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OBJECTIVE: To investigate the Italian experience on the surgical and radiosurgical treatment of drug-resistant epilepsy due to hypothalamic hamartoma (HH) in the period 2011-2021 in six Italian epilepsy surgery centers, and to compare safety and efficacy profiles of the different techniques. METHODS: We collected pseudo-anonymized patient's data with at least 12 months of follow-up. Surgical outcome was defined according to Engel classification of seizure outcome. Univariate analysis was performed to assess the risk of post-operative seizures, categorized in dichotomous variable as favorable and unfavorable; explanatory variables were considered. Mann-Whitney or Chi-squared test were used to assess the presence of an association between variables (p < 0.05). RESULTS: Full presurgical and postoperative data about 42 patients from 6 epilepsy surgery centers were gathered. Engel class I was reached in the 65.8% and 66.6% of patients with gelastic and non-gelastic seizures, respectively. Other than daily non-gelastic seizures were associated with seizure freedom (p = 0.01), and the radiological type presented a trend toward significance (p = 0.12). SIGNIFICANCE: Endoscopic disconnection and laser interstitial thermal therapy are effective in the treatment of HH-related epilepsy, with a tolerable safety profile. Both gelastic and non-gelastic seizures can be treated, also in patients with a long history of seizures. PLAIN LANGUAGE SUMMARY: This study collected data about 42 patients with HH-related epilepsies. Endoscopic disconnection and laser therapy are both effective and safe in the treatment of hypothalamic hamartoma-related epilepsies.
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Hamartoma , Enfermedades Hipotalámicas , Radiocirugia , Humanos , Hamartoma/cirugía , Enfermedades Hipotalámicas/cirugía , Radiocirugia/métodos , Italia , Femenino , Masculino , Niño , Preescolar , Adolescente , Epilepsia Refractaria/cirugía , Resultado del Tratamiento , Adulto , Lactante , Adulto Joven , Estudios Retrospectivos , Procedimientos Neuroquirúrgicos/métodosRESUMEN
OBJECTIVE: The aims of this study were to 1) assess and quantify white matter (WM) microstructural characteristics derived from diffusion tensor imaging (DTI) in children with cerebral palsy (CP) prior to selective dorsal rhizotomy (SDR), and 2) investigate potential associations between WM diffusion properties and gross motor function and spasticity in children with spastic CP who underwent SDR. METHODS: This study is a multisite study based on DT images acquired prior to SDR as well as postoperative outcome data. DTI data collected from two sites were harmonized using the ComBat approach to minimize intersite scanner difference. The DTI abnormalities between children with spastic CP and controls were analyzed and correlated with the severity of impaired mobility based on the Gross Motor Function Classification System (GMFCS). The improvement in gross motor function and spasticity after SDR surgery was assessed utilizing the Gross Motor Function Measure-66 (GMFM-66), the Modified Tardieu Scale (MTS), and the modified Ashworth scale (MAS). Alterations in these outcome measures were quantified in association with DTI abnormalities. RESULTS: Significant DTI alterations, including lower fractional anisotropy (FA) in the genu of the corpus callosum (gCC) and higher mean diffusivity (MD) in the gCC and posterior limb of the internal capsule (PLIC), were found in children in the SDR group when compared with the age-matched control group (all p < 0.05). Greater DTI alterations (FA in gCC and MD in gCC and PLIC) were associated with lower mobility levels as determined based on GMFCS level (p < 0.05). The pre- to post-SDR improvement in motor function based on GMFM-66 was statistically significant (p = 0.006 and 0.002 at 6-month and 12-month follow-ups, respectively). The SDR efficacy was also identified as improving spasticity in lower-extremity muscle groups assessed with the MTS and MAS. Partial correlation analysis presented a significant association between pre- to post-SDR MTS alteration and DTI abnormalities. CONCLUSIONS: The findings in the present study provided initial quantitative evidence to establish the WM microstructural characteristics in children with spastic CP prior to SDR surgery. The study generated data for the association between baseline DTI characteristics and mobility in children with CP prior to SDR surgery. The study also demonstrated SDR efficacy in improving motor function and spasticity based on the GMFM-66, MTS, and MAS, respectively, in association with DTI data.
