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BACKGROUND: Juvenile Xanthogranuloma (JXG) is a non-Langerhans cell histiocytosis, occurring mainly in infancy. With an extracutaneous lesion, its diagnosis is difficult, because of a wide clinical spectrum. Here we demonstrate and characterize imaging features of 11 patients with JXG of the head and neck in various locations. MATERIAL AND METHODS: We recorded clinical data and reviewed all imaging studies of 11 patients with JXG of the head and neck. Ultrasonography (US) alone was performed in 1 patient; MRI alone in 6 patients; US and MRI in 1 patient; and US, CT, and MRI in 3 patients. We evaluated the following characteristics in all studies: location and number of lesions, echogenicity and vascularization on US, density on CT, signal intensity on T 1 - and T 2 -weighted images, ADC and enhancement on MRI, and tumor boundaries and bone involvement. RESULTS: Lesions were well-defined in 9 cases, and bone erosion was present in 2. On US, lesions were hypoechoic or hyperechoic and with or without vascularization. On CT, lesions were hyper-dense, with no calcification. On MRI, lesions were mildly hyper-intense or iso-intense on T 1 -weighted images in 8 of 9 patients, hypo-intense on T2-weighted images in 7 of 10, low ADC in 7 of 9, and enhancement in 7 of 7. CONCLUSIONS: The diagnosis of extra cutaneous JXG may be proposed, with the following suggestive criteria: age < 1 year, well-defined lesion, mild hyper-intensity on T 1 -weighted images, hypo-intensity on T 2 -weighted images, low ADC, enhancement, and possible adjacent bone involvement.
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Cabeza , Imagen por Resonancia Magnética , Ultrasonografía , Xantogranuloma Juvenil , Humanos , Xantogranuloma Juvenil/diagnóstico por imagen , Xantogranuloma Juvenil/patología , Masculino , Femenino , Preescolar , Lactante , Niño , Imagen por Resonancia Magnética/métodos , Ultrasonografía/métodos , Cabeza/diagnóstico por imagen , Cabeza/patología , Cuello/diagnóstico por imagen , Cuello/patología , Tomografía Computarizada por Rayos X , AdolescenteRESUMEN
AIM: To assess the prevalence of clinically urgent intracranial pathology (CUIP) in children visiting the emergency department with a complex febrile seizure (CFS). METHODS: Retrospective cohort review. We analysed the visits of patients for a CFS from January 2007 to December 2011 in seven paediatric emergency departments. Our main outcomes were the proportions of CUIP diagnosed between day 0 and 1 and within 30 days after the index visit. RESULTS: From 1 183 487 visits, 839 were for a CFS and 130 (15.5%) of these had a neuroimaging performed within 30 days (CT scan for 75 visits [8.9%], MRI for 30 visits [3.6%] and both for 25 visits [3.0%]). Three CUIP were diagnosed between day 0 and 1 (0.4% [CI-95%: 0.1-1.3]), 5 within 30 days after the index visit (0.7% [CI-95%: 0.2-1.7]) but none among the 630 visits of children presenting with a normal neurological clinical examination (0% [95% CI: 0.0-0.7]), nor among the 468 presenting only with multiple seizure (0% [95% CI: 0.0-1.0]). CONCLUSION: In children with a CFS, CUIP is rare event in the subgroup of children with a normal neurological clinical examination and in those with brief generalised multiple seizures.
