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1.
BMC Cancer ; 24(1): 1146, 2024 Sep 13.
Artículo en Inglés | MEDLINE | ID: mdl-39272048

RESUMEN

BACKGROUND: The Multidisciplinary Tumor Board (MTB) is a collaborative platform involving specialists in oncology, surgery, radiology, pathology, and radiotherapy, and aims to optimize diagnostics and treatments. Despite MTB's widespread benefits, limited literature addresses its application in pediatric neuro-oncology. After a literature revision on pediatric neuro-oncology MTB, our study describes our institute's pediatric neuro-oncology MTB, focuses on evaluating its impact and the neuroradiologist's role in patient-centric approaches, considering recent genetic insights into pediatric brain tumors. MATERIALS AND METHODS: Literature Review concerning pediatric neuro-oncology MTB from January 2002 to June 2024. CLINICAL DATA: retrospective study of all patient files presented in the pediatric neuro-oncology MTB (pnMTB) between 2019 and 2022. Statistical analysis was mainly carried out by directly comparing the absolute or relative values of the respective parameters examined; qualitative variables compared mainly with the chi-square test, quantitative variables mainly with the t-test. RESULTS: Literature Review: 7 papers encompass a multidisciplinary approach for the pediatric CNS tumors. CLINICAL DATA: A total of 236 discussions were analyzed representing 107 patients. Median age was 14,3 years (range: 6 months - 17 years). The requests for case evaluations primarily came from the pediatric oncologists (83%) and neurosurgeons (14.8%), and they were mainly addressed to the neuroradiologists (70.3%). Proposals during pnMTB mainly involved imaging follow-up (47.8%) and management with chemotherapy (34.7%). Changes in patient treatment (CPT) occurred in 115 cases, and pediatric neuroradiologist intervention contributed to 72.4% of these changes. CONCLUSION: Thanks to their multidisciplinarity, high number of cases discussed, and usual respect for their proposals, the pnMTB has made it possible to improve the coordination among specialties involved in patient management, to apply the recent protocols, and to exchange knowledge among teams managing pediatric CNS tumors.


Asunto(s)
Neoplasias del Sistema Nervioso Central , Humanos , Niño , Adolescente , Estudios Retrospectivos , Preescolar , Femenino , Masculino , Lactante , Neoplasias del Sistema Nervioso Central/terapia , Grupo de Atención al Paciente , Oncología Médica/métodos , Neoplasias Encefálicas/terapia
2.
Epilepsia Open ; 9(1): 258-267, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-37943120

RESUMEN

OBJECTIVE: Cardio-facio-cutaneous syndrome (CFC) is a genetic disorder due to variants affecting genes coding key proteins of the Ras/MAPK signaling pathway. Among the different features of CFC, neurological involvement, including cerebral malformations and epilepsy, represents a common and clinically relevant aspect. Status epilepticus (SE) is a recurrent feature, especially in a specific subgroup of CFC patients with developmental and epileptic encephalopathy (DEE) and history of severe pharmacoresistant epilepsy. Here we dissect the features of SE in CFC patients with a particular focus on longitudinal magnetic resonance imaging (MRI) findings to identify clinical-radiological patterns and discuss the underlying physiopathology. METHODS: We retrospectively analyzed clinical, electroencephalogram (EEG), and MRI data collected in a single center from a cohort of 23 patients with CFC carrying pathogenic BRAF variants who experienced SE during a 5-year period. RESULTS: Seven episodes of SE were documented in 5 CFC patients who underwent EEG and MRI at baseline. MRI was performed during SE/within 72 hours from SE termination in 5/7 events. Acute/early post-ictal MRI findings showed heterogenous abnormalities: restricted diffusion in 2/7, focal area of pcASL perfusion change in 2/7, focal cortical T2/FLAIR hyperintensity in 2/7. Follow-up images were available for 4/7 SE. No acute changes were detected in 2/7 (MRI performed 4 days after SE termination). SIGNIFICANCE: Acute focal neuroimaging changes concomitant with ictal EEG focus were present in 5/7 episodes, though with different findings. The heterogeneous patterns suggest different contributing factors, possibly including the presence of focal cortical malformations and autoinflammation. When cytotoxic edema is revealed by MRI, it can be followed by permanent structural damage, as already observed in other genetic conditions. A better understanding of the physiopathology will provide access to targeted treatments allowing to prevent long-term adverse neurological outcome. PLAIN LANGUAGE SUMMARY: Cardio-facio-cutaneous syndrome is a genetic disorder that often causes prolonged seizures known as status epilepticus. This study has a focus on electroclinical and neuroimaging patterns in patients with cardio-facio-cutaneous syndrome. During these status epilepticus episodes, we found different abnormal brain imaging patterns in patients, indicating various causes like brain malformations and inflammation. Understanding these patterns could help doctors find specific treatments, protecting cardio-facio-cutaneous syndrome patients from long-term brain damage.


