Imaging of pediatric skull lytic lesions: A review.

Skull lesions in pediatric population are common findings on imaging and sometimes with heterogeneous manifestations, constituting a diagnostic challenge. Some lesions can be misinterpreted for their aggressiveness, as with larger lesions eroding cortical bone, containing soft tissue components, leading to excessive and, in some cases, invasive inappropriate etiological investigation. In this review, we present multiple several conditions that may present as skull lesions or pseudolesions, organized by groups (anatomic variants, congenital and development disorders, traumatic injuries, vascular issues, infectious conditions, and tumoral processes). Anatomic variants are common imaging findings that must be recognized by the neuroradiologist. Congenital malformations are rare conditions, such as aplasia cutis congenita and sinus pericranii, usually seen at earlier ages, the majority of which are benign findings. In case of trauma, cephalohematoma, growing skull fractures, and posttraumatic lytic lesions should be considered. Osteomyelitis tends to be locally aggressive and may mimic malignancy, in which cases, the clinical history can be the key to diagnosis. Vascular (sickle cell disease) and tumoral (aneurismal bone cyst, eosinophilic granuloma, metastases) lesions are relatively rare lesions but should be considered in the differential diagnosis, in the presence of certain imaging findings. The main difficulty is the differentiation between the benign and malignant nature; therefore, the main objective of this pictorial essay is to review the main skull lytic lesions found in pediatric age, describing the main findings in different imaging modalities (CT and MRI), allowing the neuroradiologist greater confidence in establishing the differential diagnosis, through a systematic and simple characterization of the lesions.

Endovascular Treatment of Brain Arteriovenous Malformations in Pediatric Patients: A Single Center Experience and Review of the Literature.

BACKGROUND: Brain arteriovenous malformations (bAVMs) are abnormal vascular connections with direct arteriovenous shunts, generally symptomatic in the adult life. However, a small number of bAVMs may manifest in pediatric patients, with higher bleeding risk and mortality rates when compared to adults. The purpose of this study is to review our experience with endovascular treatment of bAVMs in pediatric patients. METHODS: This is a retrospective analysis of all bAVMs in pediatric patients (0-18 years) who underwent diagnostic digital subtraction angiography (DSA) at our institution from January 2010 to June 2021. RESULTS: Twenty-six patients met the inclusion criteria, of which 12 underwent endovascular treatment. Treated patients had a mean age of 10.25 years and 58% were females. Complete angiographic exclusion was achieved in five (42%) patients with endovascular treatment. Five patients with residual bAVM after embolization needed adjuvant therapy with surgery (n = 3) or stereotactic radiosurgery (SRS; n = 2). Two patients are still undergoing embolization sessions. Procedure-related complications occurred in two patients (17%) and included small vessel perforation and an occipital ischemic stroke. Two patients showed bAVM recurrence on follow-up (17%) and subsequently underwent SRS (n = 1) or surgery (n = 1), both resulting in complete bAVM exclusion. All patients had a modified Rankin scale (mRS) score of 0 to 2 on follow-up. CONCLUSION: Our experience supports the effectiveness and safety of endovascular treatment of bAVM in selected pediatric patients. A multidisciplinary approach combining surgery and SRS is warranted to achieve higher complete bAVM obliteration rates. Long-term follow-up is important as these lesions may show recurrence over time, especially in the pediatric population.

Imaging of intraspinal cystic lesions: A review.

Several distinct conditions present as cystic or pseudocystic lesions within the spinal canal. Some of the most common spinal cystic lesions include spinal meningeal cysts, juxtafacet cysts, dermoid/epidermoid cysts, nerve sheath tumors, and syringohydromyelia. Clinical presentation is usually nonspecific and imaging characteristics are frequently overlapping, which may pose a challenging presurgical diagnosis. We provide a pictorial review of cystic intraspinal lesions and discuss the main imaging features that can aid the neuroradiologist in the differential diagnosis. First, we propose a categorization of the lesions according to their location as extradural, intradural extramedullary, and intramedullary. This is a crucial initial step in the diagnostic workup and surgical planning. Second, for each of these locations, we organize the lesions according to their etiology: congenital and developmental disorders, degenerative disorders, traumatic or postsurgical collections, infectious conditions, neoplastic lesions, and other miscellaneous disorders. Finally, we summarize the clinical highlights and MR features that provide important insights for the differential diagnosis. MR is the technique of choice in presurgical evaluation and postsurgery follow-up. It provides accurate lesion localization and characterization and, most of the times, it will allow a confident differential diagnosis. High-resolution three-dimensional T2-weighted sequences and diffusion-weighted imaging can provide important hints in specific cases. Signal correlation with T1-weighted and fat-saturated sequences allows to differentiate true cystic lesions from hemorrhage or fat tissue.

Subpial Hemorrhage : A Distinctive Neonatal Stroke Pattern.

BACKGROUND AND PURPOSE: Subpial hemorrhage is a rare form of neonatal stroke, still poorly understood. The aim of this study was to characterize a cohort of term and preterm neonates with subpial hemorrhages and contribute to a better knowledge of this condition. MATERIAL AND METHODS: Clinical records and magnetic resonance (MR) imaging data of all neonates with subpial hemorrhage followed at a pediatric hospital between 2010 and 2020 were retrospectively reviewed. RESULTS: A total of 10 patients were included in the analysis, 40% of whom were term neonates. Operative vaginal delivery was registered in 30%. Temporal was the most common location of subpial hemorrhage (70%), and all patients displayed underlying brain infarction. A characteristic yin-yang pattern was present in 90% of the study cohort, and ingurgitation of medullary veins on susceptibility weighted imaging in 80%. Cerebellar microbleeds were observed in 60% of neonates, both term and preterm. When available, MR angiography and venography were unremarkable. Patients' clinical outcome was variable, with early prematurity not associated to worse outcomes. CONCLUSION: Subpial hemorrhage has a distinctive MR pattern, with underlying parenchymal venous infarction, and can occur in term and preterm neonates. This study results suggest an association between subpial hemorrhage and cerebellar microbleeds but further studies are required to confirm it and better understand the pathophysiology of subpial hemorrhage.

