RÉSUMÉ
The limping child frequently represents a diagnostic challenge. The differential diagnosis is broad and should include vitamin C deficiency. Scurvy, resulting from vitamin C deficiency, is the oldest-known nutritional disorder. Despite its rarity in developed countries, scurvy has been increasingly reported in recent years in pediatric patients, particularly those with autism or neurological disabilities. In the present retrospective study, we describe the clinical, laboratory, and radiological features of 8 patients diagnosed with scurvy in the Pediatrics Unit of Meyer Children's University Hospital, between January 2016 and December 2021. The majority (87%) were males, and the median age was 3.7 years. Half of the patients had comorbidities known to be risk factors for scurvy, while the remaining patients were previously healthy. All the children were admitted for musculoskeletal symptoms, ranging from lower limb pain (87%) to overt limping (87%). Mucocutaneous involvement was observed in 75% cases. Microcytic anemia and elevated inflammatory markers were common laboratory findings. Bone radiographs, performed on all patients, were often interpreted as normal at first, with osteopenia (62%) as the most frequent finding; notably, after re-examination, they were reported as consistent with scurvy in four patients. The most common magnetic resonance imaging findings were multifocal symmetrical increased signal on STIR sequence within metaphysis, with varying degrees of bone marrow enhancement, adjacent periosteal elevation and soft tissue swelling. Differential diagnosis was challenging and frequently required invasive diagnostic procedures like bone marrow biopsy, performed in the first three patients of our series. The median time frame between clinical onset and the final diagnosis was 35 days. Notably, the interval times between admission and diagnosis become progressively shorter during the study period, ranging from 44 to 2 days. Treatment with oral vitamin C led to improvement/resolution of symptoms in all cases. In conclusion, scurvy should be considered in the differential diagnosis in a limping child, performing a detailed dietary history and careful physical examination, looking for mucocutaneous lesions. A quick and correct diagnostic path avoids invasive diagnostic procedures and reduces the risk of long-term complications.
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Ileocolic intussusception is a common cause of bowel obstruction. When spontaneous reduction does not occur, non-operative management through enema reduction is necessary. Despite the evidence indicating that sedatives favor success in the reduction, their use is still not a common practice. To determine if midazolam (MDZ) before enema improves the rate of procedure success, we retrospectively reviewed charts of patients admitted to two Italian pediatric emergency departments. Outcome measures were the success rate of the enema, recurrence, and need for surgery. Patients were grouped according to the use of MDZ or not, before hydrostatic reduction attempt. We included 69 and 37 patients in the MDZ and non-MDZ groups, respectively. The two groups did not differ in demographics, clinical characteristics, and ultrasound findings. Intussusception reduction after the first enema attempt occurred in 75% (MDZ group) and 32.4% (non-MDZ group) of patients (P < .001); 27.9% (MDZ group) and 77.8% (non-MDZ group) of patients underwent surgery (P < .001). Among them, spontaneous reduction of intussusception during the induction of general anesthesia occurred in 31.6% and 42.9% of patients, respectively (P .43). Multivariate logistic regression analysis showed that only MDZ had a positive effect on the result of the enema (OR 7.602, 95%CI 2.669-21.652, P < .001). CONCLUSION: Procedural sedation with MDZ for enema reduction of intussusception can increase the success rate and lead to a better management of patients. WHAT IS KNOWN: ⢠Despite the evidence of the usefulness of sedatives in the reduction of intussusception, their use is still not a common practice. WHAT IS NEW: ⢠Midazolam during enema reduction of intussusception can increase the success rate and consequently lead to better management of patients.
Sujet(s)
Maladies de l'iléon , Intussusception , Enfant , Lavement (produit)/effets indésirables , Humains , Hypnotiques et sédatifs/usage thérapeutique , Maladies de l'iléon/étiologie , Maladies de l'iléon/chirurgie , Nourrisson , Intussusception/étiologie , Intussusception/thérapie , Midazolam/usage thérapeutique , Prémédication , Études rétrospectives , Résultat thérapeutiqueRÉSUMÉ
Alveolar soft part sarcomas (ASPSs) are rare malignant tumors representing â¼1% of all soft tissue sarcomas. Most ASPS occurring in the central nervous system are metastases. In contrast, primary intracranial ASPSs are extremely rare and only 8 cases have been previously reported in English literature. Here, we report a case of primary alveolar soft part sarcoma in a 16-year-old female patient with no evidence of primary extracranial tumors. Histologically this case fulfilled the criteria of ASPS, and a molecular confirmation has been archived. To date, only 9 primary intracranial ASPS cases, including ours, have been reported in the literature. This report highlights the clinical and pathological characteristics, differential diagnosis, and molecular analysis of primary ASPS of the central nervous system.