Asunto(s)
Displasia Ectodérmica , Epilepsia , Facies , Insuficiencia de Crecimiento , Cardiopatías Congénitas , Estado Epiléptico , Humanos , Proteínas Proto-Oncogénicas B-raf/genética , Estudios Retrospectivos , Estado Epiléptico/diagnóstico por imagen , Estado Epiléptico/genética , Neuroimagen
3.
J Cancer Res Ther ; 19(2): 228-234, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37313902

RESUMEN

Background: Neurofibromatosis type 1 (NF1)-related gliomas appear to have a clinical behavior different from that of sporadic cases. The purpose of the study was to investigate the role of different factors in influencing the tumor response rate of children receiving chemotherapy for their symptomatic glioma. Methods: Between 1995 and 2015, 60 patients with low-grade glioma (42 sporadic cases and 18 cases with NF1) were treated. Patients with brainstem gliomas were excluded. Thirty-nine patients underwent exclusive or postsurgical chemotherapy (vincristine/carboplatin-based regimen). Results: Disease reduction was achieved in 12 of the 28 patients (42.8%) with sporadic low-grade glioma and in 9 of the 11 patients (81.8%) with NF1, with a significant difference between the 2 groups (P < 0.05). The response to chemotherapy in both the patient groups was not significantly influenced by sex, age, tumor site, and histopathology, although disease reduction occurred more frequently in children aged under 3 years. Conclusions: Our study showed that pediatric patients with low-grade glioma and NF1 are more likely to respond to chemotherapy than those with non-NF1.


Asunto(s)
Protocolos de Quimioterapia Combinada Antineoplásica , Glioma , Neurofibromatosis 1 , Niño , Preescolar , Humanos , Glioma/diagnóstico , Glioma/terapia , Neurofibromatosis 1/diagnóstico , Neurofibromatosis 1/terapia , Vincristina , Carboplatino
4.
Childs Nerv Syst ; 39(6): 1641-1646, 2023 06.
Artículo en Inglés | MEDLINE | ID: mdl-36757431

RESUMEN

BACKGROUND: Laminotomy has been introduced in surgical practice to reduce complications of laminectomy after surgery of tumors in the spinal canal. However, the posterior ligament complex, which is routinely interrupted to remove the laminoplasty segment and gain access to the spinal canal, has a tendency not to heal and can lead to progressive kyphosis and collapse. CASE PRESENTATION: A 5-month-old boy affected by a thoracolumbar extradural tumor extending along seven spinal levels was operated on. The tumor was exposed and completely resected by a one-piece laminotomy with preservation of the integrity of the posterior tension band at both extremities. After 1-year radiological examination ruled out spinal deformity. CONCLUSION: The technique herein presented, which we named in situ laminotomy, allows to fully preserve the posterior tension band without reducing the exposure of the spinal canal in multilevel tumors. Additionally, the technique makes also the reconstruction of the spine elements very easy and rapid. However, longer follow-up is necessary to prove the effectiveness of this procedure in preventing long-term deformity and instability.


