The role of 18F-FDG PET/CT imaging in paediatric Langerhans disease: Case report.

Langerhans cell histiocytosis (LCH) is a haematological disorder, affecting single or multiple organs, characterized by abnormal proliferation of Langerhans cells in children. Accurate tumour delineation (number of lesions, organs involved) is crucial for staging/re-staging, and follow-up (response to therapy). Conventional imaging techniques (computed tomography (CT), magnetic resonance imaging (MRI)) have been employed for initial diagnosis, staging and assessment of response to therapy focusing on the healing effect therapeutic protocols have on the disease. In this case report, whole-body positron emission tomography/computed tomography (PET/CT) was shown either to provide information on the metabolic activity of histiocytes, or identify lesions otherwise asymptomatic. It is clear that PET/CT, combining anatomic and metabolic information, provides data for accurate staging, therapeutic protocol selection and assessment of response to therapy.

Posterior spinal decompression in adults with spinal cord injury without traumatic compromise of the spinal canal: what is the data?

Background: Spinal cord injury (SCI) can be caused by a variety of factors and its severity can range from a mild concussion to a complete severing of the spinal cord. Τreatment depends on the type and severity of injury, the patient's age and overall health. Reduction of dislocated or fractured vertebrae via closed manipulation or surgical procedures, fixation and removal of bony fragments and debris that compromise the spinal canal are indicated for decompression of the spinal cord and stabilization of the spine. However, when there is no obvious traumatic obstruction of spinal canal, the question arises as to whether laminectomy is needed to be performed to improve neurological outcome. Methods: A literature review covering all indexed studies published between 2013 and 2023 was performed using keywords to identify the patient group of interest (spinal cord injury, SCI, spinal cord trauma, cervical, thoracic, lumbar, thoracolumbar),central cord syndrome (CCS) and the interventions (laminectomy, laminoplasty, decompression, duroplasty). Results: This review includes6 observational studies investigating the outcome of posterior spinal decompression in patients suffering from spinal cord injury without traumatic spinal cord stenosis. Most patients already had degenerative stenosis. From a total of 202, 151 patients (74.7%) improved neurologically by at least one grade at ASIA scale, after being treated with either laminectomy, laminoplasty, duroplasty or a combination of these techniques. Conclusion: Early decompression in SCI patients remains a reasonable practice option and can be performed safely, but no specific evidence supports the use of laminectomy alone. There is emerging evidence that intended durotomy followed by extended meningoplasty may improve the neurological outcome in patients suffering from SCI when meta-traumatic edema is apparent. However, the lack of high-quality evidence and results support the need for further research.

Radiation-induced meningiomas (RIM) in adults: A single-centre retrospective experience.

Introduction: Radiotherapy of central nervous system (CNS) is treatment against many paediatric cancers, even if it is a well-recognized risk factor for meningioma formation. An increased risk of developing secondary brain tumors like radiation-induced meningiomas (RIM) is related to irradiated patients. Research question: This retrospective study aims to present RIM cases treated in a single tertiary-hospital in Greece and compare the results with international literature and cases of sporadic meningiomas. Materials and methods: A single-centre retrospective study of all patients diagnosed between January 2012 and September 2022 with RIM after having been irradiated in CNS for paediatric cancer was undertaken through hospital's electronic record and clinical notes, identifying baseline demographics and latency period. Results: Thirteen patients were identified with RIM diagnosis after receiving irradiation for Acute Lymphoblastic Leukaemia (69.2%), Premature Neuro-Ectodermal Tumour (23.1%), and Astrocytoma (7.7%). Median age at irradiation was 5 years old and 32 years old at RIM's presentation. The latent period from irradiation to meningioma diagnosis was 26.23 â€‹± â€‹5.96 years. After surgical excision, histopathologic results showed grade I meningiomas in 12 out of thirteen cases, while only one atypical meningioma was diagnosed. Conclusion: Patients who underwent CNS-radiotherapy in childhood for any condition have an increased risk of developing secondary brain tumors such as radiation-induced meningiomas. RIMs resemble sporadic meningiomas in symptomatology, location, treatment, and histologic grade. However, long-term follow-up and regular check-ups are recommended in irradiated patients due to short latency period from irradiation to RIM development, which means younger age patients than those with sporadic meningiomas cases.

