Search results for "Case Report"
showing 10 items of 771 documents
Focal nodular hyperplasia of the liver: an unusual association with diabetes mellitus in a child and review of literature
2010
Abstract Hepatic hemangioma, adenoma and focal nodular hyperplasia are the most frequent benign lesions of the liver, but they are all infrequent among pediatric population. The reports of focal nodular hyperplasia in children have recently increased in number, with many cases associated to drug intake, particularly to chemotherapy. We here describe, to our knowledge, the first case of focal nodular hyperplasia in association with diabetes mellitus in childhood.
An uncommon presentation of eosinophilic granulomatosis with polyangiitis: a case report
2013
Introduction Eosinophilic granulomatosis with polyangiitis is a rare and potentially fatal disease if not readily diagnosed. Cerebral involvement is extremely rare and clinical presentation as hemorrhagic stroke is even rarer. Case presentation A 58-year-old Caucasian man was admitted to our medical unit because of a computed tomography-diagnosed hemorrhagic stroke with right-sided hemiparesis and fever. A chest computed tomography scan also revealed multiple bilateral pulmonary infiltrates; coronary artery, and carotid and left vertebral artery calcifications were also observed. Empiric antimicrobial therapy with cephalosporins was promptly undertaken; low-molecular-weight heparin was intr…
Methotrexate induced sprue-like syndrome
2008
A 52 year-old male patient diagnosed of ankylosing spondylitis presented with an iron deficiency anemia after a ten-month treatment of methotrexate. He did not respond to treatment with oral iron not a proton pump inhibitor and an upper endoscopy was performed. The histological study of the duodenal biopsies showed villus atrophy. After removing the methotrexate, administrating intramuscular iron and undertaking a gluten-free diet, the histological and analytical alterations progressively resolved.
Is hospital discharge administrative data an appropriate source of information for cancer registries purposes? Some insights from four Spanish regist…
2010
Abstract Background The use of hospital discharge administrative data (HDAD) has been recommended for automating, improving, even substituting, population-based cancer registries. The frequency of false positive and false negative cases recommends local validation. Methods The aim of this study was to detect newly diagnosed, false positive and false negative cases of cancer from hospital discharge claims, using four Spanish population-based cancer registries as the gold standard. Prostate cancer was used as a case study. Results A total of 2286 incident cases of prostate cancer registered in 2000 were used for validation. In the most sensitive algorithm (that using five diagnostic codes), e…
Malignant teratoma in Klippel-Feil syndrome: a case report and review of the literature
2015
Introduction: Klippel-Feil syndrome is characterized by a congenital fusion of cervical vertebrae. Intracranial teratomas are nongerminomatous germ cell tumors and they account for 0.3 to 0.9% of all intracranial tumors. Teratomas with malignant transformation refer to lesions which give rise to malignant cancer of somatic type. The association between tumors of dermoid origin and Klippel-Feil malformation is extremely rare. Only 23 other cases have so far been reported, and only one case of dermoid tumor with areas of dedifferentiation on squamous cell carcinoma has been described. Case presentation: We report the case of a 72-year-old white man with a 2-year history of gait and balance di…
Congenital cytomegalovirus related intestinal malrotation: a case report
2016
Background: Cytomegalovirus is the most common cause of congenital infection in the developed countries. Gastrointestinal involvement has been extensively described in both adult and paediatric immunocompromised patients but it is infrequent in congenital or perinatal CMV infection. Case presentation: We report on a case of coexistent congenital Cytomegalovirus infection with intestinal malrotation and positive intestinal Cytomegalovirus biopsy. At birth the neonate showed clinical and radiological evidence of intestinal obstruction. Meconium passed only after evacuative nursing procedures; stooling pattern was irregular; gastric residuals were bile-stained. Laparatomy revealed a complete i…
SARS-CoV-2 infection associated with micturition syncope: Our experience with 4 case reports.
2020
Abstract Rationale: Syncope is described as the loss of consciousness and postural muscle tone with a short duration and fast onset. Micturition syncope can be caused by abnormal vasovagal response or by the dysfunction of the blood pressure regulating mechanism, which occurs before, during, or immediately after urination. Patient concerns: We present 4 cases of COVID-19 hospitalized in the Department of Infectious Diseases of the Academic Emergency Hospital Sibiu, Romania, cases that presented micturition syncope. Diagnoses: During hospitalization, patients confirmed with SARS-Cov-2 infection using real time reverse transcriptase-polymerase chain reaction (RT-PCR) assay, presented micturit…
Two distinct phenotypes, hemiplegic migraine and episodic Ataxia type 2, caused by a novel common CACNA1A variant
2020
Abstract Background To investigate the genetic and environmental factors responsible for phenotype variability in a family carrying a novel CACNA1A missense mutation. Mutations in the CACNA1A gene were identified as responsible for at least three autosomal dominant disorders: FHM1 (Familial Hemiplegic Migraine), EA2 (Episodic Ataxia type 2), and SCA6 (Spinocerebellar Ataxia type 6). Overlapping clinical features within individuals of some families sharing the same CACNA1A mutation are not infrequent. Conversely, reports with distinct phenotypes within the same family associated with a common CACNA1A mutation are very rare. Case presentation A clinical, molecular, neuroradiological, neuropsy…
Relocation of an infected tracheostoma: anterior mediastinal tracheostomy as Mission:Impossible
2021
Abstract Infected tracheostomas are frequently associated with high morbidity and mortality rates—especially in patients after neck-oncological surgery with subsequent radiochemotherapy. A 59-year-old male patient with a history of hypopharynx carcinoma, successive laryngectomy and adjuvant radiochemotherapy developed an oesophagotracheal fistula with massive inflammation and periodical bleedings, uncontrollable by regular stent alternations. In a multidisciplinary setting, the decision was made to treat the patient with an anterior mediastinal tracheostomy. Extending usual anterior mediastinal tracheostomy indications, we present an ultimate treatment option for infected tracheostomas and …
Intestinal malrotation in a female newborn affected by Osteopathia Striata with Cranial Sclerosis due to a de novo heterozygous nonsense mutation of …
2022
Abstract Background Osteopathia Striata with Cranial Sclerosis (OS-CS), also known as Horan-Beighton Syndrome, is a rare genetic disease; about 90 cases have been reported to date. It is associated with mutations (heterozygous for female subjects and hemizygous for males) of the AMER1 gene, located at Xq11.2, and shows an X-linked pattern of transmission. Typical clinical manifestations include macrocephaly, characteristic facial features (frontal bossing, epicanthal folds, hypertelorism, depressed nasal bridge, orofacial cleft, prominent jaw), hearing loss and developmental delay. Males usually present a more severe phenotype than females and rarely survive. Diagnostic suspicion is based o…