Asunto(s)
Neoplasias de la Médula Espinal , Neoplasias de la Columna Vertebral , Masculino , Humanos , Niño , Lactante , Laminectomía/métodos , Neoplasias de la Columna Vertebral/diagnóstico por imagen , Neoplasias de la Columna Vertebral/cirugía , Neoplasias de la Columna Vertebral/complicaciones , Columna Vertebral/cirugía , Neoplasias de la Médula Espinal/diagnóstico por imagen , Neoplasias de la Médula Espinal/cirugía , Neoplasias de la Médula Espinal/complicaciones , Canal Medular/cirugía
5.
Clin Genet ; 104(1): 136-138, 2023 07.
Artículo en Inglés | MEDLINE | ID: mdl-36757675

RESUMEN

Noonan syndrome (NS) belongs to RASopathies, a family of disorders caused by unregulated signaling through the RAS-MAPK pathway. Herein, we report on an individual with molecularly confirmed diagnosis of NS showing asymptomatic enlarged spinal nerve roots, which are distinctive features of neurofibromatosis type 1. To date, a total of 16 patients with neurogenic tumors resembling neurofibromas/schwannomas and a molecularly confirmed diagnosis of a non-NF1 RASopathy have been reported, adding this further feature shared among RASopathies.


Asunto(s)
Neurofibromatosis , Neurofibromatosis 1 , Síndrome de Noonan , Humanos , Síndrome de Noonan/diagnóstico , Síndrome de Noonan/genética , Proteínas Proto-Oncogénicas p21(ras)/genética , Neurofibromatosis 1/complicaciones , Neurofibromatosis 1/diagnóstico , Neurofibromatosis 1/genética , Raíces Nerviosas Espinales/diagnóstico por imagen , Mutación
6.
Diagnostics (Basel) ; 13(3)2023 Jan 28.
Artículo en Inglés | MEDLINE | ID: mdl-36766580

RESUMEN

PURPOSE: To assess the main imaging and clinical features in adult- and pediatric-onset atypical teratoid rhabdoid tumor (ATRT) in order to build a predefined pathway useful for the diagnosis. METHODS: We enrolled 11 ATRT patients (10 children, one adult) and we conducted a literature search on PubMed Central using the key terms "adult" or "pediatric" and "atypical teratoid/rhabdoid tumor". We collected clinical and neuroradiological data reported in previous studies and combined them with those from our case series. A three step process was built to reach diagnosis by identifying the main distinctive clinical and imaging features. RESULTS: Clinical evaluation: neurological symptoms were nonspecific. ATRT was more frequent in children under 3 years of age (7 out of 10 children) and infratentorial localization was reported more frequently in children under the age of 24 months. Midline/off-midline localization was influenced by the age. IMAGING FINDINGS: Preferential location near the ventricles and liquor spaces and the presence of eccentric cysts were hallmark for ATRT; higher frequency of peripheral cysts was detected in children and in the supratentorial compartment (five out of eight patients with solid-cystic ATRT). Leptomeningeal dissemination at diagnosis was common (5 out of 10 children), while intratumoral hemorrhage, calcifications, and high cellularity were non-specific findings. Histopathological analysis: specific immunohistochemical markers were essential to confirm the diagnosis. CONCLUSION: In younger children, a bulky, heterogeneous mass with eccentric cystic components and development near ventricles or cisternal spaces may be suggestive of ATRT. ATRT diagnosis is more challenging in adults and relies exclusively on neuropathological examination.