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Convulsiones Febriles , Niño , Estudios Transversales , Servicio de Urgencia en Hospital , Humanos , Lactante , Neuroimagen , Estudios Retrospectivos , Convulsiones/diagnóstico por imagen , Convulsiones/epidemiología , Convulsiones Febriles/diagnóstico por imagen , Convulsiones Febriles/epidemiologíaRESUMEN
PURPOSE: The objective of our study was to evaluate the impact of an automatic tube potential selection (ATPS) on the delivered dose and image quality in unenhanced head computed tomography (CT) scans of infants. MATERIALS AND METHODS: Unenhanced head CT scans were acquired before and after the introduction of an ATPS in full automatic mode in two groups of 20 patients under one year of age. The delivered dose (CDTIvol) as the quantitative (contrast-to-noise ratio) and qualitative (based on the European CT criteria) image quality were compared on the supra- and infratentorial regions by three senior pediatric radiologists. Mann-Whitney and Fisher exact tests were performed. An interobserver Fleiss's kappa agreement was calculated for each criterion. RESULTS: The use of an ATPS allowed a significant reduction in the delivered dose (-21%, p=0.0005) with no significant difference of the contrast-to-noise ratio in supra- (-5%, p=0.21) and infratentorial regions (+16%, p=0.96). In all cases, dose reduction was obtained with the same value of 100kV. It maintained a good qualitative image quality (e.g., differentiation between gray and white matter in supra-tentorial region: p=0.470). The interobserver Fleiss's kappa agreements were good to excellent. CONCLUSION: ATPS is a tool that can significantly reduce the delivered dose by choosing the most appropriate tube voltage while maintaining image quality in unenhanced head CT scans of infants.
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Encéfalo/diagnóstico por imagen , Encéfalo/patología , Medios de Contraste/administración & dosificación , Aumento de la Imagen/métodos , Tomografía Computarizada por Rayos X/métodos , Humanos , Lactante , Variaciones Dependientes del Observador , Relación Señal-RuidoRESUMEN
Neuroplacentology is an expanding field of interest that addresses the placental influence on fetal and neonatal brain lesions and on further neurodevelopment. The objective of this study was to clarify the link between placental pathology and perinatal arterial ischemic stroke (PAIS). Prior publications have reported different types of perinatal stroke with diverse methodologies precluding firm conclusions. We report here the histological placental findings in a series of 16 neonates with radiologically confirmed PAIS. Findings were grouped into 3 categories of lesions: (1) inflammation, (2) placental and fetal hypoxic lesions, and (3) placentas with a high birthweight/placenta weight ratio. Matched control placentas were compared to the pathological placentas when feasible. The eight term singleton placentas were compared to a series of 20 placentas from a highly controlled amniotic membrane donation program; in three twin pregnancies, the placental portions from the affected twin and unaffected co-twin were compared. Slightly more than half (9/16, 56%) had histopathological features belonging to more than one category, a feature shared by the singleton control placentas (13/20, 65%). More severe and extensive lesions were however observed in the pathological placentas. One case occurring in the context of SARS-CoV-2 placentitis further expands the spectrum of COVID-related perinatal disease. Our study supports the assumption that PAIS can result from various combinations and interplay of maternal and fetal factors and confirms the value of placenta examination. Yet, placental findings must be interpreted with caution given their prevalence in well-designed controls.
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Accidente Cerebrovascular Isquémico , Placenta , Humanos , Femenino , Embarazo , Placenta/patología , Accidente Cerebrovascular Isquémico/patología , Recién Nacido , COVID-19/patología , COVID-19/complicaciones , Adulto , MasculinoRESUMEN
BACKGROUND: Mediastinal involvement (MI) in Langerhans cell histiocytosis (LCH) has been rarely reported. Here, we describe the clinical, radiological, and biological presentation, and the outcome of childhood LCH with MI. METHOD: From the French LCH register, which includes 1,423 patients aged less than 18 years, we retrieved the medical charts of patients with mediastinal enlargement detected on chest X-rays. RESULTS: Thirty-seven patients were retrieved, including 18 males; median age of diagnosis was 0.7 years, and median follow-up time was 6.2 years. The prevalence of MI varied with the age at diagnosis, ranging from 7% below 1 year old to less than 1% at >5 years. Thirteen cases (35%) were diagnosed because of MI-related symptoms, including respiratory distress (N = 4), superior venous cava syndrome (N = 2), and/or cough and polypnea (N = 10). CT scans performed in 32 cases at diagnosis showed tracheal compression (N = 5), cava thrombosis (N = 2), and/or calcification (N = 16). All patients presented multi-system disease at LCH diagnosis, and 35/37 were initially treated with vinblastine and corticosteroids. Death occurred in five cases, due to MI (N = 1) or hematological refractory involvement (N = 4). The overall 5-year survival was 87.1%, and immunodeficiency was not detected as a sequel. CONCLUSIONS: MI in LCH mainly occurs in young children, and diagnosis was based on CT showing thymus enlargement and calcifications.
