Case Reports in Medicine最新文献

{"title":"Extrapyramidal Syndrome due to Aripiprazole Overdose in a Young Woman: An Unusual Case Report.","authors":"Homa Talabaki, Ensiyeh Taghizadeh, Zakaria Zakariaei","doi":"10.1155/2024/8883047","DOIUrl":"10.1155/2024/8883047","url":null,"abstract":"<p><p>Aripiprazole is an atypical antipsychotic medication indicated for the treatment of schizophrenia and bipolar disorders. The drug has been shown to exhibit acceptable efficacy and is often preferred as a first-line psychiatric treatment option owing to its lower incidence of adverse effects. While first-generation antipsychotics are associated with extrapyramidal syndrome (EPS), atypical antipsychotics such as aripiprazole are generally associated with a lower frequency of EPS. In this case, we present a 31-year-old woman with a history of bipolar disorder who developed EPS after ingesting 200 mg of aripiprazole. Fortunately, her symptoms improved with the administration of biperiden, and she was discharged five days after ingestion. This case highlights the potential for significant consequences associated with aripiprazole, even within its therapeutic index.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2024 ","pages":"8883047"},"PeriodicalIF":0.8,"publicationDate":"2024-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11319046/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141970690","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dravet Syndrome: A Rare Form of Epilepsy.","authors":"Salwa Al Hosani, Sona Varghese","doi":"10.1155/2024/6710512","DOIUrl":"10.1155/2024/6710512","url":null,"abstract":"<p><p>Dravet syndrome is a rare and severe form of epilepsy that usually emerges in infancy. It is characterized by diverse seizure patterns, cognitive regression, motor impairments, and behavioral abnormalities. The majority of patients with this condition have mutations involving the voltage-gated sodium channel alpha (I) gene <i>SCN1A</i>. We present a detailed account of a two-year-old child with a history of recurrent seizures since the age of 4 months. Genetic testing was performed which revealed a heterozygous pathogenic variant, confirming the diagnosis. The patient was managed successfully by a multidisciplinary approach involving neurologists, developmental specialists, and physical therapists.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2024 ","pages":"6710512"},"PeriodicalIF":0.8,"publicationDate":"2024-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11233182/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141562667","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Delayed Diagnosis of Congenital Duodenal Stenosis in a 16-Year-Old Girl.","authors":"Virtut Velmishi, Dritan Alushani, Ermira Dervishi, Saimir Heta, Spiro Sila, Paskal Cullufi","doi":"10.1155/2024/1070253","DOIUrl":"10.1155/2024/1070253","url":null,"abstract":"<p><strong>Background: </strong>Duodenal atresia or stenosis are different degrees of the same abnormality. They usually occur at the level of the ampulla of Vater and are thought to be an embryologic defect during the development of the foregut, leading to abnormal recanalization. Complete duodenal atresia is usually symptomatic in the early neonatal period, while partial obstruction (web, stenosis) may have a late presentation and a more challenging diagnosis such as in our case. <i>Case Presentation</i>. The patient, a 16-year-old girl, presented with abdominal pain, recurrent vomiting, and growth failure. An upper GI study with barium showed an image compatible with gastroptosis. Further diagnostic procedures confirmed a rare finding such as congenital duodenal stenosis. She underwent surgical intervention, and the recovery period was uneventful.</p><p><strong>Conclusion: </strong>Gastroptosis is not diagnostic for a particular disease. This rare radiological finding in children may obscure uncommon diagnosis, such as congenital duodenal stenosis, which can present a diagnostic challenge beyond early childhood.