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Early extubation is considered to be beneficial for pre-term neonates. On the other hand, premature extubation can cause lung derecruitment, compromised gas exchange, and need for reintubation, which may be associated with severe brain injury caused by sudden cerebral blood flow changes. We used near infrared spectroscopy (NIRS) to investigate changes in cerebral oxygenation (rScO2) and fractional tissue oxygen extraction (+) after extubation in pre-term infants. This is a single-center retrospective study of NIRS data at extubation time of all consecutive pre-term neonates born at our institution over a 1-year period. Comparison between subgroups was performed. Nineteen patients were included; average gestational age (GA) was 29.4 weeks. No significant change was noted in rScO2 and cFTOE after extubation in the whole population. GA and germinal matrix hemorrhage (GMH)-intraventricular hemorrhage (IVH) showed a significant change in rScO2 and cFTOE after extubation. A significant increase in cFTOE was noted in patients with previous GMH-IVH (+0.040; p = 0.05). To conclude, extubation per se was not associated with significant change in cerebral oxygenation and perfusion. Patients with a diagnosed GMH-IVH showed an increase in cFTOE, suggesting perturbation in cerebral perfusion suggesting further understanding during this challenging phenomenon. Larger studies are required to corroborate our findings.
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PURPOSE: To validate a semiautomated method for segmenting vein of Galen aneurysmal malformations (VGAM) and to assess the relationship between VGAM volume and other angioarchitectural features, cardiological findings, and outcomes. METHODS: In this retrospective study, we selected all subjects with VGAM admitted to the Gaslini Children's Hospital between 2009 and 2022. Clinical data were retrieved from electronic charts. We compared 3D-Slicer segmented VGAM volumes obtained by two independent observers using phase-contrast MR venography to those obtained with manual measurements performed on T2-weighted images. The relationship between VGAM volumes and clinical and neuroimaging features was then explored. RESULTS: Forty-three subjects with VGAM (22 males, mean age 6.56 days) were included in the study. Manual and semiautomated VGAM volumes were well correlated for both readers (r = 0.86 and 0.82, respectively). Regarding reproducibility, the inter-rater interclass correlation coefficients were 0.885 for the manual method and 0.992 for the semiautomated method (p < 0.001). The standard error for repeated measures was lower for the semiautomated method (0.04 versus 0.40 of manual method). Higher VGAM volume was associated with superior sagittal sinus narrowing, jugular bulb stenosis, and aqueductal stenosis (p < 0.05). A weak correlation was found between VGAM volume and straight sinus dilatation (r = 0.331) and superior sagittal sinus index (r = - 0.325). No significant associations were found with cardiac findings, post-embolization complications, and outcome (p > 0.05). CONCLUSIONS: Semiautomated VGAM volumetry is feasible and reliable with improved reproducibility compared to the manual method. VGAM volume is not a prognostic factor for clinical outcome, but it is related to other venous findings with potential hemodynamic effects.
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Angiografía por Resonancia Magnética , Malformaciones de la Vena de Galeno , Humanos , Masculino , Femenino , Estudios Retrospectivos , Malformaciones de la Vena de Galeno/diagnóstico por imagen , Angiografía por Resonancia Magnética/métodos , Reproducibilidad de los Resultados , Recién Nacido , Lactante , Imagenología Tridimensional/métodos , Venas Cerebrales/diagnóstico por imagen , Venas Cerebrales/anomalíasRESUMEN
Brain magnetic resonance imaging (MRI) is a noninvasive imaging modality that utilizes powerful magnets and radio waves to generate detailed images of the brain, making it a valuable tool for investigating malformations of cortical development (MCD). Various MRI techniques, including 3D T1-weighted, multiplanar thin-sliced T2-weighted, and 3D fluid-attenuated inversion recovery (FLAIR) sequences, can provide high-resolution images with excellent spatial and contrast resolution, allowing for a detailed visualization of cortical anatomy and abnormalities. Almost all MCD can be detected and characterized using MRI. Advanced techniques, such as arterial spin labeling MR perfusion, diffusion tensor imaging (DTI), and functional MRI (fMRI), may be used to improve the detection rate of these malformations and to plan surgery in case of drug-resistant epilepsy. However, there are also limitations related to high cost, relatively low availability, need for sedation or anesthesia, and limited sensitivity for detecting subtle focal cortical malformations. Despite these limitations, brain MRI plays a crucial role in the investigation of MCD, providing valuable information for diagnosis, treatment planning, and patient management.