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Histiocitosis de Células de Langerhans/patología , Ganglios Linfáticos/patología , Timo/patología , Niño , Preescolar , Estudios de Cohortes , Femenino , Estudios de Seguimiento , Francia , Humanos , Lactante , Masculino , Mediastino/patologíaRESUMEN
A wide spectrum of disorders involves the parotid glands, in infancy and childhood. Acute or chronic inflammatory/infectious diseases are predominant. The first branchial cleft anomalies are congenital lesions that typically manifest during childhood. Tumor lesions are more likely to be benign, with infantile hemangioma the most common in infancy and pleomorphic adenoma the most frequent in childhood. Malignant tumors are uncommon, with mucoepidermoid carcinoma the least rare. Infiltrative parotid diseases are rare and have some pediatric clinical specificities. These common and uncommon disorders of parotid glands during childhood and their imaging characteristics are reviewed.
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BACKGROUND: Long-term pulmonary sequelae, including 1-year thoracic computed tomography (CT) sequelae of paediatric acute respiratory distress syndrome (ARDS) remain unknown. The purpose of the study was to determine pulmonary abnormalities in child survivors of pulmonary (p-ARDS) and extra-pulmonary ARDS (ep-ARDS) 1 year after paediatric intensive care unit discharge (PICUD). METHODS: Prospective multicentre study in four paediatric academic centres between 2005 and 2014. Patients with ARDS were assessed 1 year after PICUD with respiratory symptom questionnaire, thoracic CT and pulmonary function tests (PFT). RESULTS: 39 patients (31 p-ARDS) aged 1.1-16.2 years were assessed. Respiratory symptoms at rest or exercise and/or respiratory maintenance treatment were reported in 23 (74%) of children with p-ARDS but in 1 (13%) of those with ep-ARDS. Thoracic CT abnormalities were observed in 18 (60%) of children with p-ARDS and 4 (50%) of those with ep-ARDS. Diffuse and more important CT abnormalities, such as ground glass opacities or mosaic perfusion patterns, were observed in 5 (13%) of children, all with p-ARDS. PFT abnormalities were observed in 30 (86%) of patients: lung hyperinflation and/or obstructive pattern in 12 (34%) children, restrictive abnormalities in 6 (50%), mild decrease in diffusing capacity in 2 (38%) and 6-min walking distance decrease in 11 (73%). Important PFT abnormalities were observed in 7 (20%) children, all with p-ARDS. Increasing driving pressure (max plateau pressure-max positive end-expiratory pressure) was correlated with increasing CT-scan abnormalities and increasing functional residual capacity (more hyperinflation) (p < 0.005). CONCLUSIONS: Children surviving ARDS requiring mechanical ventilation present frequent respiratory symptoms, significant CT-scan and PFT abnormalities 1 year after PICUD. This highlights the need for a systematic pulmonary assessment of these children. Trial registration The study was registered on Clinical Trials.gov PRS (ID NCT01435889).