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2024 ","pages":"1070253"},"PeriodicalIF":0.8,"publicationDate":"2024-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11088463/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140911554","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Misleading Rare Case of Idiopathic Hypertrophic Pachymeningitis.","authors":"Ahmad Rezaee Azandaryani, Amir Mohammad Salehi","doi":"10.1155/2024/5561686","DOIUrl":"10.1155/2024/5561686","url":null,"abstract":"<p><p>Idiopathic hypertrophic pachymeningitis (IHP) is a rare disease with diffuse thickening of the dura mater that has no specific clinical symptoms and manifestations and it causes neurosurgeons to misdiagnose. A 4-year-old girl presented at the emergency room of our hospital with speech difficulty and severe headache. Head computed tomography scans (CT scan) on admission revealed a large fluid collection over the right temporoparietal region with mass effect, and the neurosurgeon drained it with the initial diagnosis of subdural hematoma. However, the postoperative CT scan demonstrated the failure of surgical drainage; therefore, magnetic resonance imaging (MRI) was requested for the patient. MRI identified diffuse nodular dural thickening with internal septations and different internal hemorrhagic stages on the right side with no evidence of brain parenchymal involvement and according to the serology and autoimmune screening tests, and IHP was diagnosed for the patient. The patient underwent craniotomy. There was an immediate improvement of neurologic symptoms. The patient had good clinical and radiologic outcome at 3 -months follow-up. IHP should be part of the differential diagnosis of some cases of noncommunicating hydrocephalus; however, the rarity of the disease and the absence of specific clinical symptoms make the diagnosis difficult.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2024 ","pages":"5561686"},"PeriodicalIF":0.8,"publicationDate":"2024-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10954357/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140173831","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Delayed Diagnosis of Perrault Syndrome: A Rare Genetic Disorder.","authors":"Mirgul Bayanova, Aigerim Abilova, Alisa Nauryzbayeva, Zhibek Turarbekova","doi":"10.1155/2024/5319443","DOIUrl":"10.1155/2024/5319443","url":null,"abstract":"<p><p>Perrault syndrome (PRLTS) is a rare autosomal recessive disorder which is associated with pathogenic variants in HSD17B4, HARS2, CLPP, LARS2, GGPS1, RMND1, TWNK, ERAL1, and PRORP genes. The disease is characterized by sensorineural hearing loss, sometimes with neurological signs, including progressive sensory and motor peripheral neuropathy, cerebellar ataxia, mild mental retardation, and ovarian dysgenesis in females. In this article, we report a case of a child diagnosed with spastic diplegic cerebral palsy. Determination of the segregation status of the parents of a proband with a rare compound heterozygote in the gene HSD17B4 will help the genetic counselling for the prognosis of Perrault syndrome in the family.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2024 ","pages":"5319443"},"PeriodicalIF":0.8,"publicationDate":"2024-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10798831/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139512014","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An Unusual Case of Hyperhemolysis Syndrome and Delayed Hemolytic Transfusion Reaction due to Anti-Jk(a) and Anti-P1 Antibodies","authors":"H. Montgomery, Matthew X. Luo, Steven Baker, Ming Y Lim","doi":"10.1155/2023/5290115","DOIUrl":"https://doi.org/10.1155/2023/5290115","url":null,"abstract":"Background. Hyperhemolysis syndrome (HS) is a severe hemolytic transfusion reaction that can cause hemoglobin and hematocrit levels to drop below pretransfusion levels, leading to severe anemia. HS most commonly occurs in patients with a pre-existing hemoglobinopathy such as sickle cell disease (SCD) or beta-thalassemia. Methods. We report a case of HS, occurring in the absence of hemoglobinopathy, making the diagnosis challenging. The patient reported was also affected by a CIC-rearranged sarcoma. As part of the workup, the patient received a bone marrow biopsy for suspected hemophagocytic lymphohistiocytosis. Results. This provided a rare biopsy specimen to correlate reticulocytopenia with marked erythroid hyperplasia in the marrow, supporting the hypothesis of reticulocyte destruction as a contributing cause of anemia in these patients. This patient had demonstrable alloantibodies to the Jk(a) and P1 antigens as potential triggers for HS. Conclusions. It is vital that a diagnosis of HS be correctly made