7.
Front Pediatr ; 11: 1293526, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38322242

RESUMEN

Background: Hypoxic-ischemic encephalopathy (HIE) represents one of the major causes of neonatal death and long-term neurological disability. Both hypoxic-ischemic insults and therapeutic hypothermia (TH) can affect respiratory function. Currently, there is no evidence regarding optimal respiratory management in these infants. Methods: This is a retrospective cohort study examining newborns with HIE treated with TH between January 2015 and September 2020. The study population was divided into two groups based on different respiratory assistance during TH: spontaneous breathing (Group A) or mechanical ventilation (Group B). The primary outcome of the study was the mean pCO2 ± SD evaluation during TH in ventilated and non-ventilated asphyxiated infants. The secondary outcome was the correlation between ventilation strategy and short-term neurologic outcome according to Rutherford et al.'s MRI scoring system. Results: A total of 126 newborns were enrolled, 75 in Group A and 51 in Group B. Respiratory management was individualized, and volume guarantee (VG) ventilation was the first choice for ventilated infants. Group B infants showed more severe conditions at birth. During TH, ventilated infants showed optimal mean pCO2 comparable with those breathing spontaneously (40.6 mmHg vs. 42.3 mmHg, respectively, p 0.091), with no significant difference in pCO2 standard deviation between (7.7 mmHg vs. 8.1 mmHg, respectively, p 0.522). Mean pH, pH standard deviation, mean pO2, pO2 standard deviation, and mean respiratory rate also did not differ between groups. MRI patterns of brain injury predictive of abnormal neurodevelopmental outcomes were similar in both groups. Logistic regression analysis demonstrated that only umbilical cord arterial blood pH-affected MRI lesions were associated with poor neurodevelopmental outcomes (OR 1.505; CI 95% 1.069-2.117). Conclusions: Infants cooled after HIE should receive individualized respiratory management, not necessarily involving intubation. In those infants requiring mechanical ventilation, a volume-targeted strategy appeared to be effective in maintaining stable blood gas levels. Short-term neurological outcomes appeared comparable in ventilated and non-ventilated infants.

8.
Medicina (Kaunas) ; 58(3)2022 Mar 17.
Artículo en Inglés | MEDLINE | ID: mdl-35334617

RESUMEN

Many qualitative and quantitative Magnetic Resonance Imaging (MRI) techniques have been applied to evaluate muscle fat degeneration in Duchenne muscular dystrophy (DMD) subjects, but only few studies have focused on the upper limbs. We reviewed the literature in order to evaluate the association between muscle MRI findings and motor function levels in the upper limbs of DMD patients. Ten studies with upper limb muscle MRI data were available. Four explored all upper limb segments, while six explored only the forearm. Functional assessments were performed in nine of the ten studies. All of the studies showed a significant correlation between muscle MRI changes and motor function levels in both ambulant and non-ambulant DMD patients.


Asunto(s)
Distrofia Muscular de Duchenne , Antebrazo , Humanos , Imagen por Resonancia Magnética/métodos , Músculo Esquelético , Distrofia Muscular de Duchenne/complicaciones , Distrofia Muscular de Duchenne/diagnóstico por imagen , Extremidad Superior/diagnóstico por imagen
9.
Medicina (Kaunas) ; 57(11)2021 Nov 18.
Artículo en Inglés | MEDLINE | ID: mdl-34833484

RESUMEN

Background and Objectives: The aim of this study was to evaluate longitudinal changes using both upper limb muscle Magnetic Resonance Imaging (MRI) at shoulder, arm and forearm levels and Performance of upper limb (PUL) in ambulant and non-ambulant Duchenne Muscular Dystrophy (DMD) patients. We also wished to define whether baseline muscle MRI could help to predict functional changes after one year. Materials and Methods: Twenty-seven patients had both baseline and 12month muscle MRI and PUL assessments one year later. Results: Ten were ambulant (age range 5-16 years), and 17 non ambulant (age range 10-30 years). Increased abnormalities equal or more than 1.5 point on muscle MRI at follow up were found on all domains: at shoulder level 12/27 patients (44%), at arm level 4/27 (15%) and at forearm level 6/27 (22%). Lower follow up PUL score were found in 8/27 patients (30%) at shoulder level, in 9/27 patients (33%) at mid-level whereas no functional changes were found at distal level. There was no constant association between baseline MRI scores and follow up PUL scores at arm and forearm levels but at shoulder level patients with moderate impairment on the baseline MRI scores between 16 and 34 had the highest risk of decreased function on PUL over a year. Conclusions: Our results confirmed that the integrated use of functional scales and imaging can help to monitor functional and MRI changes over time.