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OBJECTIVE: The goal of the study is to investigate the association of pertinent preoperative temporal bone computed tomography (CT) and brain magnetic resonance imaging (MRI) results and intraoperative surgical findings and complications of pediatric cochlear implantation reported in academic settings. METHODS: This is a retrospective review of cochlear implant patients who received a pre-operative temporal bone CT and MRI of the brain between 2005 and 2012 at academic pediatric otolaryngology practices within children's hospitals in the United States and France. Scans were reviewed in a double-blind fashion and compared to intraoperative findings. RESULTS: 91 children were analyzed (mean age 5.54 +/- 0.58 years). A small facial recess identified on CT was associated with difficult insertion of electrodes (P = 0.0003). A prominent sigmoid sinus noted on CT was associated of difficult insertion of electrodes (P = 0.01), iatrogenic tegmen dehiscence (P = 0.005), as well as difficult round window access (P = 0.025). No specific CT finding was found to be associated with external auditory canal injury, perilymphatic gusher, or iatrogenic facial nerve injury. MRI brain and internal auditory canal findings were not predictive of surgical outcomes. CONCLUSIONS: Preoperative CT and MRI remain an important planning tool for pediatric cochlear implantation, particularly in academic institutions. The findings of our study demonstrate that a detailed assessment of both preoperative CT and MRI are valuable for teaching and surgical planning.
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Implantación Coclear , Implantes Cocleares , Niño , Preescolar , Humanos , Imagen por Resonancia Magnética , Estudios Retrospectivos , Tomografía Computarizada por Rayos XRESUMEN
PURPOSE: To assess the feasibility of magnetic resonance imaging (MRI) enhanced with ultrasmall superparamagnetic particles of iron oxide (USPIO) for assessing excitotoxic brain lesions in an experimental model of neonatal periventricular white matter (PWM) lesions. MATERIALS AND METHODS: Brain lesions were induced by intracerebral injection of ibotenate in 14 newborn rats. Pre- and post-USPIO T2-weighted MRI was performed in seven of them (group A) and in five control newborns (group C). In seven newborns with induced cerebral lesions, USPIO-enhanced MRI was not performed (group B). We compared the signal intensity of the lesion to the contralateral unaffected brain (lesion-to-brain contrast, LBC) and the lesion signal-to-noise ratio (SNR) before and after USPIO injection. MR imaging was correlated with histology. RESULTS: USPIO injection significantly (P<0.05) decreased LBC and SNR of brain lesion but induced no changes in normal controls. The densities of macrophages and iron-laden cells were higher on the lesion side than on the contralateral side (P<0.05). Neither lesion size nor the surrounding macrophage infiltrate was significantly different between groups A and B. CONCLUSION: Post-USPIO T2-weighted MRI demonstrated negative enhancement of neonatal excitotoxic brain lesion. USPIO injection does not appear to exacerbate brain lesions.
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Dextranos , Modelos Animales de Enfermedad , Ácido Iboténico , Imagen por Resonancia Magnética/métodos , Nanopartículas de Magnetita , Malformaciones del Desarrollo Cortical/inducido químicamente , Malformaciones del Desarrollo Cortical/patología , Fibras Nerviosas Mielínicas/patología , Animales , Animales Recién Nacidos , Medios de Contraste , Humanos , Aumento de la Imagen/métodos , Neurotoxinas , Ratas , Ratas Sprague-Dawley , Reproducibilidad de los Resultados , Sensibilidad y EspecificidadRESUMEN
Idiopathic nephrotic syndrome is the most frequent glomerular disease during childhood. Although immunosuppressive agents are usually effective, some severe cases remain difficult to treat. We describe a female patient with secondary steroid-resistant nephrotic syndrome who no longer responded to conventional treatment. Owing to cyclosporine toxicity, rituximab was administered. Three days after treatment the patient's clinical condition dramatically worsened and she developed acute respiratory distress. Despite all means used to treat her, she died 5 weeks after rituximab infusion. A pulmonary biopsy showed extensive fibrosis, while the alveolar epithelium was no longer visible.