In vivo magnetic resonance spectroscopy for the differential diagnosis of a cerebral mass in a boy with precocious puberty: a case report and review of the literature.

PURPOSE: To highlight the role of in vivo magnetic resonance spectroscopy (MRS) as a non-invasive tool that can clarify the etiology of sellar tumors by presenting the case of a boy with central precocious puberty (CPP) and to review the current literature. METHODS: A 4-year-old boy was admitted to our hospital due to repeated episodes of focal and gelastic seizures in the previous year. Clinical examination (testicular volume 4-5 ml bilaterally, penile length of 7.5 cm, and absence of axillary or pubic hair) and laboratory tests (FSH, LH, and testosterone) were indicative of CPP. The combination of gelastic seizures with CPP in a 4-year-old boy raised the suspicion of hypothalamic hamartoma (HH). Brain MRI revealed a lobular mass in the suprasellar-hypothalamic region. The differential diagnosis included glioma, HH, and craniopharyngioma. To further investigate the CNS mass, an in vivo brain MRS was performed. RESULTS: Οn conventional MRI, the mass demonstrated isointensity to gray matter on T1 weighted images but slight hyperintensity on T2-weighted images. It did not show restricted diffusion or contrast enhancement. On MRS, it showed reduced N-acetyl aspartate (NAA) and slightly elevated myoinositol (MI) compared with values in normal deep gray matter. The MRS spectrum, in combination with the conventional MRI findings, were consistent with the diagnosis of a HH. CONCLUSION: MRS is a state-of-the-art, non-invasive imaging technique that compares the chemical composition of normal tissue to that of abnormal regions by juxtaposing the frequency of measured metabolites. MRS, in combination with clinical evaluation and classic MRI, can provide identification of CNS masses, thus eliminating the need for an invasive biopsy.

Inferior Vena Cava agenesis presenting as deep vein thrombosis in an eight year-old girl.

Agenesis of vena cava inferior (AVCI) is a rare congenital malformation with a prevalence of 0.0005-1% in the general population. High level of suspicion is required in young patients with deep vein thrombosis (DVT), particularly bilateral. We present an 8-year-old girl with AVCI presenting as bilateral lower extremity DVT and a review of the literature in pediatric cases with AVCI and DVT.

Controversies in the Surgical Treatment of Chronic Subdural Hematoma: A Systematic Scoping Review.

Chronic subdural hematoma (cSDH) is one of the most common neurosurgical entities, especially in the elderly population. Diagnosis is usually established via a head computed tomography, while an increasing number of studies are investigating biomarkers to predict the natural history of cSDH, including progression and recurrence. Surgical evacuation remains the mainstay of treatment in the overwhelming majority of cases. Nevertheless, many controversies are associated with the nuances of surgical treatment. We performed a systematic review of the literature between 2010 and 2022, aiming to identify and address the issues in cSDH surgical management where consensus is lacking. The results show ambiguous data in regard to indication, the timing and type of surgery, the duration of drainage, concomitant membranectomy and the need for embolization of the middle meningeal artery. Other aspects of surgical treatment-such as the use of drainage and its location and number of burr holes-seem to have been adequately clarified: the drainage of hematoma is strongly recommended and the outcome is considered as independent of drainage location or the number of burr holes.

Primary Intraosseous Cavernous Hemangioma of the Cranium: A Systematic Review of the Literature.

