OpenMed/multicare-articles huggingface dataset:
A rare case of rectal prolapse after Deloyers procedure in a patient with Hirschsprung's disease: A case report
Authors: Brandon Cheuk-Fung Law, Oswens Siu-Hung Lo
Journal: Int J Surg Case Rep (2019)
Keywords: adult, case report, deloyers, hirschsprung’s, rectal prolapse

Introduction:
Deloyers procedure has been reported in the literature as a viable alternative to the more commonly performed Swenson, Soave and Duhamel methods. As of yet, the long term sequelae of this procedure for patients with Hirschsprung's disease have not been studied in depth.
Presentation of case:
We report the first case in the literatures of a 27-year-old man presenting with rectal prolapse due to colorectal anastomotic intussusception after Deloyers procedure for Hirschsprung's disease.
Discussion:
Few studies with low case volume have been performed investigating the long term sequelae of Deloyers procedure as a mainstay in patients undergoing operative treatment for Hirschsprung's disease. This procedure allows for preservation of a longer segment of colon, in turn potentially improving absorption and continence compared to other methods. Studies are limited and as of yet the viability of Deloyers as a mainstay of treatment for Hirschsprung's disease is inconclusive.
Conclusion:
We report the first adult case of prolapsed colorectal anastomotic intussusception after Deloyers procedure for Hirschsprung's disease. Further study is required to delineate long-term complications and viability of this method in these patients.
Isolation and Characterization of an Atypical Metschnikowia sp. Strain from the Skin Scraping of a Dermatitis Patient
Authors: Chee Sian Kuan, Rokiah Ismail, Zhenli Kwan, Su Mei Yew, Siok Koon Yeo, Chai Ling Chan, Yue Fen Toh, Shiang Ling Na, Kok Wei Lee, Chee-Choong Hoh, Wai-Yan Yee, Kee Peng Ng
Journal: PLoS One (2016)
MeSH terms: Dermatitis / microbiology, Metschnikowia / isolation & purification, Metschnikowia / pathogenicity, Mycoses / microbiology, Skin / microbiology, Case Reports, Aged, Antifungal Agents / pharmacology, DNA, Fungal / genetics, DNA, Ribosomal / genetics, Humans, Male, Metschnikowia / classification, Metschnikowia / drug effects, Mycological Typing Techniques, Mycoses / complications, Mycoses / genetics, Phylogeny, Pigmentation, Sequence Analysis, DNA, Skin / drug effects, Skin / metabolism, Antifungal Agents, DNA, Fungal, DNA, Ribosomal

A yeast-like organism was isolated from the skin scraping sample of a stasis dermatitis patient in the Mycology Unit Department of Medical Microbiology, University Malaya Medical Centre (UMMC), Kuala Lumpur, Malaysia. The isolate produced no pigment and was not identifiable using chromogenic agar and API 20C AUX. The fungus was identified as Metschnikowia sp. strain UM 1034, which is close to that of Metschnikowia drosophilae based on ITS- and D1/D2 domain-based phylogenetic analysis. However, the physiology of the strain was not associated to M. drosophilae. This pathogen exhibited low sensitivity to all tested azoles, echinocandins, 5-flucytosine and amphotericin B. This study provided insight into Metschnikowia sp. strain UM 1034 phenotype profiles using a Biolog phenotypic microarray (PM). The isolate utilized 373 nutrients of 760 nutrient sources and could adapt to a broad range of osmotic and pH environments. To our knowledge, this is the first report of the isolation of Metschnikowia non-pulcherrima sp. from skin scraping, revealing this rare yeast species as a potential human pathogen that may be misidentified as Candida sp. using conventional methods. Metschnikowia sp. strain UM 1034 can survive in flexible and diverse environments with a generalist lifestyle.
Inferior Alveolar Intraneural Cyst Arising from Temporomandibular Joint
Authors: Catherine Mignon, Pierre-Antoine Poncelet
Journal: J Belg Soc Radiol (2022)
Keywords: intraneural cyst, inferior alveolar nerve, temporomandibular joint
MeSH terms: Case Reports

Teaching Point: Cystic nerve enlargement near a joint should evoke an intraneural synovial cyst and lead to the tracking of the articular connection for confirmation, where ever the location within the body is.
Pleomorphic adenoma of the cervical heterotopic salivary gland: a case report
Authors: Saman Vegari, Masoud Naderpour, Alireza Hemmati, Hosein Baybordi
Journal: Case Rep Otolaryngol (2012)
MeSH terms: Case Reports