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Anticuerpos Monoclonales/efectos adversos , Factores Inmunológicos/efectos adversos , Síndrome Nefrótico/tratamiento farmacológico , Fibrosis Pulmonar/inducido químicamente , Anticuerpos Monoclonales de Origen Murino , Niño , Resultado Fatal , Femenino , Humanos , Síndrome Nefrótico/complicaciones , Síndrome Nefrótico/patología , Fibrosis Pulmonar/patología , Fibrosis Pulmonar/fisiopatología , Insuficiencia Respiratoria/inducido químicamente , Insuficiencia Respiratoria/patología , Insuficiencia Respiratoria/fisiopatología , RituximabRESUMEN
PURPOSE: Off-label use of vemurafenib (VMF) to treat BRAFV600E mutation-positive, refractory, childhood Langerhans cell histiocytosis (LCH) was evaluated. PATIENTS AND METHODS: Fifty-four patients from 12 countries took VMF 20 mg/kg/d. They were classified according to risk organ involvement: liver, spleen, and/or blood cytopenia. The main evaluation criteria were adverse events (Common Terminology Criteria for Adverse Events [version 4.3]) and therapeutic responses according to Disease Activity Score. RESULTS: LCH extent was distributed as follows: 44 with positive and 10 with negative risk organ involvement. Median age at diagnosis was 0.9 years (range, 0.1 to 6.5 years). Median age at VMF initiation was 1.8 years (range, 0.18 to 14 years), with a median follow-up of 22 months (range, 4.3 to 57 months), whereas median treatment duration was 13.9 months (for 855 patient-months). At 8 weeks, 38 complete responses and 16 partial responses had been achieved, with the median Disease Activity Score decreasing from 7 at diagnosis to 0 (P < .001). Skin rash, the most frequent adverse event, affected 74% of patients. No secondary skin cancer was observed. Therapeutic plasma VMF concentrations (range, 10 to 20 mg/L) seemed to be safe and effective. VMF discontinuation for 30 patients led to 24 LCH reactivations. The blood BRAFV600E allele load, assessed as circulating cell-free DNA, decreased after starting VMF but remained positive (median, 3.6% at diagnosis, and 1.6% during VMF treatment; P < .001) and was associated with a higher risk of reactivation at VMF discontinuation. None of the various empirical therapies (hematopoietic stem-cell transplantation, cladribine and cytarabine, anti-MEK agent, vinblastine, etc) used for maintenance could eradicate the BRAFV600E clone. CONCLUSION: VMF seemed safe and effective in children with refractory BRAFV600E-positive LCH. Additional studies are needed to find effective maintenance therapy approaches.
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Histiocitosis de Células de Langerhans/tratamiento farmacológico , Inhibidores de Proteínas Quinasas/uso terapéutico , Proteínas Proto-Oncogénicas B-raf/antagonistas & inhibidores , Vemurafenib/uso terapéutico , Adolescente , Factores de Edad , Niño , Preescolar , Resistencia a Medicamentos , Europa (Continente) , Femenino , Histiocitosis de Células de Langerhans/diagnóstico , Histiocitosis de Células de Langerhans/genética , Humanos , Lactante , Masculino , Mutación , Inhibidores de Proteínas Quinasas/efectos adversos , Proteínas Proto-Oncogénicas B-raf/genética , Índice de Severidad de la Enfermedad , Transducción de Señal , Factores de Tiempo , Resultado del Tratamiento , Vemurafenib/efectos adversosRESUMEN
Congenital ureteropelvic junction obstruction (UPJO) is the most common cause of upper urinary tract obstruction in children. It is generally diagnosed in the routine work-up during antenatal period and is characterized by spontaneous recovery. It can be associated with urolithiasis; hence further investigation should be carried out. We report the case of a 15-year-old boy, who is known to have right UPJO, presented with right renal colic and discovered to have bilateral kidney stones. Further studies showed primary hyperparathyroidism and genetic analysis revealed a CDC73 mutation (initially HRPT2). We believe that association of UPJO and PHPT is a rare coincidence that can be linked. Careful work-up of children with UPJO and urolithiasis is recommended to exclude an underlying metabolic disease. Surgical correction can be evitable as treatment of the primary cause can lead to complete dissolution of kidney stones and improvement of the medical condition.
