Search results for "Case Report"
showing 10 items of 771 documents
A Rare Case of Docetaxel-Induced Hydrocephalus Presenting with Gait Disturbances Mimicking and Coexisting with Taxane-Associated Polyneuropathy: The …
2017
Docetaxel constitutes a widely used chemotherapeutic agent as a first-line treatment for several neoplastic diseases. One of the most common side effects induced by this drug is polyneuropathy, which among other symptoms can cause gait disbalance. However, in exceptional cases gait disturbances could be related to docetaxel-induced hydrocephalus, a rare event that up to the present has been overseen throughout the medical literature and should be meticulously differentiated from polyneuropathy, since its clinical features, treatment, and prognosis differ drastically. We present the case of a woman with a progressive gait disturbance that started immediately after having been treated with do…
The craniofacial necrotizing fasciitis after a minor trauma in an elderly white woman
2014
The term necrotizing fasciitis /NF/ was probably first described by Jones in 1871 as “hospital gangrene”. NF, with its fast spreading from the local infection to massive necrosis of the underlying tissues, ie. superficial fascia and subcutaneous layers, is a potentially fatal disease, unless diagnosed early and properly treated. NF is more frequent in frail patients with chronic debilitating illnesses, immune deficiencies or from a poor social background. Sixty percent of NF cases occur in females. Here we present a case of necrotizing fasciitis of the head and neck region after a minor trauma (phenol blocks due to severe neuropathic pain) in an 82-year-old female with the history of trigem…
New insights on partial trisomy 3q syndrome: de novo 3q27.1-q29 duplication in a newborn with pre and postnatal overgrowth and assisted reproductive …
2023
Abstract Background Duplications of the long arm of chromosome 3 are rare, and associated to a well-defined contiguous gene syndrome known as partial trisomy 3q syndrome. It has been first described in 1966 by Falek et al., and since then around 100 patients have been reported. Clinical manifestations include characteristic facial dysmorphic features, microcephaly, hirsutism, congenital heart disease, genitourinary anomalies, hand and feet abnormalities, growth disturbances and intellectual disability. Most of cases are due to unbalanced translocations, inherited from a parent carrying a balanced aberration (reciprocal translocation or inversion), and rarely the genomic anomaly arises de no…
Oral verruciform xanthoma and erythroplakia associated with chronic graft-versus-host disease: A rare case report and review of the literature
2017
Abstract Background Oral verruciform xanthoma is an uncommon benign lesion. Although oral verruciform xanthoma occurs in healthy individuals, it has been also reported in association with some inflammatory conditions. The aim of this study is to report a case of oral verruciform xanthoma associated with chronic graft-versus-host disease and to review the literature on this topic. Case presentation A 47-year-old Caucasian male presented to the Sector of Oral Medicine “V. Margiotta”, University Policlinic “P. Giaccone” of Palermo complaining of a mass on the gingiva. He first noticed the painless mass 1 year ago. He reported to have undergone allogenic hematopoietic stem cell transplantation …
Differential diagnosis problems in a patient with dysphonia and chronic lymphocytic leukemia
2014
SUMMARY Dysphonia is frequently an expression of laryngitis, especially when it comes in the evolution of an immunosuppressed patient, as happens in chronic lymphoproliferation. But other causes of dysphonia should also not be forgotten, including the possibility of new malignancies, especially due to the fact that these patients have genomic instability that predisposes to appearance of a second or even a third cancer. We present the case of a patient who developed dysphonia during chronic lymphocytic leukemia evolution. Its etiology was a mediastinal compression through lymph nodes, not linked to leukemia, but produced by metastases of a bronchopulmonary cancer, appeared recently. Dysphon…
Multiple granular cell tumors with metachronous occurrence in tongue and vulva. Clinicopathological and immunohistochemical study
2014
Granular cell tumor (GCT) usually occurs as a single tumor, although sometimes multiple lesions can occur. In present report we analyze the clinicopathological and immunohistochemical features of a multiple GCT involving the tongue of a 14-year-old girl, with no other abnormalities, with a metachronous occurrence of a second GCT in vulva, after a period of 10 years. Both tumors revealed S-100, vimentin and CD57 positivity. In addition, over expression of calretinin was observed in tumor cells located in the vicinity of pseudoepitheliomatous hyperplasia (PEH) of the tongue. Tumor vasculature situated close to the PEH showed marked CD105 reactivity, data not described so far, suggesting an in…
Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene
2022
Abstract Background Cardio-facio-cutaneous syndrome (CFCS) belongs to RASopathies, a group of conditions caused by mutations in genes encoding proteins of the rat sarcoma/mitogen-activated protein kinase (RAS/MAPK) pathway. It is a rare syndrome, with about 300 patients reported. Main clinical manifestations include facial dysmorphisms, growth failure, heart defects, developmental delay, and ectodermal abnormalities. Mutations (mainly missense) of four genes (BRAF, MAP 2 K1, MAP 2 K2, and KRAS) have been associated to CFCS. However, whole gene deletions/duplications and chromosomal microdeletions have been also reported. Specifically, 19p13.3 deletion including MAP 2 K2 gene are responsible…
Early cardiac unloading with ImpellaCP™ in acute myocardial infarction with ventricular septal defect
2020
Abstract Despite a relative contraindication, mechanical support with Impella™ left ventricular assist device has already been described for ischaemic ventricular septal defect treatment, either as a bridge to surgery, as intraoperative mechanical haemodynamic support, or to ensure intraprocedural haemodynamic stability during device closure. We describe two cases of ventricular septal defect complicating acute myocardial infarction, where the percutaneous ImpellaCP was implanted early (differently than previously described) with the aim of preventing haemodynamic instability, while deferring surgical repair. We present a report of haemodynamic, echocardiographic, biochemical, and clinical …
Effectiveness of cyclosporine and mycophenolate mofetil in a child with refractory evans syndrome
2011
Evans Syndrome is a rare autoimmune disease consisting of hemolytic anemia, thrombocytopenia and/or neutropenia. It may be associated with other autoimmune or lymphoproliferative diseases. Its course can be extremely serious and, rarely, even life-threatening
Influence of a Specific Aquatic Program on Social and Gross Motor Skills in Adolescents with Autism Spectrum Disorders: Three Case Reports
2019
Swimming pool activities revealed to be efficacious to train psychomotor skills and increase adaptive behaviors in children with Autism Spectrum Disorders (ASD). Therefore, the purpose of this study was to investigate the efficacy of a specific multi-systemic aquatic therapy (CI-MAT) on gross motor and social skills in three adolescents with Autism Spectrum Disorders (ASD). Methods: three adolescents with ASD of which two boys (M1 with a chronological age of 10.3 years and a mental age of 4.7 years; M2 with a chronological age of 14.6 and a mental age inferior to 4 years) and one girl (chronological age of 14.0 and a mental age inferior to 4 years). The study was divided into three phases: …