Sujet(s)
Sarcome alvéolaire des parties molles , Tumeurs des tissus mous , Adolescent , Diagnostic différentiel , Femelle , Humains , Sarcome alvéolaire des parties molles/diagnostic , Sarcome alvéolaire des parties molles/anatomopathologie , Sarcome alvéolaire des parties molles/chirurgie , Tumeurs des tissus mous/anatomopathologieRÉSUMÉ
Cerebellar hemorrhage is rare in term newborns and is most often seen after traumatic birth. Lifelong sequelae include motor and cognitive impairment. We report the uncommon case of a late preterm infant born by spontaneous delivery who showed right peripheral facial palsy at 24 hours of life. Cranial ultrasound showed lateral ventricles dilatation and a diffuse hyperechoic round lesion in the right cerebellar hemisphere. The computed tomography scan confirmed a hemorrhagic lesion in the right cerebellar hemisphere and in the vermis with midline shift and intraventricular bleeding. Ommaya reservoir was inserted and used for a few days. The facial palsy gradually recovered to a complete remission after 6 weeks. Follow-up examinations at 12 and 18 months evidenced infant's delayed motor function, hyperreflexia, tremors, and speech delay.
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BACKGROUND: Arthritis is often an underestimated extraintestinal manifestation in pediatric inflammatory bowel disease (IBD), including sacroiliitis, whose early signs are well detectable at magnetic resonance imaging (MRI). Magnetic resonance enterography (MRE) is an accurate imaging modality for pediatric IBD assessment. We studied the possibility to detect signs of sacroiliac inflammation in a group of children with IBD who underwent MRE for gastrointestinal disease evaluation. METHODS: We retrospectively reviewed MRE scans performed in pediatric patients with IBD. We looked for signs of sacroiliitis taking the ASAS (Assessment of SpondyloArthritis international Society) criteria as a model. Presence of bone marrow edema (using T2W sequences with fat suppression), diffusion restriction in Diffusion Weighted Imaging (DWI) or Diffusion Weighted Imaging with Background Suppression (DWIBS), and dynamic contrast enhancement were evaluated. Each SI joint was divided into 4 quadrants: upper iliac, lower iliac, upper sacral, and lower sacral. Two blinded observers with experience in pediatric and skeletal imaging independently evaluated the images. Cases upon which there was a disagreement were evaluated by the two reviewing radiologists and a third radiologist with similar experience together. RESULTS: We enrolled 34 patients (24 males and 10 females, with mean age at scanning 14.3 years, median 15.3 years; 2 affected by ulcerative colitis, 32 by Crohn's disease) for a total of 59 examinations performed at the time of their first diagnosis or at symptom exacerbations. No patient complained of musculoskeletal symptoms, neither had pathological findings at articular examination. At the time of MRE 25 patients were under treatment for their IBD. Five patients had radiological signs of SI inflammation at MRE, albeit of mild degree. All patients with SI joint edema also had a restricted diffusion in DWIBS or DWI and almost everyone had contrast media uptake. CONCLUSIONS: Sacroiliitis is one of the extraintestinal manifestation associated with IBD; it is often asymptomatic and clinically underdetected, with an unrelated progression with respect to the underlying IBD. MRE offers the possibility to study SI joints in young patients with IBD who undergo MRE for the investigation of their intestinal condition. Furthermore, we observed that gadolinium enhancement does not improve diagnostic specificity in sacroiliiitis detection.
