ABSTRACT
We represent the case of a premature twin neonate born from uncomplicated pregnancy who developed seizures at the age of 24 h. Two-dimensional ultrasound and magnetic resonance imaging revealed left-sided hemimegalencephaly. Further extensive diagnostic evaluation revealed a diagnosis of Ohtahara syndrome. Resistance of the seizures to antiepileptic therapy led to hemispherotomy that was performed at the age of 10 months. Our patient is now a 4-year-old child, walking, eating without a nasogastric tube, still with right hemiparesis and lateral strabismus but without seizures.
Subject(s)
Hemimegalencephaly , Spasms, Infantile , Child, Preschool , Humans , Infant , Infant, Newborn , Hemimegalencephaly/diagnosis , Hemimegalencephaly/surgery , Hemimegalencephaly/complications , Magnetic Resonance Imaging , Seizures , Spasms, Infantile/diagnosis , Spasms, Infantile/surgery , Spasms, Infantile/complications , Treatment OutcomeABSTRACT
Neurodevelopmental disorders are a large group of disorders that affect ~ 3% of children and represent a serious health problem worldwide. Their etiology is multifactorial and includes genetic, epigenetic, and environmental causes. Mounting evidence shows the importance of genetic causes, especially genes involved in the central nervous system development. As recently discovered, the KMT5B gene is related to abnormal activities of the enzymes that regulate histone activity and gene expression during brain development. Pathogenic KMT5B gene variants lead to autosomal dominant, intellectual developmental disorder 51 (OMIM # 617788). Also, reports on patients with additional features suggest that the KMT5B gene alterations lead to multisystem involvement. Here, we report on a male patient with a severe neurodevelopmental disorder caused by a novel KMT5B gene variant inherited from his mother. The patient had severe intellectual disability, absent speech, marked autistic behavior, attention deficit hyperactivity disorder, and different clinical features, including thoracic scoliosis, dysmorphic facial features, and tall stature. In contrast, his mother, with the same KMT5B variant, had mild intellectual disability and some autistic traits (stereotype hand movement). We elucidated pathogenetic mechanisms that could influence phenotype characteristics. Our findings emphasize the importance of a comprehensive clinical and molecular approach to these patients in order to provide optimal health care.
Subject(s)
Autism Spectrum Disorder , Intellectual Disability , Neurodevelopmental Disorders , Child , Humans , Male , Intellectual Disability/genetics , Neurodevelopmental Disorders/genetics , Phenotype , Autism Spectrum Disorder/geneticsABSTRACT
BACKGROUND: This study aimed to determine the proportion of patients with sarcopenia diagnosed by MRI and compare these results to bioelectrical impedance analysis (BIA). METHODS: Children with newly diagnosed Crohn's disease (CD) who had MRI enterography (MRE) and BIA and had at least 12 months of follow-up were included. Total psoas muscle area (TPMA) and total paravertebral muscle (TPVM) were measured and compared to subjects' lean mass and the lean mass body index (LMBI) was assessed by BIA. RESULTS: 30 newly diagnosed children with CD were included (mean age 14.2 years, 53% male). Sarcopenia was found in 13 (43%) children; mean TPMA was 15.2 (1.1 SD) cm2 and TPVM 30.95 (1.7 SD) cm2. A highly positive correlation was shown for lean mass assessed by BIA and TPMA (0.706, p < 0.001) and TPVM (0.75, p < 0.001). Sarcopenia was more prevalent in boys (77% vs. 24%, p = 0.004), patients with the perianal disease (69% vs. 29%, p = 0.03), and children with sarcopenia were likely to receive anti-TNF (77% vs. 41%, p = 0.05). During the follow-up period, 16 (53%) children experienced a relapse. TPMA (HR 0.99, p = 0.018) and TPVM (HR 0.99, p = 0.031) values were statistically significant risk factors for relapse. CONCLUSION: A high proportion of patients with CD have sarcopenia at the time of the diagnosis. There is a good correlation between muscle mass assessed by MRI and BIA. Because MRI is performed in a great proportion of newly diagnosed CD patients it can also be used to assess the presence of sarcopenia.