Asunto(s)
Distrofia Muscular de Duchenne , Adolescente , Adulto , Niño , Preescolar , Antebrazo/diagnóstico por imagen , Humanos , Imagen por Resonancia Magnética , Músculo Esquelético/diagnóstico por imagen , Músculos , Distrofia Muscular de Duchenne/diagnóstico por imagen , Extremidad Superior/diagnóstico por imagen , Adulto Joven
10.
Genes (Basel) ; 12(11)2021 11 11.
Artículo en Inglés | MEDLINE | ID: mdl-34828392

RESUMEN

Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a severe and heterogeneous multisystem condition with a prevalent peripheral nervous system impairment, due to mutations in the transthyretin gene. Considering the introduction of different disease-modifying therapies in the last few years, a need of reliable biomarkers is emerging. In this study, we evaluated muscle MRI in a cohort of ATTRv patients in order to establish if the severity of muscle involvement correlated with disease severity. Linear regression analysis showed a significant positive correlation between the total fatty infiltration score and NIS, NIS-LL, and Norfolk, and an inverse correlation with Sudoscan registered from feet. In conclusion, we demonstrated the role of muscle MRI in ATTRv as possible disease biomarker, both for diagnostic purposes and for assessing the severity of the disease.


Asunto(s)
Neuropatías Amiloides Familiares/diagnóstico por imagen , Imagen por Resonancia Magnética/métodos , Músculo Esquelético/diagnóstico por imagen , Anciano , Neuropatías Amiloides Familiares/genética , Neuropatías Amiloides Familiares/patología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Músculo Esquelético/patología , Proyectos Piloto , Prealbúmina/genética
11.
Genes (Basel) ; 12(9)2021 08 26.
Artículo en Inglés | MEDLINE | ID: mdl-34573299

RESUMEN

OBJECTIVE: Cardiofaciocutaneous syndrome (CFCS) is a rare developmental disorder caused by upregulated signaling through the RAS-mitogen-activated protein kinase (MAPK) pathway, mostly resulting from de novo activating BRAF mutations. Children with CFCS are prone to epilepsy, which is a major life-threatening complication. The aim of our study was to define the natural history of epilepsy in this syndrome and exploring genotype-phenotype correlations. METHODS: We performed an observational study, including 34 patients with molecularly confirmed diagnosis (11 males, mean age: 15.8 years). The mean follow-up period was 9.2 years. For all patients, we performed neurological examination, cognitive assessment when possible, neuroimaging, electrophysiological assessment and systematic assessment of epilepsy features. Correlation analyses were performed, taking into account gender, age of seizure onset, EEG features, degree of cognitive deficits, type of mutation, presence of non-epileptic paroxysmal events and neuroimaging features. RESULTS: Epilepsy was documented in 64% of cases, a higher prevalence compared to previous reports. Patients were classified into three groups based on their electroclinical features, long-term outcome and response to therapy. A genotype-phenotype correlation linking the presence/severity of epilepsy to the nature of the structural/functional consequences of mutations was observed, providing a stratification based on genotype to improve the clinical management of these patients.


Asunto(s)
Fenotipo
12.
J Neurol Sci ; 430: 119989, 2021 Nov 15.
Artículo en Inglés | MEDLINE | ID: mdl-34547614

RESUMEN

PURPOSE: To evaluate whether arterial and venous color-coded mCTA score may predict clinical outcome in anterior circulation acute ischemic stroke. METHODS: Consecutive patients referred to the emergency department with anterior circulation acute ischemic stroke (AIS) were retrospectively reviewed at our center. All patients underwent multimodal brain computed tomography (CT) imaging, including non-contrast CT (NCCT) and multiphase computed tomography angiography (mCTA). Baseline collateral scores of color-coded mCTA, also known as ColorViz, and conventional mCTA were recorded. mCTA was assessed by a 6-point scale whereas color-coded mCTA was assessed by a 3-point scale. In the Color-coded maps, a different color is assigned to intracranial vessels based on the arrival time of the contrast medium and on a per-person adaptive threshold technique. We compared the radiological and clinical features of a group of patients who reached independency (defined as modified Rankin Scale score ≤ 2) with those of patients who did not. A multivariate logistic regression model was then used to assess the potential of color-coded mCTA scores to predict patients' outcome after AIS. RESULTS: A total of 86 patients (36 M, 50 F) were enrolled in the study. Multivariate logistic regression showed that score 3 at Color-coded mCTA was a good predictor of favorable outcome (p = 0.003). Moreover, NIHSS at onset (p = 0.004) and discharge (p < 0.001) along with ischemic core area (p = 0.011) were significant predictors of favorable prognosis. CONCLUSION: our data confirm that ColorViz is a useful and easily understandable neuroimaging tool that might have a predictive role in assessing the outcome of anterior circulation acute ischemic stroke patients regardless of revascularization therapy.