Primary intraosseous cavernous hemangioma (PICH) is a rare, benign tumor of vascular origin, typically arising in the vertebral body. Its presence in the skull is exceedingly rare, with only a few cases being reported worldwide. We carried out the first systematic review of the literature, covering the epidemiology, clinical and imaging features, management, and prognosis of cranial PICH. The literature search revealed 51 studies with 77 patients; the mean age of the patients was 32.7 years with a female predominance of 1.4:1. The majority of cranial PICHs were located in the calvarium, primarily in the frontal and parietal regions, with only a few located in the skull base. The most common initial clinical manifestation was local growth or swelling, followed by a headache. Radiographically, PICHs represented osteolytic, intradiploic masses, which in many cases displayed trabeculations, leading to the so-called "honeycomb" or "starburst" pattern. After contrast administration, PICHs typically enhance. Tumor removal, with craniectomy or en bloc resection and subsequent skull reconstruction, was selected for calvarial PICHs, whereas a transsphenoidal approach, with only partial resection, was applied for clival/sella PICHs. Preoperative embolization, aiming to minimize intraoperative blood loss, was performed in the case of large tumors. At a mean follow-up of 39 months, no patient experienced tumor recurrence, even after subtotal resection. Owing to the benign nature of the tumor, maximal safe resection is recommended as the treatment of choice for patients with cranial PICH.

A rare case of a giant prolactinoma with atypical histological features: 5 years of follow-up.

BACKGROUND: Giant prolactinomas are rare in childhood and adolescence and represent a challenge in diagnosis and management. CASE PRESENTATION: A 15.7-year-old male adolescent presented with short stature and delayed puberty. On clinical examination, mild right central VII paresis, gait instability, decreased visual acuity, and impaired visual fields were noted. Investigations showed hyperprolactinemia (2209 ng/mL), secondary hypothyroidism, hypogonadotropic hypogonadism, and growth hormone deficiency. Imaging studies showed an enormous invasive skull base mass. Craniotomy was undertaken to debulk the tumor and perform biopsies. Histology revealed a very large atypical, prolactin-secreting pituitary macroadenoma, i.e., a giant prolactinoma. After commencing cabergoline treatment, prolactin concentrations decreased in 5 months and normalized 18 months later, while significant shrinkage of the tumor was observed. The diagnostic work-up for genetic syndromes often associated with sporadic macroadenomas was negative. CONCLUSION: Giant prolactinomas presenting with multiple pituitary hormone deficiencies in childhood or adolescence are rare and require prompt diagnosis and multidisciplinary management.

The Entity of Cerebellar Mutism Syndrome: A Narrative Review Centered on the Etiology, Diagnostics, Prevention, and Therapeutic Options.

Cerebellar mutism syndrome (CMS), also known as posterior fossa syndrome, is an entity that entails a constellation of signs and symptoms which are recorded in a limited number of pediatric patients who have been operated on mainly for tumors involving the posterior cranial fossa, and more precisely, the region of the vermis. Medulloblastoma seems to constitute the most commonly recognized pathological substrate, associated with this entity. The most prevalent constituents of this syndrome are noted to be a, often transient, although protracted, language impairment, emotional lability, along with cerebellar and brainstem dysfunction. Apart from that, a definite proportion of involved individuals are affected by irreversible neurological defects and long-lasting neurocognitive impairment. A bulk of literature and evidence based on clinical trials exist, which reflect the continuous effort of the scientific community to highlight all perspectives of this complex phenomenon. There are several circumstances that intervene in our effort to delineate the divergent parameters that constitute the spectrum of this syndrome. In summary, this is implicated by the fact that inconsistent nomenclature, poorly defined diagnostic criteria, and uncertainty regarding risk factors and etiology are all constituents of a non-well-investigated syndrome. Currently, a preliminary consensus exists about the identification of a group of diagnostic prerequisites that are managed as sine qua non, in our aim to document the diagnosis of CMS. These include language impairment and emotional lability, as proposed by the international Board of the Posterior Fossa Society in their consensus statement. It is common concept that midline tumor location, diagnosis of medulloblastoma, younger age at diagnosis, and preoperatively established language impairment should be accepted as the most determinant predisposing conditions for the establishment of this syndrome. A well-recognized pathophysiological explanation of CMS includes disruption of the cerebellar outflow tracts, the cerebellar nuclei, and their efferent projections through the superior cerebellar peduncle. Despite the relative advancement that is recorded regarding the diagnostic section of this disease, no corresponding encouraging results are reported, regarding the available treatment options. On the contrary, it is mainly targeted toward the symptomatic relief of the affected individuals. The basic tenet of our review is centered on the presentation of a report that is dedicated to the definition of CMS etiology, diagnosis, risk factors, clinical presentation, and clinical management. Apart from that, an effort is made that attempts to elucidate the paramount priorities of the scientific forum, which are directed toward the expansion our knowledge in the era of diagnostics, prevention, and therapeutic options for patients suffering from CM, or who are at risk for development of this syndrome.