Subject(s)
Crohn Disease , Sarcopenia , Humans , Child , Male , Adolescent , Female , Sarcopenia/diagnostic imaging , Crohn Disease/complications , Crohn Disease/diagnostic imaging , Tumor Necrosis Factor Inhibitors , Muscles , Magnetic Resonance ImagingABSTRACT
BACKGROUND: We aimed to examine inherited thrombophilia frequencies by extending genetic profile to previously rarely or not investigated polymorphisms in children with ischemic pediatric stroke (IPS) and their parents. METHODS: The study included 33 children: 23 with perinatal arterial ischemic stroke (PAIS), eight with childhood arterial ischemic stroke (CAIS), and two with sinovenous thrombosis and their parents (33 mother-child, 12 father-child, and 12 mother-father-child pairs). Genotyping of FV-Leiden, FV-H1299R, FII-G20210A, ß-fibrinogen-455G>A, FXIII-A-Val34Leu, PAI-1(4G/5G), HPA-1, MTHFR-C677T, MTHFR-A1298C, ACE(I/D), and APOE(ε2-4) was performed using CVD Strip assay (ViennaLab, Austria). RESULTS: At least one and up to seven simultaneously present polymorphisms were observed in all children with IPS, mothers, and fathers. More than five simultaneously present polymorphisms were identified threefold more frequently in children with IPS (10 of 33; 30%) compared with the child control group (17 of 150; 11%), yielding a statistically significant difference between the two groups (odds ratio [OR] = 3.40; 95% confidence interval [CI] = 1.39 to 8.35; P = 0.012). Stronger association was revealed for PAIS (OR = 4.17; 95% CI = 1.55 to 11.29; P = 0.008) and CAIS subgroups (OR = 7.82; 95% CI = 1.79 to 34.20; P = 0.012). Complete match of polymorphisms was not identified in any parent-child pair. A partial match (one to four mutual polymorphisms) was found in 11 of 12 parent-child pairs where until three mutual polymorphisms was present in 11 of 12 (91.7%) father-child compared with 21 of 33 (63.6%) mother-child pairs. CONCLUSIONS: According to obtained results the simultaneous presence of more than five polymorphisms is associated with a higher risk for IPS occurrence, suggesting the risk enhancement for PAIS in the presence of pregnancy complications or for CAIS in conjunction with maternal comorbidity and positive family history. The presence of up to three mutual polymorphisms more frequently in father-child than mother-child pairs suggests significant paternal contribution of inherited thrombophilia to increased risk of IPS.
Subject(s)
Ischemic Stroke , Stroke , Thrombophilia , Female , Pregnancy , Humans , Child , Factor V/genetics , Thrombophilia/genetics , Thrombophilia/complications , Polymorphism, Genetic/genetics , Ischemic Stroke/complications , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Parent-Child Relations , Prothrombin/genetics , Stroke/genetics , Stroke/complicationsABSTRACT
Achromobacter xylosoxidans is an aerobic, Gram-negative rod with a broad intrinsic and acquired antimicrobial resistance, usually isolated in patients with cystic fibrosis (CF), immunodeficiencies, or those undergoing invasive procedures. We report a case of a previously healthy 14-year-old girl who was hospitalized in our institution due to a prolonged, progressive cough and exertional dyspnea, which started after a mild viral respiratory tract infection. To elucidate the cause of her symptoms, a bronchoscopy was finally performed, showing bilateral purulent bronchitis caused by A. xylosoxidans, isolated from bronchoalveolar lavage (BAL) sample. Since the patient had positive serological testing for coronavirus disease 2019 (COVID-19), we concluded that it was the initial viral infection, although of a mild clinical course, the one that created favorable conditions for proliferation and further inflammation caused by A. xylosoxidans.
Subject(s)
Inflammatory Bowel Diseases , Superior Mesenteric Artery Syndrome , Child , Humans , Inflammatory Bowel Diseases/complications , Inflammatory Bowel Diseases/diagnosis , Inflammatory Bowel Diseases/therapy , Superior Mesenteric Artery Syndrome/diagnosis , Superior Mesenteric Artery Syndrome/diagnostic imaging , Tomography, X-Ray Computed/adverse effectsABSTRACT
INTRODUCTION/OBJECTIVES: Magnetic resonance imaging (MRI) is recommended for evaluation of changes in juvenile spondyloarthropathies (JSpA). To our knowledge, there is no previous prospective study analysing early changes on axial MRI. The objective is to investigate incidence of reparable changes on axial MRI in patients with established JSpA, lasting for less than 6 months. MATERIALS AND METHODS: The pilot study included 27 patients with confirmed diagnosis of JSpA examined within 2 years. Prior to imaging, basic demographic and laboratory data and HLA-B27 were collected. Patients filled out a visual analogue scale for pain and a childhood health assessment questionnaire. A paediatric rheumatologist and a paediatric physiatrist examined patients and measured indices of flexion, extension and sagittal flexibility. Contrast-enhanced axial MRI examination and cervical x-ray were performed. Three experienced paediatric radiologists independently reviewed x-ray and MRI images of all patients. RESULTS: There was no significant correlation between early changes detected on MRI and other parameters. The study revealed early changes of the cervical spine to be the most common finding. More patients had positive cervical MRI than positive sacroiliac joint (SIJ) MRI. Cervical x-ray and MRI were equally useful for diagnosis regardless of other parameters. CONCLUSION: Study showed new information on axial involvement, striking cervical spine as the most involved part. The biggest study limitation is the small number of patients. Establishing early JSpA diagnosis is of utmost importance, especially in the light of novel therapy introduced in every day practice. It seems that cervical spine involvement is more represented than previously described in literature, especially in comparison with SIJ. Key Points ⢠Contrast-enhanced MRI is considered the gold standard for detection early changes in JSpA. ⢠Standardization of diagnostic criteria and better classification of changes using the unique scoring system for children are necessary. ⢠It seems that cervical spine involvement is more represented than previously described in the literature, especially in comparison with SIJ involvement.