Asunto(s)
Isquemia Encefálica , Accidente Cerebrovascular Isquémico , Accidente Cerebrovascular , Isquemia Encefálica/diagnóstico por imagen , Angiografía Cerebral , Angiografía por Tomografía Computarizada , Humanos , Estudios Retrospectivos , Accidente Cerebrovascular/diagnóstico por imagen , Accidente Cerebrovascular/terapia , Tomografía Computarizada por Rayos X , Resultado del Tratamiento
13.
Eur J Med Genet ; 64(4): 104187, 2021 04.
Artículo en Inglés | MEDLINE | ID: mdl-33676063

RESUMEN

RASopathies are a group of genetic conditions caused by germline variants in genes encoding signal transducers and modulators of the RAS-MAPK cascade. These disorders are multisystem diseases with considerable clinical overlap, even though distinct hallmarks are recognizable for each specific syndrome. Here we report on the presence of enlarged spinal nerve roots resembling neurofibromas, a typical neuroradiological finding of neurofibromatosis type 1, in two patients with a molecularly confirmed diagnosis of Noonan syndrome and cardio-facio-cutaneous syndrome, respectively. This evidence add enlarged spinal nerve roots as features shared among RASopathies. Future studies aiming to a better understanding of the molecular mechanisms leading to neurogenic tumor development in these patients are necessary to define their biological nature, evolution, prognosis and possible treatments.


Asunto(s)
Displasia Ectodérmica/patología , Insuficiencia de Crecimiento/patología , Cardiopatías Congénitas/patología , Síndrome de Noonan/patología , Raíces Nerviosas Espinales/patología , Niño , Displasia Ectodérmica/diagnóstico por imagen , Displasia Ectodérmica/genética , Facies , Insuficiencia de Crecimiento/diagnóstico por imagen , Insuficiencia de Crecimiento/genética , Cardiopatías Congénitas/diagnóstico por imagen , Cardiopatías Congénitas/genética , Humanos , Masculino , Síndrome de Noonan/diagnóstico por imagen , Síndrome de Noonan/genética , Raíces Nerviosas Espinales/diagnóstico por imagen , Proteínas ras/genética
14.
Comput Struct Biotechnol J ; 19: 705-709, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33505640

RESUMEN

The COVID-19 pandemic has substantially stressed health care systems globally, subsequently reducing cancer care services and delaying treatments. Pediatric populations infected by COVID-19 have shown mild clinical symptoms compared to adults, perhaps due to decreased susceptibility. Several scientific societies and governments have released information on the management of patients with cancer, wherein they warn against exposure to SARS-CoV-2 infection and suggest continuing treatment. To determine the best diagnostic and therapeutic approach, multidisciplinary tumor boards should convene regularly, including through conference calls and telematics platforms. A prompt diagnostic workup may reduce children's suffering and prevent loss of confidence in the health care system among parents. Moreover, ensuring adequate support and information regarding measures for preventing SARS-CoV-2 infection in pediatric patients and their families is essential for avoiding panic and excessive stress, allowing early reporting of any suspected symptoms of cancer and, in turn, facilitating early diagnosis and prompt modulation of treatment.