MRI Characteristics of Pediatric Renal Tumors: A SIOP-RTSG Radiology Panel Delphi Study.

BACKGROUND: The SIOP-Renal Tumor Study Group (RTSG) does not advocate invasive procedures to determine histology before the start of therapy. This may induce misdiagnosis-based treatment initiation, but only for a relatively small percentage of approximately 10% of non-Wilms tumors (non-WTs). MRI could be useful for reducing misdiagnosis, but there is no global consensus on differentiating characteristics. PURPOSE: To identify MRI characteristics that may be used for discrimination of newly diagnosed pediatric renal tumors. STUDY TYPE: Consensus process using a Delphi method. POPULATION: Not applicable. FIELD STRENGTH/SEQUENCE: Abdominal MRI including T1- and T2-weighted imaging, contrast-enhanced MRI, and diffusion-weighted imaging at 1.5 or 3 T. ASSESSMENT: Twenty-three radiologists from the SIOP-RTSG radiology panel with ≥5 years of experience in MRI of pediatric renal tumors and/or who had assessed ≥50 MRI scans of pediatric renal tumors in the past 5 years identified potentially discriminatory characteristics in the first questionnaire. These characteristics were scored in the subsequent second round, consisting of 5-point Likert scales, ranking- and multiple choice questions. STATISTICAL TESTS: The cut-off value for consensus and agreement among the majority was ≥75% and ≥60%, respectively, with a median of ≥4 on the Likert scale. RESULTS: Consensus on specific characteristics mainly concerned the discrimination between WTs and non-WTs, and WTs and nephrogenic rest(s) (NR)/nephroblastomatosis. The presence of bilateral lesions (75.0%) and NR/nephroblastomatosis (65.0%) were MRI characteristics indicated as specific for the diagnosis of a WT, and 91.3% of the participants agreed that MRI is useful to distinguish NR/nephroblastomatosis from WT. Furthermore, all participants agreed that age influenced their prediction in the discrimination of pediatric renal tumors. DATA CONCLUSION: Although the discrimination of pediatric renal tumors based on MRI remains challenging, this study identified some specific characteristics for tumor subtypes, based on the shared opinion of experts. These results may guide future validation studies and innovative efforts. LEVEL OF EVIDENCE: 3 Technical Efficacy Stage: 3.

Low- and High-Attenuation Lung Volume in Quantitative Chest CT in Children without Lung Disease.

In contrast to studies of adults with emphysema, application of fixed thresholds to determine low- and high-attenuation areas (air-trapping and parenchymal lung disease) in pediatric quantitative chest CT is problematic. We aimed to assess age effects on: (i) mean lung attenuation (full inspiration); and (ii) low and high attenuation thresholds (LAT and HAT) defined as mean attenuation and 1 SD below and above mean, respectively. Chest CTs from children aged 6-17 years without abnormalities were retrieved, and histograms of attenuation coefficients were analyzed. Eighty examinations were included. Inverse functions described relationships between age and mean lung attenuation, LAT or HAT (p < 0.0001). Predicted value for LAT decreased from -846 HU in 6-year-old to -950 HU in 13- to 17-year-old subjects (cut-off value for assessing emphysema in adults). %TLCCT with low attenuation correlated with age (rs = -0.31; p = 0.005) and was <5% for 9-17-year-old subjects. Inverse associations were demonstrated between: (i) %TLCCT with high attenuation and age (r2 = 0.49; p < 0.0001); (ii) %TLCCT with low attenuation and TLCCT (r2 = 0.47; p < 0.0001); (iii) %TLCCT with high attenuation and TLCCT (r2 = 0.76; p < 0.0001). In conclusion, quantitative analysis of chest CTs from children without lung disease can be used to define age-specific LAT and HAT for evaluation of pediatric lung disease severity.

