolated multisystem vasculopathy and early-onset stroke. In the first patient, diagnosis was delayed until typical dermatologic alterations appeared; in the second patient, next-generation sequencing (NGS) study led to early diagnosis and specific follow-up, underlying the crucial role in idiopathic pediatric stroke of early genetic testing using NGS-based panels.

Idiopathic scoliosis (IS) is an abnormality of the vertebral column with a spine curvature of at least 10 degrees. It is the most common spinal deformity in children with a prevalence of 2%-3%, and its aetiology is unknown. Genetic factors are known to play a role and a number of linkage analyses showed associations of various loci. Here we describe a new case of a de novo interstitial deletion 8q11.21q11.2 disrupting SNTG1 gene, identified by array-CGH in a girl with cognitive impairment and a scoliosis that 'appears' like to IS. SNTG1 encodes γ-1 Syntrophin protein that is part of the dystrophin associated protein complex and interacts directly with the C-terminal of dystrophin. Its expression is restricted to neurons and particularly in those areas of the brain that have been suggested to affect postural control. The involvement of SNTG1 gene in IS was already been reported in a family with a breakpoint between exons 10 and 11. Mutational analysis of SNTG1 exons in 152 sporadic IS patients had revealed changes in three patients. In conclusion, our data add a further line of evidence suggesting SNTG1 could represent an interesting candidate for its involvement in scoliosis.

Background PHACE syndrome (Posterior fossa malformations, large cervicofacial infantile Hemangiomas, Arterial anomalies, aortic coarctation and Cardiac abnormalities, and Eye abnormalities) is a neurocutaneous disorder including posterior fossa malformations, hemangiomas, arterial lesions, cardiac defects, and eye abnormalities. PHACE arteriopathies may be progressive and recently have been categorized based on the risk of acute ischemic stroke, increasing attention to the potentially devastating consequences of cerebrovascular complications in this syndrome. In contrast, the natural history of arteriopathy in PHACE syndrome remains poorly understood. At the moment, there are no established surgical guidelines for high-risk vasculopathies, including quasi-moyamoya, in this syndrome. Case description We described the clinicoradiologic features of a small series of 6 patients with PHACE syndrome and quasi-moyamoya (5 female, age range 4 months to 12 years), focusing on the clinical course and surgical outcome of 3 children who were treated with encephaloduroarteriosynangiosis and encephalomyosynangiosis. In addition, we reviewed the radiologic, clinical, and surgical aspects of moyamoya vasculopathy in PHACE syndrome, providing information on 15 additional published cases. Conclusions Although the natural history of arteriopathy in PHACE syndrome is poorly understood, patients with high-risk vasculopathies, such as quasi-moyamoya disease, may benefit of revascularization by using encephaloduroarteriosynangiosis and encephalomyosynangiosis

Pediatric and perinatal stroke can present as an early symptom in undiagnosed syndromes characterized by simple Mendelian inheritance. In order to diagnose those patients affected with a monogenic disorder in which an arterial cerebrovascular event or arteriopathy may have preceded any other specific symptom, we aimed to establish and validate a targeted gene panel, and to determine its diagnostic yield and clinical utility. To this end, thirty-eight patients were selected with heterogeneous cryptogenic stroke phenotypes, mostly including multiple and recurrent ischemic or hemorrhagic arterial strokes and porencephalies, variably associated with calcifications, intracranial or systemic steno-occlusive arteriopathies, positive family history, and syndromic conditions. Clinical and neuroradiological data were collected for every patient enrolled in the study, and DNA samples were tested by means of a customized gene panel including 15 genes associated with known genetic diseases related to pediatric stroke. In four patients (10.5%) the analyses unraveled pathogenetic variants in ABCC6 and COL4A1 genes, leading to a definite genetic diagnosis with a great beneficial impact on patients management, while results were null in the remaining patients. These findings suggest a high complexity and variability of the included stroke phenotypes, that could not be fully accounted for by the genes tested in the present study. A wider gene panel or an unbiased genomic approach may be better suited and advisable to explain a greater proportion of pediatric and perinatal stroke events.

Atypical teratoid/rhabdoid tumor (AT/RT) of the central nervous system and malignant rhabdoid tumor of the kidney (MRTK) may present with different responses to chemotherapy and outcomes. We describe the case of an infant with multifocal rhabdoid tumor with different behavior and response to treatment, depending on the anatomic site.

Infections of the brain in the postnatal period differ from those in older children as a result of a combination of distinct epidemiologic factors in general, and immaturity of neonatal brain and immunologic host response in particular. It has been recognized that clinical and neurologic signs are often nonspecific, sometimes scarce, and seldom correlate with the extent of neuroimaging findings, thus warranting an early MR imaging examination in the course of the disease, enabling rapid therapy institution and better clinical outcome. This article reviews most of postnatal pathogen agents involved in neonatal brain infections, related physiopathology, and neuroimaging findings.

Background A lumbar lipomyelocele is a closed spinal dysraphism that can cause tethered cord syndrome. Between 5% and 15% of spinal dysraphism surgery cases are burdened with complications, the most common being wound infections or dehiscence and cerebrospinal fluid leak. Acute communicating hydrocephalus has never been described as a complication of this type of surgery. Case Description A 6-year-old girl who had undergone several surgeries in another institution for lumbar lipomyeloschisis came to our attention for a second opinion about the management of her spinal dysraphism. During the visit, she experienced sudden loss of consciousness. An emergent computed tomography scan revealed an acute communicating hydrocephalus. External ventricular drainage was performed with quick recovery of consciousness. Further craniospinal magnetic resonance imaging revealed small droplets of fat in the intracranial subarachnoid spaces and ventricular system, suggestive of rupture of the lipoma with consequent aseptic meningitis. Conclusion This is the first description of acute communicating hydrocephalus as a complication of lipomyelocele surgery. We discuss the possible pathophysiologic mechanisms leading to cerebrospinal fluid dynamics alteration.