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Anestesia , Malformaciones del Desarrollo Cortical , Humanos , Imagen de Difusión Tensora , Imagen por Resonancia Magnética , Análisis de Datos , Malformaciones del Desarrollo Cortical/diagnóstico por imagenRESUMEN
Parechovirus (HpEV) and Enterovirus (EV) infections in children mostly have a mild course but are particularly fearsome in newborns in whom they may cause aseptic meningitis, encephalitis, and myocarditis. Our study aimed to describe the clinical presentations and peculiarities of CNS infection by HpEV and EV in neonates. This is a single-center retrospective study at Istituto Gaslini, Genoa, Italy. Infants aged ≤ 30 days with a CSF RTq-PCR positive for EV or HpEV from January 1, 2022, to December 1, 2023, were enrolled. Each patient's record included demographic data, blood and CSF tests, brain MRI, therapies, length of stay, ICU admission, complications, and mortality. The two groups were compared to identify any differences and similarities. Twenty-five patients (15 EV and 10 HpEV) with a median age of 15 days were included. EV patients had a more frequent history of prematurity/neonatal respiratory distress syndrome (p = 0.021), more respiratory symptoms on admission (p = 0.012), and higher C-reactive protein (CRP) levels (p = 0.027), whereas ferritin values were significantly increased in HpEV patients (p = 0.001). Eight patients had a pathological brain MRI, equally distributed between the two groups. Three EV patients developed myocarditis and one HpEV necrotizing enterocolitis with HLH-like. No deaths occurred. Conclusion: EV and HpEV CNS infections are not easily distinguishable by clinical features. In both cases, brain MRI abnormalities are not uncommon, and a severe course of the disease is possible. Hyper-ferritinemia may represent an additional diagnostic clue for HpEV infection, and its monitoring is recommended to intercept HLH early and initiate immunomodulatory treatment. Larger studies are needed to confirm our findings. What is Known: ⢠Parechovirus and Enteroviruses are the most common viral pathogens responsible for sepsis and meningoencephalitis in neonates and young infants. ⢠The clinical course and distinguishing features of Parechovirus and Enterovirus central nervous system infections are not well described. What is New: ⢠Severe disease course, brain MRI abnormalities, and complications are not uncommon in newborns with Parechovirus and Enteroviruses central nervous system infections. ⢠Hyper-ferritinemia may represent an additional diagnostic clue for Parechovirus infection and its monitoring is recommended.
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Infecciones por Enterovirus , Parechovirus , Infecciones por Picornaviridae , Humanos , Infecciones por Enterovirus/diagnóstico , Infecciones por Enterovirus/epidemiología , Infecciones por Enterovirus/complicaciones , Masculino , Estudios Retrospectivos , Femenino , Parechovirus/aislamiento & purificación , Recién Nacido , Infecciones por Picornaviridae/diagnóstico , Infecciones por Picornaviridae/complicaciones , Infecciones por Picornaviridae/epidemiología , Enterovirus/aislamiento & purificación , Italia/epidemiología , Infecciones del Sistema Nervioso Central/virología , Infecciones del Sistema Nervioso Central/diagnóstico , Infecciones del Sistema Nervioso Central/epidemiología , Infecciones del Sistema Nervioso Central/líquido cefalorraquídeo , Imagen por Resonancia MagnéticaRESUMEN
BACKGROUND: The optimal timing and surgical approach for surgical revascularization in patients with moyamoya syndrome (MMS) associated with neurofibromatosis type I (NF1) remain so far elusive. We aimed to compare the long-term clinical, radiological, and cognitive effects of different revascularization procedures in a pediatric cohort of NF1-associated MMS. METHODS: We reviewed the clinical, radiological, and surgical data of 26 patients with NF1-associated MMS diagnosed at our institution between 2012 and 2022, at the clinical onset and last follow-up. RESULTS: Indirect bypasses were performed in 12/26 patients (57.1%), while combined direct and indirect procedures in 9/26 subjects (42.9%); 5 patients did not undergo surgery. Through logistic regression analysis, pathological Wechsler Intelligence Scale for Children (WISC) at onset was found to be associated with symptom improvement at 1-year follow up (p = 0.006). No significant differences were found in long-term neurocognitive outcome and stroke rate in patients receiving combined or indirect bypass (p > 0.05). CONCLUSIONS: Currently, whether combined or indirect bypass should be considered the treatment of choice in pediatric patients with NF1-associated MMS remains unclear, as well as the optimal time approach. In our series, no significant differences were found in long-term neurocognitive outcome and stroke rate between patients treated with either of these two approaches. Clinical evidence supports the crucial role of early diagnosis and surgical revascularization in subjects with MMS-associated NF1, even in case of mildly symptomatic vasculopathy. This allows to achieve a good long-term outcome with improved intellectual function and prevention of stroke and seizure in these patients.