Bone and joint tuberculosis in paediatrics: a 13-year retrospective study.

Introduction. Bone and joint tuberculosis (BJTB) is rare in developed countries, particularly in the paediatric population.Hypothesis/Gap Statement. The clinical features and sequelae of paediatric BJTB in Europe are not well characterized and should be assessed to achieve a better approach.Aim. To assess the management and outcomes of paediatric BJTB.Methodology. Longitudinal observational study of all paediatric patients (0-17 years old) diagnosed with BJTB between 2008 to 2020 in a tertiary-care hospital.Results. We identified 18 patients with BJTB, with a median age of 10 years (IQR 6-14.8), 66.7 % male. Most (72 %) were diagnosed after 2015 and were foreign-born (88.9 %), mainly from Portuguese-speaking African countries, and none had HIV. The most common symptoms were pain (77.8 %), fever (50 %) and bone deformity (44.4 %). Spinal TB (STB) affected 13 (72.2 %) and extra-spinal TB (ESTB) 9 (50 %) patients, and 4 (27.7 %) had both conditions. Diagnostic positive procedures included positive nucleic acid amplification technique (NAAT) (44.4 %), Mycobacterium tuberculosis isolation (44.4 %) and compatible histology (33.3 %). All completed antituberculous drugs for a median of 12 months (IQR 12-13) and nine (50 %) had surgery. Overall, acute complications occurred in 16 (88.9 %) patients - 11/13 (84.6 %) with STB and 5/5 (100 %) with ESTB - and included abscesses, spinal compression, spine deformity and pathological fractures. Sequelae were still present at the 12-month follow-up in seven cases (46.7 %), and were more common in foreign-born patients sent to Portugal to receive medical treatment (66.7 vs 20 %).Conclusions. Paediatric BJTB is difficult to diagnose and has high morbidity, requiring long-term follow-up. Over the last decade, foreign-born TB seems to be increasing, with still longer treatment courses and more acute complications and sequelae.

Periodontoid Pseudotumor in Tuberous Sclerosis Associated With Neck Diffuse Lipomatosis.

Tuberous sclerosis (TS) is a genetic multisystem disorder associated with the development of benign tumors in many organs. Diffuse lipomatosis, which represents the overgrowth of fatty tissue in one part of the body, is a very rare finding reported in patients with tuberous sclerosis. We describe the case of a patient with diffuse lipomatosis in the right scapular, posterior cervical and perivertebral regions, associated with a space-occupying lesion adjacent to the odontoid process of C2 that appeared to be a pseudotumor, and discuss possible relation between these entities.

Imaging of pediatric nasal masses: A review.

Several conditions may present as nasal masses in pediatric age, including congenital and developmental disorders, inflammatory and infectious conditions, neoplastic and neoplastic-like lesions, and other miscellaneous disorders. A confident presurgical diagnosis can be challenging and imaging is often key in the management of these lesions. We provide a pictorial review of pediatric nasal masses and discuss a location-based approach to the diagnosis of these lesions on imaging studies. Acquaintance with the most common pathologies and awareness for its characteristic imaging features can aid the physician in the differential diagnosis. Location and extension of the lesion can be particularly helpful. Midline masses raise suspicion for developmental nasal midline lesions, including frontoethmoidal cephalocele, dermoid/epidermoid cyst, and neuroglial heterotopia. In case of trauma, nasal septum hematoma/abscess should be considered. Developmental or odontogenic cystic lesions and osseous neoplasms and neoplasm-like lesions can originate from the maxilla and palate. Although most nasal tumors show overlapping imaging characteristics, some have suggestive features, such as nasopharyngeal angiofibroma and esthesioneuroblastoma. Malignant tumors tend to be locally aggressive, demonstrating invasive features, bony erosion, intermediate signal on T2-weighted images, and restricted diffusion on diffusion-weighted imaging. In certain cases, a definite diagnosis can only be made histologically. Nonetheless, detailed characterization of the lesion is crucial prior to invasive procedures in order to avoid complications.

Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders.

Congenital cranial dysinnervation disorders (CCDDs) are a heterogeneous group of neurodevelopmental phenotypes caused by a primary disturbance of innervation due to deficient, absent, or misguided cranial nerves. Although some CCDDs genes are known, several clinical phenotypes and their aetiologies remain to be elucidated. We describe a 12-year-old boy with hypotonia, developmental delay, sensorineural hearing loss, and keratoconjunctivitis due to lack of corneal reflex. He had a long expressionless face, severe oromotor dysfunction, bilateral agenesis/severe hypoplasia of the VIII nerve with marked atresia of the internal auditory canals and cochlear labyrinth malformation. Trio-exome sequencing identified a homozygous loss of function variant in the NEUROG1 gene (NM_006161.2: c.202G > T, p.Glu68*). NEUROG1 is considered a causal candidate for CCDDs based on (i) the previous report of a patient with a homozygous gene deletion and developmental delay, deafness due to absent bilateral VIII nerves, and severe oromotor dysfunction; (ii) a second patient with a homozygous NEUROG1 missense variant and corneal opacity, absent corneal reflex and intellectual disability; and (iii) the knockout mouse model phenotype which highly resembles the disorder observed in humans. Our findings support the growing compelling evidence that loss of NEUROG1 leads to a very distinctive disorder of cranial nerves development.