Sujet(s)
Rectocolite hémorragique/imagerie diagnostique , Maladie de Crohn/imagerie diagnostique , Oedème/imagerie diagnostique , Sacro-iliite/imagerie diagnostique , Adolescent , Produits biologiques/usage thérapeutique , Maladies de la moelle osseuse/imagerie diagnostique , Rectocolite hémorragique/complications , Rectocolite hémorragique/traitement médicamenteux , Produits de contraste , Maladie de Crohn/traitement médicamenteux , Imagerie par résonance magnétique de diffusion , Femelle , Gadolinium , Glucocorticoïdes/usage thérapeutique , Humains , Immunosuppresseurs/usage thérapeutique , Maladies inflammatoires intestinales/complications , Maladies inflammatoires intestinales/imagerie diagnostique , Imagerie par résonance magnétique , Mâle , Études rétrospectives , Sacro-iliite/complications , Sensibilité et spécificitéRÉSUMÉ
[This corrects the article DOI: 10.1055/s-0040-1715162.][This corrects the article DOI: 10.1055/s-0040-1715162.].
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OBJECTIVE: The aim of the study was to establish an apparent diffusion coefficient (ADC) cut-off value to classify active and non-active lesions in inflammatory bowel disease. METHODS: We reviewed 167 paediatric magnetic resonance enterographies executed for suspected inflammatory bowel disease by using a 1.5- and 3-T scanner. We assessed the presence and activity of the disease by using morphologic and functional parameters such as the ADC. Each patient could have more than 1 examinations. Quantitative assessment of disease activity in the ADC map was measured placing 3 regions of interest in the areas of highest inflammation and the mean value was calculated, patients without sign of inflammation were assessed at 2 standardised site. Ileocolonoscopy, esophagogastroduodenoscopy, surgery, and video-capsule endoscopy were used as standards of reference. RESULTS: We enrolled 34 patients and 35 examinations: radiological findings of disease were identified in 29 examinations and 44 lesions were detected. Six patients had negative results and ADC assessment was taken at the terminal ileum and cecum. A total of 56 bowel segments were included in the study. Image analysis revealed 39 active lesions (69.6%) and their ADC values were lower compared to the ones of non-active segments. For each scanner a cut-off value was found (sensitivity: 0.91, specificity: 0.89 for 1.5 T and 0.81 for 3 T). Inter-rater agreement on disease activity between ADC values and magnetic resonance enterography results and between ADC values and the standard of reference were very good. CONCLUSIONS: ADC can provide a scanner-based quantitative measurement of disease activity.
Sujet(s)
Imagerie par résonance magnétique de diffusion/méthodes , Maladies inflammatoires intestinales/anatomopathologie , Muqueuse intestinale/anatomopathologie , Adolescent , Enfant , Femelle , Humains , Iléum/imagerie diagnostique , Iléum/anatomopathologie , Maladies inflammatoires intestinales/imagerie diagnostique , Muqueuse intestinale/imagerie diagnostique , Mâle , Valeur prédictive des tests , Courbe ROC , Reproductibilité des résultats , Études rétrospectivesRÉSUMÉ
Intussusception is the most common cause of intestinal obstruction and acute abdomen in the first year of life. Approximately in the 80% of cases intussusception occurs when the last ileal loop is pulled into the cecum, passing through the ileocecal valve, and finally resulting in the displacement of cecum in the upper abdominal. It could be related with mesenteric adenitis because enlarged lymph nodes, together with peristalsis, can serve as "lead point". Other forms of intussusception are ileo-ileal and colo-colic. The aetiology in infants and adults can be very variable and most often linked with secondary causes, such as benign or malignant lesions (polyps, tumors, lymphomas, intestinal duplication cyst, Meckel's diverticulum). In this paper we describe a rare case of idiopathic ileo-ileal intussusception in a 17 year old boy. We also discuss, with a careful analysis of the literature, the diagnostic and therapeutic protocol in case of intussusception ileo-colic approved at the Meyer Children's Hospital.