in these patients with severe anemia, as blood transfusions generally lead to worsening of their conditions.","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"124 6","pages":""},"PeriodicalIF":0.8,"publicationDate":"2023-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139134151","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rare Double Primary Malignancies: A Pancreatic Gastrointestinal Stromal Tumor Mimicking as a Metastatic Lesion of Myoepithelial Carcinoma of Parotid Gland","authors":"V. Marbun, Indah Jamtani, E. Krisnuhoni, S. S. Panigoro","doi":"10.1155/2023/8274226","DOIUrl":"https://doi.org/10.1155/2023/8274226","url":null,"abstract":"Pancreatic gastrointestinal stromal tumors (PGISTs) are exceptionally rare, accounting for <5% of extra-gastrointestinal stromal tumors (EGISTs) and <1% of malignant pancreatic neoplasms. We present a unique case of concurrent double primary malignancies in a 46-year-old female with a history of recurrent myoepithelial carcinoma of the parotid gland, managed through surgical resection and adjuvant therapy. She presented with an enlarging abdominal mass, initially suggestive of pancreatic metastasis. Immunohistochemical analysis revealed positive staining for smooth-muscle actin (SMA) and CD34 in both parotid and pancreatic tissues. Importantly, CD117 expression was confined to the pancreatic tissue, confirming the diagnosis of PGIST rather than metastasis. Subsequently, a splenic-sparing distal pancreatectomy was performed, followed by immediate imatinib therapy. This case underscores the potential for the coexistence of rare primary malignancies with unique histopathological characteristics and organ involvement. When encountering a newly developed lesion in a distant organ, surgeons must consider the possibility of metastasis to guide therapeutic decision-making. Early diagnosis and appropriate intervention are paramount, particularly in the case of PGIST, given its infrequent presentation and clinical complexities.","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"38 4","pages":""},"PeriodicalIF":0.8,"publicationDate":"2023-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139155922","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Statin-Induced Necrotizing Autoimmune Myopathy: Case Report of a Patient under Chronic Treatment","authors":"Ilaria Anna Bellofatto, Marta Sessarego, Amedeo Tirandi, Chiara Olivero, Cosimo Sgura, Elia Maioli, Aurora Gavoci, Elisa Schiavetta, Federica Frè, Benedetta Saccomanno, F. Zaottini, Riccardo Picasso, Chiara Fiorillo, L. Liberale, Luciano Carlo Ottonello, N. Bardi, F. Montecucco","doi":"10.1155/2023/6550473","DOIUrl":"https://doi.org/10.1155/2023/6550473","url":null,"abstract":"Introduction. 3-Hydroxy-3-methylglutaryl coenzyme A reductase (HMGCR) inhibitors are widely used worldwide to treat dyslipidaemia and prevent cardiovascular events. Statins can cause a wide variety of muscle injuries ranging from myalgia to severe rhabdomyolysis. In most cases, these symptoms are mild and self-limiting and do not require specific treatment besides drug withdrawal. Statin-induced autoimmune necrotizing myopathy (SINAM) is a rare but potentially fatal complication, characterized by the subacute onset of progressive proximal muscle weakness and considerably high creatine phosphokinase (CK) levels in patients exposed to statins. The diagnosis is supported by the presence of antibodies HMGCR, which allows the differentiation from other forms of necrotizing autoimmune myopathies. Symptoms usually progress even after statin discontinuation and can determine severe muscle damage. Summary. We describe the case of a 77-year-old man who developed SINAM after 5 years of statin use. He suffered from muscle functional impairment mainly involving proximal lower limb muscles which progressed to the point that he almost became bedridden. Initial treatment with prednisone alone was not effective, and he required a combination therapy with steroids, methotrexate, and intravenous immunoglobulins. After 5 months of therapy and rehabilitation, he showed complete laboratory response and muscle strength recovery. Conclusion. Recognizing SINAM is paramount in order to promptly start treatment and avoid permanent muscle damage. Using a combination therapy from the beginning could contribute to a better outcome. Prompt statin cessation, categorization of