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Revascularización Cerebral , Enfermedad de Moyamoya , Neurofibromatosis 1 , Humanos , Enfermedad de Moyamoya/cirugía , Enfermedad de Moyamoya/complicaciones , Neurofibromatosis 1/complicaciones , Neurofibromatosis 1/cirugía , Femenino , Niño , Masculino , Revascularización Cerebral/métodos , Adolescente , Preescolar , Estudios Retrospectivos , Resultado del Tratamiento , Complicaciones Posoperatorias/etiología , Complicaciones Posoperatorias/prevención & controlRESUMEN
BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) represent 20-30% of all birth defects and are often associated with extra-renal malformations. We investigated the frequency of brain/spine malformations and neurological features in children with CAKUT. METHODS: We reviewed the clinico-radiological and genetic data of 199 out of 1,165 children with CAKUT evaluated from 2006 to 2023 (99 males, mean age at MRI 6.4 years) who underwent brain and/or spine MRI. Patients were grouped according to the type of CAKUT (CAKUT-K involving the kidney and CAKUT-H involving the inferior urinary tract). Group comparisons were performed using χ2 and Fisher exact tests. RESULTS: Brain/spine malformations were observed in 101/199 subjects (50.7%), 8.6% (101/1165) of our CAKUT population, including midbrain-hindbrain anomalies (40/158, 25.3%), commissural malformations (36/158, 22.7%), malformation of cortical development (23/158, 14.5%), Chiari I anomaly (12/199, 6%), cranio-cervical junction malformations (12/199, 6%), vertebral defects (46/94, 48.9%), caudal regression syndrome (29/94, 30.8%), and other spinal dysraphisms (13/94, 13.8%). Brain/spine malformations were more frequent in the CAKUT-K group (62.4%, p < 0.001). Sixty-two subjects (62/199, 31.2%) had developmental delay/intellectual disability. Neurological examination was abnormal in 40/199 (20.1%). Seizures and/or electroencephalographic anomalies were reported in 28/199 (14%) and behavior problems in 19/199 subjects (9%). Developmental delay/intellectual disability was more frequent in kidney dysplasia (65.2%) and agenesis (40.7%) (p = 0.001). CONCLUSIONS: We report a relative high frequency of brain/spine malformations and neurodevelopmental disorders in children with CAKUT who underwent MRI examinations in a tertiary referral center, widening the spectrum of anomalies associated with this condition.
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Encéfalo , Imagen por Resonancia Magnética , Trastornos del Neurodesarrollo , Columna Vertebral , Anomalías Urogenitales , Humanos , Masculino , Femenino , Niño , Preescolar , Trastornos del Neurodesarrollo/epidemiología , Trastornos del Neurodesarrollo/etiología , Trastornos del Neurodesarrollo/diagnóstico , Columna Vertebral/anomalías , Columna Vertebral/diagnóstico por imagen , Anomalías Urogenitales/epidemiología , Anomalías Urogenitales/complicaciones , Anomalías Urogenitales/diagnóstico , Encéfalo/diagnóstico por imagen , Encéfalo/anomalías , Encéfalo/patología , Estudios Retrospectivos , Lactante , Adolescente , Reflujo VesicoureteralRESUMEN
Extra-uterine growth restriction (EUGR) is a common complication and a known risk factor for impaired development in very-low-birth-weight (VLBW) neonates. We report a population of 288 patients with no or with low-grade MRI lesions scanned at a term equivalent age (TEA) born between 2012 and 2018. Griffiths Mental Development Scale II (GMDS II) at 2 and 3 years, preterm complications and weight growth were retrospectively analyzed. EUGR was defined for weight z-score Ë 10 percentile at TEA, 6 and 12 months of correct age or as z-score decreased by 1-point standard deviation (SDS) from birth to TEA and from TEA to 6 months. Multivariate analysis showed that a higher weight z-score at 6 months is protective for the global developmental quotient (DQ) at 2 years (OR 0.74; CI 95% 0.59-0.93; p = 0.01). EUGR at 6 months was associated with worse locomotor, personal/social, language and performance DQ at 2 years and worse language and practical reasoning DQ at 3 years. In conclusion, a worse weight z-score at 6 months of age seems to be an independent risk factor for significantly reduced GMDS in many areas. These results suggest that we should invest more into post-discharge nutrition, optimizing family nutritional education.