Lung hyperinflation quantitated by chest CT in children with bronchiolitis obliterans syndrome following allogeneic hematopoietic cell transplantation.

OBJECTIVES: Bronchiolitis obliterans syndrome (BOS) diagnosis in children following allogeneic hematopoietic stem cell transplantation (post-HSCT) is based on detection of airway obstruction on spirometry and air-trapping, small airway thickening or bronchiectasis on chest CT. We assessed the relationship between spirometry indices and low-attenuation lung volume at total lung capacity (TLC) on CT. METHODS: Data of children post-HSCT with and without BOS were analyzed. An age-specific, low-attenuation threshold (LAT) was defined as average of (mean-1SD) lung parenchyma attenuation of 5 control subjects without lung disease matched to each age subgroup of post-HSCT patients. % CT lung volume at TLC with attenuation values

Two novel variants in the TCF12 gene identified in cases with craniosynostosis.

Craniosynostosis (CS) is a condition where one or more of the cranial sutures fuse prematurely. It affects almost 1/2,000 newborns, and includes both syndromic and non-syndromic cases. To date, variants in over 70 different genes have been associated with the expression of CS. In this report, we describe two unrelated cases that presented with coronal CS. TCF12 sequencing analysis revealed novel frameshift nucleotide variants, which were evaluated as pathogenic according to the current guidelines for interpreting sequence variants. These findings expand the spectrum of TCF12 gene variants related with CS and support the importance of screening for such variants in patients with coronal synostosis.

An 11-Year-Old Male With Vertebral Osteomyelitis and a Paraspinal Abscess.

We report the case of an 11-year-old immunocompetent patient presenting with a 2-week history of upper back pain, diagnosed with thoracic vertebral osteomyelitis and a paraspinal abscess caused by Bartonella henselae. He was treated with gentamicin and doxycycline followed by oral rifampicin and doxycycline with favorable outcome.

Cantú Syndrome Associated with Ovarian Agenesis.

Cantú syndrome is a very rare autosomal dominant disorder characterized by generalized congenital hypertrichosis, neonatal macrosomia, coarse face, cardiomegaly, and occasionally, skeletal abnormalities. The syndrome has been attributed to mutated ABCC9 or KCNJ8 genes. We present a 4-year-old girl with developmental delay, distinctive coarse facial features, and generalized hypertrichosis apparent since birth. The investigation revealed absent ovaries and a hypoplastic uterus which have not been previously described. Conventional karyotyping was normal. DNA sequencing analysis of the ABCC9 gene was performed, and a heterozygous point mutation c.3460C>T (p.Arg1154Trp) was revealed. This missense gain-of-function mutation was located in exon 27 of the ABCC9 gene and has been reported in patients with the full phenotype of Cantú syndrome. However, the absence of the ovaries could be an expansion of the phenotype and not attributed to mutations in other genes important for ovarian development. Unfortunately, it has not been proven so far if the ABCC9 gene is expressed in the ovarian tissue.

PET/MRI in the Upper Abdomen.

PET/CT and contrast-enhanced CT have been considered the standard imaging modalities in the diagnosis of upper abdominal malignancies. PET/CT can be challenging in soft tissue delineation, especially in the upper abdomen. The recent development of PET/MRI for clinical use has shown promising results, with MRI providing superior soft tissue contrast and PET providing biochemical and metabolic information. Combined PET/MRI may allow simultaneous benefit in the assessment of patients in a single session, improving patient journey, lesion detectability, diagnostic performance, and prognostic information. PET/MRI also provides the ability for tissue characterization and reduces radiation exposure. The most powerful driver is PET, and the newer PET radiopharmaceuticals with the addition of dynamic contrast-enhanced MRI, diffusion-weighted imaging, and MR spectroscopy may increase the sensitivity and specificity of disease recognition and have clinical effect. In this article, we review the advantages and limitations of PET/MRI in upper abdominal malignancies.

Incidental Neurofibroma on 18F-Fluorocholine PET/MR.

Neurofibromas are benign peripheral nerve sheath tumors. We described a unique case of recurrent prostate cancer with coexisting neurofibroma diagnosed on F-fluorocholine PET/MRI.