Search results for "malformation"
showing 10 items of 208 documents
LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters.
2019
Abstract Alazami syndrome (AS) (MIM# 615071 ) is an autosomal recessive microcephalic primordial dwarfism (PD) with recognizable facial features and severe intellectual disability due to depletion or loss of function variants in LARP7. To date, 15 patients with AS have been reported. Here we describe two consanguineous Algerian sisters with Alazami PD due to LARP7 homozygous pathogenic variants detected by whole exome sequencing. By comparing these two additional cases with those previously reported, we strengthen the key features of AS: severe growth restriction, severe intellectual disability and some distinguishing facial features such as broad nose, malar hypoplasia, wide mouth, full li…
Characteristics of mucocutaneous vascular malformations drawn from a decade of a multidisciplinary committee experience.
2021
Vascular malformations (VM) are congenital, benign, and relatively frequent lesions. Scant data have been published about the epidemiology, clinical presentation, and treatment of VM from a dermatologist's perspective. The substantial differences between subtypes, broad range of specialists consulted and confusing nomenclature used over previous years may hamper a correct diagnosis. The main objective of this study is to describe VM epidemiology. As a secondary endpoint we evaluate clinical characteristics, clinical-radiological correlation and treatment approaches. We carried out an observational, descriptive, retrospective study. Cases presented to the multidisciplinary committee of our h…
Primary myelomeningocele closure and consequences
2002
Myelomeningocele, the most frequently occurring open neural tube defect, requires lifelong care of the patient by medical professionals and by relatives. A basic understanding of the neurosurgical measures that have to be taken in the newborn, the infant, the child and the adult is important also for physicians of other disciplines involved in the treatment of patients with myelomeningocele.The most recent topic broadly discussed in this context is the role of foetal neurosurgery for closure of the neural tube defect. There is ongoing debate as to whether the beneficial postnatal effects of a prenatal operation in the unborn foetus outweighs the possible complications for the mother as well…
Are Kawasaki Disease and Pediatric Multi-Inflammatory Syndrome Two Distinct Entities? Results from a Multicenter Survey During SARS-CoV-2 Epidemic in…
2020
Background: There is mounting evidence on the existence of a childhood multi-inflammatory syndrome related to SARS-CoV-2, sharing similarities with Kawasaki Disease (KD). Methods: On April 24th,2020 the Rheumatology Study Group of the Italian Pediatric Society launched a survey to enroll patients diagnosed with KD or KD-like disease. Classification was: 1) classical and incomplete KD, named Kawasaki Disease Group (KDG); 2) KD-like multi-inflammatory syndrome, named KawaCOVID Group (KCG). Demographic, clinical, and laboratory data, treatment information, and patients’ outcome were collected in an online anonymized database (RedCAPO). Chi square test or exact Fisher test and non parametric W…
Stellenwert von Computertomographie und Magnetresonanztomographie in der psychiatrischen Diagnostik
1997
This paper evaluates the role of computed tomography (CT) and magnetic resonance imaging (MRI) in the diagnosis of psychiatric disorders according to the "International Classification of Diseases" (ICD-10). Indications for CT/MRI can be derived from ICD-10 for the identification or exclusion of defined cerebral lesions resp. for the etiology in organic disorders. Due to the lack of specific morphological findings, CT/MRI do not contribute to the classification of all other diagnoses. CT/ MRI can only exclude causal organic factors. However, ICD-10 provides only few guidelines for ruling out cerebral pathology (e.g. tumors in bulimic anorexia). Therefore, recommendations for routine CT/MRI-i…
A case series of intraosseous hemangioma of the jaws : various presentations of a rare entity
2017
Background Hemangiomas of the soft tissue are common in the head and neck area, especially in the tongue and in children under ten years of age. Intraosseous hemangiomas of the mandible and maxilla (IHM), on the other hand, are exceedingly rare and are not well characterized. This study presents six IHM cases focusing on the clinical, radiographic, and histologic characteristics. Material and Methods Six cases of IHM were retrieved from the archives of the Biopsy Services at the University of Washington. Clinical, radiologic, and histologic findings are described. Results A total of six cases of IHM were reviewed. The patient age range was 16 to 65; the group comprised three females and thr…
Pulmonary Arteriovenous Malformation as a Cause of Exercise Intolerance in Children: A Case Report
2020
Pulmonary arteriovenous malformation (PAVMs) in children are rare lesions characterized by abnormal low resistance vascular structures connecting a pulmonary artery to a pulmonary vein, resulting in an intrapulmonary right-to-left shunt. The insidious onset and variable signs and symptoms make diagnosis difficult, especially in children. PAVMs  can be single or multiple, congenital or acquired, and up to 47-80% of cases are associated with hereditary hemorrhagic telangiectasia (HHT).We present the  case of a 12-year-old female teenager referred to our center for epistaxis, headache, fatigue and weakness, with evidence of mild oxygen desaturation.&a…
Cavernous hemangioma of the parotid gland in adults
2014
Hemangiomas account for 0.4-0.6% of all tumors of the parotid gland and most of them occur in children, nevertheless in adults hemangiomas are very rare. We report the case of a 62 year old woman with a mass in the parotid right tail associated with fluctuating swelling episodes unrelated to meals and with a slowly progressive growth. The provisional diagnosis was a pleomorphic adenoma, so a right superficial parotidectomy was performed. During surgery, the macroscopic appearance makes suspect a vascular lesion. The histopathological result was a cavernous hemangioma. The classic clinical presentation of a parotid hemangioma is an intraglandular mass associated or not with skin lesions char…
Diagnostic Value of Prenatal MR Imaging in the Detection of Brain Malformations in Fetuses before the 26th Week of Gestational Age.
2016
BACKGROUND AND PURPOSE: In several countries, laws and regulations allow abortion for medical reasons within 24–25 weeks of gestational age. We investigated the diagnostic value of prenatal MR imaging for brain malformations within 25 weeks of gestational age. MATERIALS AND METHODS: We retrospectively included fetuses within 25 weeks of gestational age who had undergone both prenatal and postnatal MR imaging of the brain between 2002 and 2014. Two senior pediatric neuroradiologists evaluated prenatal MR imaging examinations blinded to postnatal MR imaging findings. With postnatal MR imaging used as the reference standard, we calculated the sensitivity, specificity, positive predictive value…
Outcome of pregnancy in type 1 diabetic patients treated with insulin lispro or regular insulin: an Italian experience.
2008
Some studies have shown that fetal outcome observed in patients using insulin lispro is much the same as in pregnant women using regular insulin. This study aims to analyze the Italian data emerging from a multinational, multicenter, retrospective study on mothers with type 1 diabetes mellitus before pregnancy, comparing those treated with insulin lispro for at least 3 months before and 3 months after conception with those treated with regular insulin. The data collected on pregnant women with diabetes attending 15 Italian centers from 1998 to 2001 included: HbA1c at conception and during the first and third trimesters, frequency of severe hypoglycemic episodes, spontaneous abortions, mode …