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Cuidados Posteriores , Recien Nacido Prematuro , Recién Nacido , Humanos , Lactante , Estudios Retrospectivos , Alta del Paciente , Recién Nacido de muy Bajo Peso , Peso al Nacer , Encéfalo/diagnóstico por imagenRESUMEN
We report the case of a preterm of 27 weeks of gestation who developed posthemorrhagic ventricular dilatation associated to a complete thrombosis of the superior sagittal sinus, for its peculiar interest in clarifying the physiology of the cerebrospinal fluid (CSF) dynamics. The exact CSF volume that must be removed to improve cerebral hemodynamics and outcomes in infants with posthemorrhagic ventricular dilatation is unknown. According to Volpe's studies, a volume of 10 to 15 mL/kg/die of body weight is commonly chosen. The subject we report needed an excessive CSF drainage (up to 32 mL/kg/d), in presence of a functioning external ventricular drain. We review the literature on the topic, and we postulate that the superior sagittal sinus may play an active role in the CSF dynamics of the immature brain (as it happens for the adult brain).
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Hidrocefalia , Recien Nacido Prematuro , Lactante , Adulto , Recién Nacido , Humanos , Seno Sagital Superior/diagnóstico por imagen , Encéfalo/diagnóstico por imagen , Hemodinámica , Pérdida de Líquido Cefalorraquídeo/complicaciones , Hemorragia CerebralAsunto(s)
Neoplasias Encefálicas , Hidrocefalia , Nistagmo Patológico , Humanos , Neoplasias Encefálicas/complicaciones , Neoplasias Encefálicas/diagnóstico por imagen , Hidrocefalia/complicaciones , Hidrocefalia/diagnóstico por imagen , Nistagmo Patológico/diagnóstico , Nistagmo Patológico/etiología , Masculino , Niño , Diplopía/etiología , Imagen por Resonancia MagnéticaRESUMEN
Background: Vein of Galen aneurysmal malformation (VGAM) is a rare cerebral vascular malformation associated with significant morbidity and mortality. Newborns with VGAM without adequate treatment may develop rapidly deteriorating high output heart failure (HOHF) and are at risk for severe neurological outcomes. Objective: To describe the clinical course and management of newborns with VGAM, and identify which echocardiographic and neuroradiologic factors may be associated with severe heart failure at birth and adverse short term outcomes. Methods: This is a single center retrospective cohort study including all consecutive newborns with VGAM admitted to Gaslini Children's Hospital between 2009 and 2022. We reviewed clinical data, intensive care support, fetal and neonatal cardiologic and neuroradiologic findings and we studied the association with severe HOHF, endovascular complications and death. Results: Out of 40 newborns, 17 (42.5%) developed severe HOHF requiring early endovascular procedures. Medical treatment was focused on the main components of HOHF by providing inotropic support and peripheral vasodilation. Pulmonary vasodilators were avoided to reduce the negative effects of pulmonary overflow and prevent vascular remodeling. Reduction of the obligatory left to right shunt through the VGAM was possible only through endovascular treatment. Fetal cardiothoracic ratio was significantly associated with severe HOHF at birth and death. Cardiologic parameters of right ventricular overload, pulmonary hypertension and systemic steal were the leading findings associated with haemodynamic compromise at birth. The mediolateral diameter of the straight or falcine sinus at its shortest section (SS-MD), and arterial pseudofeeders were significantly associated with severe HOHF at birth in prenatal and postnatal assessments. None of the postnatal echocardiographic and MRI variables, nor a higher inotropic support were associated with major periprocedural complications or death. Mortality was due to palliation for congenital severe brain damage (4/40, 10%), or major periprocedural complications (3/40, 7.5%). None of the patients died due to HOHF and multiorgan failure. Overall survival at discharge was 82.5% (33/40). Conclusions: The complexity of neonatal VGAM pathophysiology requires a multidisciplinary approach, specialized intensive care management, and early endovascular treatment to reduce mortality and optimize clinical outcomes. Cardiologic and neuroradiologic parameters are key to define risk stratification and treatment strategies.