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OBJECTIVES: Extracorporeal membrane oxygenation support is indicated in severe and refractory respiratory or circulatory failures. Neurological complications are typically represented by acute ischemic or hemorrhagic lesions, which induce higher morbidity and mortality. The primary goal of this study was to assess the prognostic value of cerebral tissue oxygen saturation (StcO2) on mortality in neonates and young infants treated with ECMO. A secondary objective was to evaluate the association between StcO2 and the occurrence of cerebral lesions. STUDY DESIGN: This was a prospective study in infants < 3 months of age admitted to a pediatric intensive care unit and requiring ECMO support. MEASUREMENTS: The assessment of cerebral perfusion was made by continuous StcO2 monitoring using near-infrared spectroscopy (NIRS) sensors placed on the two temporo-parietal regions. Neurological lesions were identified by MRI or transfontanellar echography. RESULTS: Thirty-four infants <3 months of age were included in the study over a period of 18 months. The ECMO duration was 10±7 days. The survival rate was 50% (17/34 patients), and the proportion of brain injuries was 20% (7/34 patients). The mean StcO2 during ECMO in the non-survivors was reduced in both hemispheres (p = 0.0008 right, p = 0.03 left) compared to the survivors. StcO2 was also reduced in deceased or brain-injured patients compared to the survivors without brain injury (p = 0.002). CONCLUSION: StcO2 appears to be a strong prognostic factor of survival and of the presence of cerebral lesions in young infants during ECMO.
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Lesiones Encefálicas/diagnóstico , Encéfalo/metabolismo , Oxigenación por Membrana Extracorpórea , Oxígeno/análisis , Espectroscopía Infrarroja Corta , Encéfalo/diagnóstico por imagen , Lesiones Encefálicas/mortalidad , Femenino , Humanos , Lactante , Recién Nacido , Unidades de Cuidado Intensivo Neonatal , Imagen por Resonancia Magnética , Masculino , Oxígeno/metabolismo , Pronóstico , Estudios Prospectivos , Tasa de Supervivencia , UltrasonografíaRESUMEN
Partial absence of the sacrum is a rare congenital defect that also occurs as an autosomal-dominant trait, whereas imperforate/ectopic anus is a relatively common malformation, usually observed in multiple congenital anomalies syndromes. We report on a girl born to healthy consanguineous parents (first cousins once removed) with anal imperforation and associated rectovaginal fistula and partial sacral agenesis. Facial dysmorphism included a high forehead, epicanthic folds, downslanting palpebral fissures, hypertelorism and a depressed nasal root. Brain MRI showed a bilateral opercular dysplasia with a unilateral (right) pachygyria; MRI and X-ray imaging of the spine disclosed a tethered cord associated with partial sacral agenesis. She showed a moderate developmental delay. Ophthalmologic examination evidenced bilateral microphthalmos and relative microcornea. Cytogenetic studies in our patient disclosed a pure de novo 6q25.3 --> qter deletion. By genotype analysis, we detected in our patient a maternal allele loss encompassing D6S363 and D6S446. Pure distal 6q deletion is a rare anomaly, reported in association with sacral/anorectal malformations (sacral agenesis, anal imperforation/ectopia) and never with cortical dysplasia. Pooling deletion mapping information in patients with pure terminal and interstitial 6q deletion allowed us to define a critical region spanning 0.3 Mb between the markers D6S959 and D6S437 for sacral/anal malformations. We hypothesize that haploinsufficiency for a gene within the deleted region may impair normal development of caudal structures, possibly acting on the notochordal development. European Journal of Human Genetics (2006) 14, 971-974. doi:10.1038/sj.ejhg.5201635; published online 17 May 2006.
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Anomalías Múltiples/genética , Ano Imperforado/genética , Deleción Cromosómica , Cromosomas Humanos Par 6 , Sacro/anomalías , Anomalías Múltiples/diagnóstico , Encéfalo/anomalías , Encéfalo/diagnóstico por imagen , Consanguinidad , Femenino , Humanos , Imagen por Resonancia Magnética , Repeticiones de Microsatélite , Linaje , RadiografíaRESUMEN
Ileosigmoid knotting occurs when the ileum wraps around the base of an elongated sigmoid colon. It is rare in developed countries, especially in children. The authors report the first case of ileosigmoid knotting in a Caucasian French girl.