Sujet(s)
Douleur abdominale/étiologie , Maladies de l'iléon/diagnostic , Intussusception/diagnostic , Adolescent , Humains , Maladies de l'iléon/thérapie , Intussusception/thérapie , MâleRÉSUMÉ
Interdural dermoid cysts (DCs) of the cavernous sinus (CS), located between the outer (dural) and inner layer (membranous) of the CS lateral wall, are rare lesions in children. The authors report on a 5-year-old boy with third cranial nerve palsy and exophthalmos who underwent gross-total removal of an interdural DC of the right CS via a frontotemporal approach. The patient had a good outcome and no recurrence at the 12-month follow-up. To the best of the authors' knowledge this is the second pediatric case of interdural DC described in the literature.
Sujet(s)
Tumeurs du cerveau/imagerie diagnostique , Tumeurs du cerveau/chirurgie , Sinus caverneux/imagerie diagnostique , Sinus caverneux/chirurgie , Kyste dermoïde/imagerie diagnostique , Kyste dermoïde/chirurgie , Humains , MâleRÉSUMÉ
OBJECTIVE: To report our single centre experience in treating 4 children affected by childhood primary central nervous system vasculitis (cPACNS) using mycophenolate mofetil (MMF). METHODS: From December 2011 to August 2015, 4 patients (3 males; age range: 9 months-13 years) affected by cPACNS were collected. Enrolled children received the following treatment protocol: acetylsalicylic acid and/or anticoagulant therapy with low molecular weight heparin (LMWH) 100 U/k BID replaced by acenocoumarol; methyl-prednisolone (30mg/kg/day for 3-5 days) followed by prednisone (2mg/kg/day), tapered and discontinued over 7-8 months; MMF used for induction therapy and subsequent maintenance phase (750-1000mg/m2 BID, half-dose for the first 10-15 days followed by full-dose). RESULTS: In all children, no relapse of cerebral vasculitis occurred during the whole follow-up period and all of them improved while in MMF treatment. Magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA), performed at 6, 9 or 12 months intervals, showed no progression or even improvement of the typical radiological findings. Medium period of MMF treatment was 29 months (range: 10-42 months). No major drug-related adverse events were documented. CONCLUSION: We report for the first time on the efficacy and safety of MMF in the induction and maintenance of clinical remission in cPACNS. Our single centre experience of MMF use in treating cPACNS seems represent an appealing, alternative and safe option in this clinical setting over a long-term follow-up.
Sujet(s)
Anti-inflammatoires/usage thérapeutique , Acide mycophénolique/usage thérapeutique , Vascularite du système nerveux central/traitement médicamenteux , Adolescent , Enfant , Enfant d'âge préscolaire , Femelle , Humains , Nourrisson , Mâle , Accident vasculaire cérébral/imagerie diagnostique , Accident vasculaire cérébral/étiologie , Vascularite du système nerveux central/complications , Vascularite du système nerveux central/imagerie diagnostiqueRÉSUMÉ
The aim of this paper is to provide indications for performing magnetic resonance enterography (MRE) in Crohn's disease (CD), the essential technical elements of MRE techniques and typical findings in patients with CD. Patients suffering from CD frequently require cross-sectional imaging. By performing MRE, it is possible to obtain results comparable to those obtained with endoscopy in terms of identifying and assessing disease activity and better than other cross-sectional imaging techniques, such as CT, in the evaluation of the fibrosis and complications of disease. The MR imaging of diffusion MR is a technique which enables medical staff to add important additional information and which may replace the use of intravenous contrast agents in the near future. Magnetic resonance enterography is an accurate tool for assessing bowel disease and the various complications associated with CD. The lack of exposure to non-ionizing radiation is an important advantage of this imaging technique, especially in the case of pediatric patients. Familiarity with common and pathognomonic imaging features of CD is essential for every clinician involved in the treatment of inflammatory bowel disease and the care of patients.