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Laser ablation for treatment of hypothalamic hamartoma (HH) is a minimally invasive and effective technique used to destroy hamartomatous tissue and disconnect it from the functioning brain. Currently, the gold standard to evaluate the amount of tissue being "burned" is the use of heat maps during the ablation procedure. However, these maps have low spatial resolution and can be misleading in terms of extension of the tissue damage. The aim of this study is to use different MRI sequences immediately after each laser ablation and correlate the extension of signal changes with the volume of malacic changes in a long-term follow-up scan. During the laser ablation procedure, we imaged the hypothalamic region with high-resolution axial diffusion-weighted images (DWI) and T2-weighted images (T2WI) after each ablation. At the end of the procedure, we also added a post-contrast T1-weighted image (T1WI) of the same region. We then correlated the product of the maximum diameters on axial showing signal changes (acute oedema on T2WI, DWI restriction rim, DWI hypointense core and post-contrast T1WI rim) with the product of the maximum diameters on axial T2WI of the malacic changes in the follow-up scan, both as a fraction of the total area of the hamartoma. The area of the hypointense core on DWI acquired immediately after the laser ablation statistically correlated better with the final area of encephalomalacia, while the T2WI, hyperintense oedema, DWI rim and T1WI rim of enhancement tended to overestimate the encephalomalacic damage. In conclusion, the use of intraoperative sequences (in particular DWI) during laser ablation can give surgeons valuable information in real time about the effective heating damage on the hamartomatous tissue, with better spatial resolution in comparison to the thermal maps.
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MED27 is a subunit of the Mediator multiprotein complex, which is involved in transcriptional regulation. Biallelic MED27 variants have recently been suggested to be responsible for an autosomal recessive neurodevelopmental disorder with spasticity, cataracts and cerebellar hypoplasia. We further delineate the clinical phenotype of MED27-related disease by characterizing the clinical and radiological features of 57 affected individuals from 30 unrelated families with biallelic MED27 variants. Using exome sequencing and extensive international genetic data sharing, 39 unpublished affected individuals from 18 independent families with biallelic missense variants in MED27 have been identified (29 females, mean age at last follow-up 17 ± 12.4 years, range 0.1-45). Follow-up and hitherto unreported clinical features were obtained from the published 12 families. Brain MRI scans from 34 cases were reviewed. MED27-related disease manifests as a broad phenotypic continuum ranging from developmental and epileptic-dyskinetic encephalopathy to variable neurodevelopmental disorder with movement abnormalities. It is characterized by mild to profound global developmental delay/intellectual disability (100%), bilateral cataracts (89%), infantile hypotonia (74%), microcephaly (62%), gait ataxia (63%), dystonia (61%), variably combined with epilepsy (50%), limb spasticity (51%), facial dysmorphism (38%) and death before reaching adulthood (16%). Brain MRI revealed cerebellar atrophy (100%), white matter volume loss (76.4%), pontine hypoplasia (47.2%) and basal ganglia atrophy with signal alterations (44.4%). Previously unreported 39 affected individuals had seven homozygous pathogenic missense MED27 variants, five of which were recurrent. An emerging genotype-phenotype correlation was observed. This study provides a comprehensive clinical-radiological description of MED27-related disease, establishes genotype-phenotype and clinical-radiological correlations and suggests a differential diagnosis with syndromes of cerebello-lental neurodegeneration and other subtypes of 'neuro-MEDopathies'.