15.
Front Neurosci ; 15: 776860, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-35197818

RESUMEN

The term autism spectrum disorder (ASD) includes a wide variability of clinical presentation, and this clinical heterogeneity seems to reflect a still unclear multifactorial etiopathogenesis, encompassing different genetic risk factors and susceptibility to environmental factors. Several studies and many theories recognize as mechanisms of autism a disruption of brain development and maturation time course, suggesting the existence of common neurobiological substrates, such as defective synaptic structure and aberrant brain connectivity. Magnetic resonance imaging (MRI) plays an important role in both assessment of region-specific structural changes and quantification of specific alterations in gray or white matter, which could lead to the identification of an MRI biomarker. In this study, we performed measurement of cortical thickness in a selected well-known group of preschool ASD subjects with the aim of finding correlation between cortical metrics and clinical scores to understand the underlying mechanism of symptoms and to support early clinical diagnosis. Our results confirm that recent brain MRI techniques combined with clinical data can provide some useful information in defining the cerebral regions involved in ASD although large sample studies with homogeneous analytical and multisite approaches are needed.

16.
Brain Sci ; 10(11)2020 Nov 20.
Artículo en Inglés | MEDLINE | ID: mdl-33233665

RESUMEN

Prognosis of patients with acute ischemic stroke is strictly related to the patency and prominence of the collateral leptomeningeal pathways distal to the arterial occlusion. The gold standard for assessment of collateral circulation is conventional angiography, but it is invasive and used in selected cases. To date, the most reliable technique is multiphase CTA; currently, the available classifications of collateral circles are often complex, time-consuming, and require a trained observer. The purpose of our work is to establish the effectiveness of a new semi-automatic post-processing software (ColorViz FastStroke, GE Healthcare, Milwaukee, Wisconsin) in evaluation of collateral circulation compared to the six-point classifications of multiphase CTA already validated in literature. We selected 86 patients with anterior ischemic stroke symptoms who underwent multiphasic CTA in our emergency department. Two radiologists separately evaluated the collateral leptomeningeal vessels, analyzing respectively, the multiphase CTA (using the six-point scale and its trichotomized form) and ColorViz (using a three-point scale). Then the results were matched. We found a good correlation between the two different analyses; the main advantage of ColorViz is that, while maintaining fast diagnostic times, it allows a simpler and more immediate evaluation of collateral circulation, especially for less experienced radiologists.

17.
Brain Dev ; 42(6): 457-461, 2020 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-32209270

RESUMEN

BACKGROUND: Biotinidase deficiency (BTD) is an autosomal recessive inborn error of metabolism provoking progressive biotin depletion, which causes, in turn, multiple carboxylase deficiency. Its infantile onset is characterized by intractable seizures associated with lethargy, psychomotor regression, hypotonia, feeding and respiratory problems, and cutaneous abnormalities. CASE DESCRIPTION: We describe a 52-month-old female whose clinical and neuroradiological pictures were consistent with myelopathy, which is generally more frequent in older patients, as well as with symptoms of an infantile onset of biotinidase deficiency, revealed at 17 months. RESULTS: A biochemical biotinidase test revealed a profound deficiency of biotinidase detecting a 10% residual enzymatic activity, which led to the diagnosis of BTD. Gene sequencing revealed a compound heterozigous mutation (c.454A > C/c.1612C > T). CONCLUSION: Our findings suggest that even if myelopathy is uncommonly reported in BTD, and generally occurs in older children, its presence in childhood-onset floppiness should always be considered as a possible marker for an atypical presentation of BTD. Although, until recently, BTD myelopathy was believed to be prevalent in older children, a spinal cord involvement has also been described in at least nine cases in early infancy. Thus, another early diagnosis suggests that myelopathy may be more frequent than previously thought, and it is probably underdiagnosed because spinal MRI is not always routinely performed on these children. Early recognition of BTD disease is important as it would lead to prompt treatment, preventing irreversible brain damage and increasing the chances of complete recovery.