Sujet(s)
Maladie de Crohn/diagnostic , Imagerie par résonance magnétique , Diagnostic différentiel , Imagerie par résonance magnétique de diffusion/méthodes , Humains , Imagerie par résonance magnétique/méthodes , Valeur prédictive des tests , Appréciation des risques , Sensibilité et spécificité , Indice de gravité de la maladieRÉSUMÉ
BACKGROUND: Standard imaging methods in evaluating chest wall deformities, such as Pectus Excavatum (PE) in paediatric and adolescent patients, include baseline 2-view chest radiography and chest CT scan. Only few studies to date investigated the value of fast MRIin the pre operative assessment of patient affected by PE. OBJECTIVE: To evaluate the efficacy of chest fast MRI in pre-operative management of patient affected by PE. To obtain the Haller Index (HI) and Asymmetry Index (AI) from chest fast MRI protecting patients from radiation exposure. MATERIALS AND METHODS: We analyzed the data of 42 consecutive patients with severe PE who underwent minimally invasive repair between March 2007 and March 2010. All 42 patients received chest fast MRI, but only the first 5 in view of the results, were studied also with chest ultrafast CT scan. In both examinations, data at the deepest point of the depression were collected. RESULTS: Severity indices of the deformity using HI and AI, collected from CT scan and fast MRI in the first 5 patients, were comparable. In the remaining 37 fast chest MRI offered good images of the chest wall deformities with no radiation exposure, detailing anatomical information such as displacement and rotation of the heart or great vessels anomalies. CONCLUSION: This study suggests the use of chest MRI in pre operative workup for patients with PE to obtain severity indices (Haller Index and Asymmetry Index avoiding radiation exposure to paediatric patients.
Sujet(s)
Thorax en entonnoir/diagnostic , Imagerie par résonance magnétique , Soins préopératoires/méthodes , Adolescent , Enfant , Femelle , Thorax en entonnoir/imagerie diagnostique , Thorax en entonnoir/chirurgie , Humains , Mâle , Interventions chirurgicales mini-invasives , Études prospectives , Indice de gravité de la maladie , Tomodensitométrie , Jeune adulteSujet(s)
Tumeurs du cervelet/anatomopathologie , Tumeurs du cervelet/radiothérapie , Médulloblastome/radiothérapie , Médulloblastome/secondaire , Dérivation ventriculopéritonéale/effets indésirables , Chimioradiothérapie/méthodes , Enfant d'âge préscolaire , Évolution de la maladie , Issue fatale , Femelle , Humains , Hydrocéphalie/thérapie , Imagerie par résonance magnétique , Médulloblastome/anatomopathologieRÉSUMÉ
BACKGROUND: Genetic variation at NAT2 has been long recognized as the cause of differential ability to metabolize a wide variety of drugs of therapeutic use. Here, we explore the pattern of genetic variation in 12 human populations that significantly extend the geographic range and resolution of previous surveys, to test the hypothesis that different dietary regimens and lifestyles may explain inter-population differences in NAT2 variation. METHODOLOGY/PRINCIPAL FINDINGS: The entire coding region was resequenced in 98 subjects and six polymorphic positions were genotyped in 150 additional subjects. A single previously undescribed variant was found (34T>C; 12Y>H). Several aspects of the data do not fit the expectations of a neutral model, as assessed by coalescent simulations. Tajima's D is positive in all populations, indicating an excess of intermediate alleles. The level of between-population differentiation is low, and is mainly accounted for by the proportion of fast vs. slow acetylators. However, haplotype frequencies significantly differ across groups of populations with different subsistence. CONCLUSIONS/SIGNIFICANCE: Data on the structure of haplotypes and their frequencies are compatible with a model in which slow-causing variants were present in widely dispersed populations before major shifts to pastoralism and/or agriculture. In this model, slow-causing mutations gained a selective advantage in populations shifting from hunting-gathering to pastoralism/agriculture. We suggest the diminished dietary availability of folates resulting from the nutritional shift, as the possible cause of the fitness increase associated to haplotypes carrying mutations that reduce enzymatic activity.
Sujet(s)
Arylamine N-acetyltransferase/génétique , Allèles , Arylamine N-acetyltransferase/métabolisme , Évolution moléculaire , Acide folique/composition chimique , Fréquence d'allèle , Variation génétique , Génétique des populations , Génotype , Géographie , Haplotypes , Humains , Modèles génétiques , Mutation , Phénotype , Polymorphisme génétiqueRÉSUMÉ
A case of suspected lung metastases from colorectal adenocarcinoma is discussed. A diagnostic approach for follow-up of resected patients is proposed. It includes available diagnostic imaging for the characterization of metastatic pulmonary nodules together with methods for the differential diagnosis between primary malignant nodules and benign nodules.