Subject(s)
Spondylarthritis , Child , Humans , Magnetic Resonance Imaging , Pilot Projects , Prospective Studies , Sacroiliac Joint , Spondylarthritis/diagnostic imagingSubject(s)
Cosmetic Techniques/adverse effects , Subcutaneous Emphysema/etiology , Acne Vulgaris/therapy , Child , Face , Female , Humans , NeckABSTRACT
Magnetic resonance imaging (MRI) in preschool children is often challenging due to excessive motion artifacts. Sedation or general anesthesia (GA) is commonly used to prevent children from moving in the MRI scanner, with increased risk for cardiopulmonary complications and requirement for skilled personnel. Herein, we investigated whether oral melatonin, a natural hormone implicated in circadian rhythm regulation, could be used as an alternative sedation method prior to the MRI in preschool children with musculoskeletal problems. Fifteen children with suspected juvenile idiopathic arthritis underwent a total of 16 MRI examinations following administration of 10 mg of oral melatonin; satisfactory images were obtained in all but one case, with no adverse events. CONCLUSION: The use of melatonin before the musculoskeletal MRI in preschool children is an effective, safe, and inexpensive alternative to standard sedation and general anesthesia in preventing motion artifacts. What is Known: ⢠Magnetic resonance imaging (MRI) is a well-recognized diagnostic method to visualize synovial inflammation and changes of cartilage and bone in juvenile idiopathic arthritis. ⢠MRI examination requires sedation or general anesthesia to ensure immobility in children who are uncooperative. What is New: ⢠Melatonin without sleep deprivation is efficacious and safe alternative to conventional sedation and general anesthesia before the musculoskeletal contrast-enhanced MRI in preschool children with JIA with timely insertion of intravenous cannula.
Subject(s)
Arthritis, Juvenile/diagnostic imaging , Central Nervous System Depressants/administration & dosage , Conscious Sedation/methods , Magnetic Resonance Imaging/methods , Melatonin/administration & dosage , Child, Preschool , HumansABSTRACT
PURPOSE: Cerebral arteriovenous malformations (AVM) are uncommon lesions. They are most often presented in childhood as intracranial hemorrhage. The aim of this report is to present the use of transcranial color-coded duplex sonography (TCCS) in detection of AVMs in children suffering headache. METHODS: This report describes five pediatric patients with headache and cerebral AVM which were initially discovered by TCCS. Diagnosis was confirmed by magnetic resonance imaging and digital subtraction angiography. RESULTS: In all patients, TCCS showed saccular enlargement of the vessels with a multicolored pattern corresponding to the different directions of blood flow. Spectral analysis showed significantly high flow systolic and diastolic velocities and low resistance index. CONCLUSIONS: In this report, we describe TCCS as a valuable non-invasive, harmless, low-cost, widely available method for the detection and follow-up of hemodynamic changes of AVMs in children with headache, before and after treatment.
Subject(s)
Intracranial Arteriovenous Malformations/diagnostic imaging , Ultrasonography, Doppler, Transcranial/methods , Adolescent , Angiography, Digital Subtraction , Anterior Cerebral Artery/diagnostic imaging , Cerebral Angiography , Child , Female , Headache/etiology , Hemodynamics , Humans , Intracranial Arteriovenous Malformations/complications , Magnetic Resonance Angiography , Magnetic Resonance Imaging , Male , Middle Cerebral Artery/diagnostic imaging , Posterior Cerebral Artery/diagnostic imaging , Ultrasonography, Doppler, ColorABSTRACT
In the last four decades, the incidence of pancreatic cancer has tripled in Western countries. More than 90% of all pancreatic cancers are detected in the advanced stage of the disease when surgical treatment is no longer possible and survival after initial diagnosis is usually very short. The aim of this study was to correlate magnetic resonance imaging (MRI) established diagnosis of chronic pancreatitis, benign lesion and malignant neoplasm with final histopathology. The study included 29 patients in whom the nature of pancreatic pathology could not be determined clinically and by other imaging modalities including abdominal ultrasonography, endoscopic retrograde cholangiopancreatography and multislice computed tomography. MRI examination was performed and radiological report was compared with histopathology assessment of the pancreatic lesion detected. The data obtained indicated systematic conformity between radiological and histopathology findings, confirmed high diagnostic accuracy of MRI for selected pancreatic pathology, and demonstrated the role of MRI as a problem solving diagnostic imaging modality in undetermined pancreatic changes.