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Catarata , Epilepsia Generalizada , Epilepsia , Trastornos del Movimiento , Trastornos del Neurodesarrollo , Femenino , Humanos , Lactante , Preescolar , Niño , Adolescente , Adulto Joven , Adulto , Persona de Mediana Edad , Epilepsia/genética , Cerebelo/patología , Trastornos del Neurodesarrollo/genética , Epilepsia Generalizada/patología , Trastornos del Movimiento/diagnóstico por imagen , Trastornos del Movimiento/genética , Atrofia/patología , Catarata/genética , Catarata/patología , Fenotipo , Complejo Mediador/genéticaRESUMEN
BACKGROUND: Encephalitis is an uncommon but severe disorder due to an inflammation of the brain parenchyma, usually diagnosed on clinical, laboratory, electroencephalographic, and neuroradiological features. New causes of encephalitis have been reported in recent years, so diagnostic criteria have changed over time. We report on a single-center experience of a pediatric Hospital, the hub of its region, over 12 years (2008-2021), with the evaluation of all children managed for acute encephalitis. METHODS: We retrospectively reviewed clinical, laboratory, neuroradiological, and EEG data from the acute phase and outcome of all immunocompetent patients diagnosed with acute encephalitis. According to the newly proposed criteria for pediatric autoimmune encephalitis, we divided patients into infectious, definite autoimmune, probable autoimmune, and possible autoimmune, and performed a comparison between the different groups. RESULTS: 48 patients (26 females, mean age 4.4 years), 19 with infections, and 29 with autoimmune encephalitis, were included. Herpes simplex virus 1 encephalitis was the most frequently identified etiology followed by anti-NMDA receptor encephalitis. Movement disorders at onset and a longer hospital stay were observed more frequently in autoimmune compared to infectious encephalitis (p p < 0.001 and p = 0.001, respectively). Among the autoimmune group, children who started immunomodulatory treatment earlier (within 7 days from onset) had more frequent complete functional recovery (p = 0.002). CONCLUSIONS: Herpes virus and anti-NMDAR encephalitis are the most frequent etiologies within our cohort. Clinical onset and course are extremely variable. Since early immunomodulatory treatment was associated with a better functional outcome, our data confirm that a timely diagnostic classification in definite, probable, or possible autoimmune encephalitis can help the clinician in a successful therapeutic approach.
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Encefalitis Antirreceptor N-Metil-D-Aspartato , Enfermedad de Hashimoto , Femenino , Humanos , Niño , Preescolar , Estudios Retrospectivos , Encefalitis Antirreceptor N-Metil-D-Aspartato/diagnóstico , Encéfalo/diagnóstico por imagenRESUMEN
Sellar/suprasellar tumors comprise about 10% of all pediatric Central Nervous System (CNS) tumors and include a wide variety of entities, with different cellular origins and distinctive histological and radiological findings, demanding customized neuroimaging protocols for appropriate diagnosis and management. The 5th edition of the World Health Organization (WHO) classification of CNS tumors unprecedently incorporated both histologic and molecular alterations into a common diagnostic framework, with a great impact in tumor classification and grading. Based on the current understanding of the clinical, molecular, and morphological features of CNS neoplasms, there have been additions of new tumor types and modifications of existing ones in the latest WHO tumor classification. In the specific case of sellar/suprasellar tumors, changes include for example separation of adamantinomatous and papillary craniopharyngiomas, now classified as distinct tumor types. Nevertheless, although the current molecular landscape is the fundamental driving force to the new WHO CNS tumor classification, the imaging profile of sellar/suprasellar tumors remains largely unexplored, particularly in the pediatric population. In this review, we aim to provide an essential pathological update to better understand the way sellar/suprasellar tumors are currently classified, with a focus on the pediatric population. Furthermore, we intend to present the neuroimaging features that may assist in the differential diagnosis, surgical planning, adjuvant/neoadjuvant therapy, and follow-up of this group of tumors in children.