the muscle disease by autoantibody testing, imaging, and histology, exclusion of malignancy, and anti-inflammatory therapy with corticosteroids, antimetabolites, immunoglobulins, and in some cases rituximab are currently accepted approaches to this entity.","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"52 12","pages":""},"PeriodicalIF":0.8,"publicationDate":"2023-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138967810","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Case of Spontaneous Autoamputation of Ovary in a 46-Year-Old Woman: An Uncommon Presentation (Painless Ovarian Torsion) with Unique Diagnostic and Therapeutic Challenges.","authors":"Shahla Chaichian, Mohanna Khandan, Samaneh Rokhgireh, Sahar Hosseini, Roya Derakhshan","doi":"10.1155/2023/2165226","DOIUrl":"10.1155/2023/2165226","url":null,"abstract":"<p><p>This article presents a case of spontaneous autoamputation of ovary in a 46-year-old nulligravid woman with a history of rheumatoid arthritis and hypertension, who presented with secondary amenorrhea and white vaginal discharge. Despite an initial diagnosis of dermoid cyst based on ultrasound findings, subsequent laparoscopic surgery revealed a necrotized oval-shaped mass in the cul-de-sac, which was identified as the right ovary that had undergone torsion and autoamputation. This case highlights the diagnostic and therapeutic challenges associated with this uncommon presentation, which may be easily misdiagnosed. Clinicians should consider spontaneous autoamputation of ovary as a potential differential diagnosis in women presenting with adnexal masses, even if there is no prior history of abdominal pain.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2023 ","pages":"2165226"},"PeriodicalIF":0.8,"publicationDate":"2023-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10730245/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138798454","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"COVID-19, A New Possible Mimicker of Interstitial Lung Disease Related to Primary Sjögren’s Syndrome","authors":"Alessia Laneri, S. Cerri, G. Della Casa, A. Moretti, A. Manfredi, M. Sebastiani, Enrico Clini, Carlo Salvarani","doi":"10.1155/2023/9915553","DOIUrl":"https://doi.org/10.1155/2023/9915553","url":null,"abstract":"Introduction. Acute exacerbation of interstitial lung disease (ILD) and COVID-19 pneumonia show many similarities, but also COVID-19 sequelae, mainly when fibrotic features are present, can be difficult to distinguish from chronic ILD observed in connective tissue diseases. Case Report. In 2018, a 52-year-old woman, was diagnosed with primary Sjogren’s syndrome (pSS). The patient did not show respiratory symptoms, and a chest X-ray was normal. During March 2020, the patient was hospitalized for acute respiratory failure related to COVID-19 pneumonia. Three months later, follow-up chest high-resolution computed tomography (HRCT) showed ground glass opacity (GGO) and interlobular interstitial thickening. Pulmonary function tests (PFTs) showed slight restrictive deficit and mild reduction in diffusion lung of carbon monoxide (DLCO). The patient complained of asthenia and exertional dyspnoea. A multidisciplinary discussion including rheumatologist, pulmonologist, and thoracic radiologist did not allow a definitive differential diagnosis between COVID-19 persisting abnormalities and a previous or new-onset pSS-ILD. A “wait and see” approach was decided, monitoring clinical conditions, PFTs, and chest HRCT over time. Only 2 years after the hospitalization, improvement of clinical symptoms was reported; PFT also improved, and HRCT showed almost complete resolution of GGO and interlobular interstitial thickening, confirming the diagnostic hypothesis of long-COVID lung manifestations. Discussion. In the above-reported case report, 3 differential diagnoses were possible: a COVID-19-related ILD, a preexisting pSS-ILD, or a new-onset pSS-ILD triggered by COVID-19. Regardless of the diagnosis, the persistence of clinical and PFT alterations, suggested a chronic disease but, surprisingly, clinical and radiologic manifestations disappeared 2 years later.","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"3 11","pages":""},"PeriodicalIF":0.8,"publicationDate":"2023-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138585951","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}