Asunto(s)
Deficiencia de Biotinidasa/diagnóstico , Deficiencia de Biotinidasa/genética , Médula Espinal/metabolismo , Biotinidasa/genética , Preescolar , Enfermedades Desmielinizantes/fisiopatología , Femenino , Humanos , Enfermedades Metabólicas/genética , Enfermedades Metabólicas/metabolismo , Mutación , Médula Espinal/fisiopatología , Enfermedades de la Médula Espinal/diagnóstico
18.
J Neurol ; 267(4): 898-912, 2020 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-31776722

RESUMEN

Only few studies have reported muscle involvement in spinal muscular atrophy using muscle MRI but this has not been systematically investigated in a large cohort of both pediatric and adult patients with type 2 and type 3 spinal muscular atrophy. The aim of the present study was to define possible patterns of muscle involvement on MRI, assessing both fatty replacement and muscle atrophy, in a cohort of type 2 and type 3 spinal muscular atrophy children and adults (age range 2-45 years), including both ambulant and non-ambulant patients. Muscle MRI protocol consisted in T1-weighted sequences acquired on axial plane covering the pelvis, the thigh, and the leg with contiguous slices. Each muscle was examined through its whole extension using a grading system that allows a semiquantitative evaluation of fatty infiltration. Thigh muscles were also grouped in anterior, posterior, and medial compartment for classification of global atrophy. The results showed a large variability in both type 2 and type 3 spinal muscular atrophy, with a various degree of proximal to distal gradient. Some muscles, such us the adductor longus and gracilis were always selectively spared. In all patients, the involvement was a combination of muscle atrophy and muscle infiltration. The variability observed may help to better understand both natural history and response to new treatments.


Asunto(s)
Músculo Esquelético/diagnóstico por imagen , Músculo Esquelético/patología , Atrofia Muscular Espinal/diagnóstico por imagen , Atrofia Muscular Espinal/patología , Adiposidad/fisiología , Adolescente , Adulto , Atrofia/patología , Niño , Preescolar , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Músculo Esquelético/metabolismo , Atrofia Muscular Espinal/metabolismo , Estudios Prospectivos , Atrofias Musculares Espinales de la Infancia/diagnóstico por imagen , Atrofias Musculares Espinales de la Infancia/metabolismo , Atrofias Musculares Espinales de la Infancia/patología , Adulto Joven
19.
Radiol Med ; 124(7): 628-635, 2019 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-30852791

RESUMEN

OBJECTIVE: To assess whether structured reports (SRs) of MRI in patients with inherited neuromuscular disorders (IND) provide more clinically relevant information than non-structured reports (NSRs) and whether neuroradiologists' expertise affects completeness of reports. MATERIAL AND METHODS: Lower limbs' MRI reports of patients with IND produced by neuroradiologists with different level of expertise (> 15 years vs. < 15 years of experience in reading IND-MRI) before and after implementation of a SR template were included. Reports were assessed for the presence of 9 key features relevant for IND management. Reports and images were evaluated by neurologists who assessed: disease-specific muscular involvement pattern; presence of sufficient information to order the appropriate genetic/diagnostic tests; presence of sufficient information to make therapeutic decision/perform biopsy and necessity to review MRI images. Mann-Whitney and Fisher's exact tests were used to compare the number of key features for NSR and SR and neurologists' answers for reports produced by neuroradiologists with different experience. RESULTS: Thirty-one SRs and 101 NSRs were reviewed. A median of 8 and 6 key features was present in SR and NSR, respectively (p value < 0.0001). When reports were produced by less expert neuroradiologists, neurologists recognized muscular involvement pattern, had sufficient information for clinical decision-making/perform biopsy more often with SR than NSR (p values: < 0.0001), and needed to evaluate images less often with SR (p value: 0.0001). When reports produced by expert neuroradiologists were evaluated, no significant difference in neurologists' answers was observed. CONCLUSION: SR of IND-MRI contained more often clinically relevant information considered important for disease management than NSR. Radiologist's expertise affects completeness of NSR reports.


Asunto(s)
Extremidad Inferior , Imagen por Resonancia Magnética/métodos , Registros Médicos/normas , Enfermedades Neuromusculares/diagnóstico por imagen , Adolescente , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos
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