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BACKGROUND: This study aims to evaluate the use of a computer-aided, semi-quantification approach to [18F]F-DOPA positron emission tomography (PET) in pediatric-type diffuse gliomas (PDGs) to calculate the tumor-to-background ratio. METHODS: A total of 18 pediatric patients with PDGs underwent magnetic resonance imaging and [18F]F-DOPA PET, which were analyzed using both manual and automated procedures. The former provided a tumor-to-normal-tissue ratio (TN) and tumor-to-striatal-tissue ratio (TS), while the latter provided analogous scores (tn, ts). We tested the correlation, consistency, and ability to stratify grading and survival between these methods. RESULTS: High Pearson correlation coefficients resulted between the ratios calculated with the two approaches: ρ = 0.93 (p < 10-4) and ρ = 0.814 (p < 10-4). The analysis of the residuals suggested that tn and ts were more consistent than TN and TS. Similarly to TN and TS, the automatically computed scores showed significant differences between low- and high-grade gliomas (p ≤ 10-4, t-test) and the overall survival was significantly shorter in patients with higher values when compared to those with lower ones (p < 10-3, log-rank test). CONCLUSIONS: This study suggested that the proposed computer-aided approach could yield similar results to the manual procedure in terms of diagnostic and prognostic information.
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BACKGROUND AND OBJECTIVE: Choosing the most appropriate denoising method to improve the quality of diagnostic images maximally is key in pre-processing of diffusion MRI images. Recent advancements in acquisition and reconstruction techniques have questioned traditional noise estimation methods favoring adaptive denoising frameworks, circumventing the need to know a priori information that is hardly available in a clinical setting. In this observational study, we compared two innovative adaptive techniques sharing some features, Patch2Self and Nlsam, through application on reference adult data at 3T and 7T. The primary aim was identifying the most effective method in case of Diffusion Kurtosis Imaging (DKI) data - particularly susceptible to noise and signal fluctuations - at 3T and 7T fields. A side goal consisted of investigating the dependence of kurtosis metrics' variability with respect to the magnetic field on the adopted denoising methodology. METHODS: For comparison purposes, we focused on qualitative and quantitative analysis of DKI data and related microstructural maps before and after applying the two denoising approaches. Specifically, we assessed computational efficiency, preservation of anatomical details via perceptual metrics, consistency of microstructure model fitting, alleviation of degeneracies in model estimation, and joint variability with varying field strength and denoising method. RESULTS: Accounting for all these factors, Patch2Self framework has turned out to be specifically suitable for DKI data, with improving performance at 7T. Nlsam method is more robust in alleviating degenerate black voxels while introducing some blurring, which in turn is reflected in an overall loss of image sharpness. Regarding the impact of denoising on field-dependent variability, both methods have been shown to make variations from standard to Ultra-High Field more concordant with theoretical evidence, claiming that kurtosis metrics are sensitive to susceptibility-induced background gradients, directly proportional to the magnetic field strength and sensitive to the microscopic distribution of iron and myelin. CONCLUSIONS: This study serves as a proof-of-concept stressing the need for an accurate choice of a denoising methodology, specifically tailored for the data under analysis and allowing higher spatial resolution acquisition within clinically compatible timings, with all the potential benefits that improving suboptimal quality of diagnostic images entails.
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Imagen de Difusión por Resonancia Magnética , Imagen de Difusión Tensora , Humanos , Adulto , Imagen de Difusión Tensora/métodos , Imagen de Difusión por Resonancia Magnética/métodos , Campos Magnéticos , Benchmarking , Encéfalo/diagnóstico por imagenRESUMEN
AIMS: To investigate the trajectory of bilirubin from birth to the first 48 h of life in neonates of women with gestational diabetes. METHODS: In a cohort of 69 neonates of women with gestational diabetes, delivered at Policlinic Abano, Abano Terme, Italy, from October 2021 to May 2022, we conducted a case-control study (1:2 ratio) on total serum bilirubin (TSB) trajectory over the first 48 h after birth. An ancillary analysis was conducted on arterial cord blood gas analysis at birth and on concurrent hemoglobin, hematocrit, lactate, glycemia, and bilirubin levels. RESULTS: The neonates of women with gestational diabetes showed a significantly higher mean percent variation of TSB from birth to the first 48 h of life (p = 0.01), a finding supported by a higher, although not significant, TSB levels at 48 h of life in comparison to controls (8.05 ± 4.8 vs 8.05 ± 4 mg%, p = 0.082), and by a significantly lower cord TSB levels (2.3 ± 0.9 vs 2.6 ± 0.9 mg%, p = 0.010). CONCLUSIONS: The findings suggest that future primary studies on hyperbilirubinemia risk in neonates of women with gestational diabetes should consider the trajectory of TSB beyond the first 48 h, adjusting for a more complete set of pre-pregnancy and gestational prognostic risk factors.