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Colon Sigmoide , Enfermedades del Íleon , Femenino , Francia , Humanos , Enfermedades del Íleon/diagnósticoRESUMEN
INTRODUCTION: Langerhans cell histiocytosis (LCH) is a heterogeneous disease, involving the accumulation of langerhans cells in various organs. The physician's perception of the disease varies considerably depending on their experience, the presentation of the disease or the short-term treatment outcome. As this disease is very rare, only a limited number of large surveys exist in the literature and many aspects of the management of patients remain obscure or controversial. AREAS COVERED: An expert opinion on the diagnosis and medical management of LCH is presented in this paper. The diagnostic procedures, including differential diagnosis, initial clinical workup and criteria for initiating therapy are reviewed, as well as disease evaluation criteria and therapeutic approaches. Controversial issues in the medical management of LCH patients (aged less than 18 years) are also briefly discussed. EXPERT OPINION: Further fundamental and clinical research is still needed in this field. Progress may be expected from collaborations organized at national and international levels, among collaborative groups and expert networks. Collections of tissue and blood samples in biobanks must also be organized. New international protocols will be opened to patient accrual and represent an opportunity to further develop global research.
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Histiocitosis de Células de Langerhans/diagnóstico , Histiocitosis de Células de Langerhans/tratamiento farmacológico , Diagnóstico Diferencial , Medicina Basada en la Evidencia , Humanos , Valor Predictivo de las Pruebas , Recurrencia , Índice de Severidad de la Enfermedad , Resultado del TratamientoRESUMEN
OBJECTIVE: Brain iron deficiency has been supposed to be involved in the pathophysiology of ADHD. Available studies assessing iron in ADHD are based on serum ferritin, a peripheral marker of iron status. To what extent serum ferritin correlates with brain iron (BI) is unclear. The main aim of this study was to compare BI, estimated with magnetic resonance imaging (MRI) in the putamen, pallidum, caudate, and thalamus, between children with and without ADHD. The secondary aim was to assess the correlation between serum ferritin and BI levels. METHODS: Thirty-six children (18 with and 18 without ADHD, the latter including nine healthy controls and nine psychiatric controls) completed MRI and blood sampling. Brain iron levels were estimated by imaging T2*. RESULTS: Children with ADHD showed significantly lower estimated BI in right and left thalamus compared to healthy controls. Estimated BI did not differ significantly between children with ADHD and psychiatric controls. Children with ADHD had significantly lower levels of serum ferritin than healthy as well as psychiatric controls. Serum ferritin and T2* values did not correlate significantly in most regions. CONCLUSIONS: Low iron in the thalamus may contribute to ADHD pathophysiology.
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Trastorno por Déficit de Atención con Hiperactividad/metabolismo , Química Encefálica , Ferritinas/sangre , Deficiencias de Hierro , Adolescente , Trastorno por Déficit de Atención con Hiperactividad/fisiopatología , Estudios de Casos y Controles , Núcleo Caudado/química , Niño , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Proyectos Piloto , Putamen/química , Tálamo/químicaRESUMEN
Apnoea is a rare but well-known clinical presentation of the Chiari type I malformation. It may be either obstructive or central in nature, and has been described in children, adolescents and adults. Here, we report a 4-month-old infant who presented with frequent central sleep apnoeas leading to the diagnosis of a Chiari type I malformation. Surgical repair resulted in complete resolution of the symptoms, normal respiratory parameters during sleep and normal psychomotor development. This case illustrates a very early presentation of the Chiari type I malformation with central apnoeas and suggests that this aetiology should be considered in the differential diagnosis of central apnoeas in infants, especially when they are associated with other neurological sign or symptom.