Introduction. Although pleomorphic adenoma is the most common neoplasm of the salivary glands, this tumor most commonly involves the minor salivary glands of palatal and rarely occurs in cervical region. Case Report. A 21-year-old female referred to our clinic due to painless mass of right upper region of neck. After paraclinical and pathologic evaluation, it was diagnosed as cervical pleomorphic adenoma. Conclusion. Pleomorphic adenoma may be rarely involving the neck. Although the prognosis is good, the choice treatment is the complete resection of the tumor.
Diffuse panbronchiolitis in a patient with common variable immunodeficiency: a casual association or a pathogenetic correlation?
Authors: Alessandro Ginori, Aurora Barone, David Bennett, Marie Aimée Gloria Munezero Butorano, Maria Grazia Mastrogiulio, Antonella Fossi, Paola Rottoli, Donatella Spina
Journal: Diagn Pathol (2014)
MeSH terms: Bronchiolitis / complications, Bronchiolitis / pathology, Common Variable Immunodeficiency / complications, Common Variable Immunodeficiency / pathology, Haemophilus Infections / complications, Haemophilus Infections / pathology, Case Reports, Adult, B-Lymphocytes / immunology, Bronchiolitis / immunology, Common Variable Immunodeficiency / immunology, Haemophilus Infections / immunology, Humans, Immunohistochemistry, Male, Diffuse panbronchiolitis

Diffuse panbronchiolitis (DPB) is an idiopathic inflammatory disease that seems to have an immunological pathogenesis and that causes a severe progressive suppurative and obstructive respiratory disorder. Common variable immunodeficiency (CVID) is the most common serious primary immunodeficiency and it is often associated with respiratory diseases. Herein, we describe a case of DPB in a 41-year-old man affected by CVID. We examined the patient's lungs, focusing on the characteristics of the inflammatory cells and of the foamy macrophagic nodules typical of DPB. Immunohistochemical typing of the lymphocytic infiltrate showed that B-cells were almost absent, matching the immunological profile of CVID. The case described is the first case reported in the literature of DPB in a patient affected by CVID. Moreover it seems to confirm the correlation between an immunodeficiency status and the development of DPB and provides more information on the accumulation of nodules of foamy macrophages in DPB.
Virtual slides:
The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/5310709471138338.
Glycogen Storage Disease Type IX due to a Novel Mutation in PHKA2 Gene
Authors: Hamza Hassan Khan, Lauren Parr, Allison Jay, Saleem Raza, Hernando Lyons, Sanjay Kumar
Journal: Case Rep Pediatr (2020)
MeSH terms: Case Reports

We report a case of a 17-month-old male with a history of developmental delay with poor muscle control, hepatomegaly, and transaminitis. Ultrasound of abdomen revealed hepatomegaly with a liver span of 13 cm, homogeneous parenchyma, and normal spleen size. Liver and muscle biopsies were obtained: the liver biopsy revealed distended hepatocytes with excessive glycogen accumulation and fine septate fibrosis. Biopsy of the right vastus lateralis muscle showed focal swollen glycogen containing mitochondria. For the developmental delay, a chromosomal microrarray was ordered. The chromosomal microarray revealed the patient to have 1q21 duplication syndrome and 16p11.2 deletion syndrome. Given the liver and muscle biopsy findings, a glycogen storage disease panel was sent which identified the patient to be hemizygous for a variant of uncertain significance denoted as p.Gly 131Val, c.392G > T in the PHKA2 gene. PKHA2 gene encodes the alpha subunit of hepatic phosphorylase kinase. This change in the PHKA2 gene was in a highly conserved region and had been reported in another patient with decreased enzymatic activity of the phosphorylase kinase and who had symptoms of GSD IX. Based on this, the patient was started on treatment for GSD IX, and his family met with a dietician.
Early Surgery Is Feasible for a Very Large Congenital Infantile Fibrosarcoma Associated With Life Threatening Coagulopathy: A Case Report and Literature Review
Authors: Hamidah Alias, Abdul Halim Abdul Rashid, Sie Chong Doris Lau, C-Khai Loh, Jamari Sapuan, Sharaf Ibrahim, Reena R Md Zin, Yock Ping Chow, Hirokazu Kanegane, Mariko Eguchi
Journal: Front Pediatr (2019)
Keywords: chemotherapy, coagulopathy, congenital infantile fibrosarcoma, infantile tumor, surgery
MeSH terms: Case Reports

Background: Congenital infantile fibrosarcoma (CIF) is a rare malignant soft tissue tumor that predominantly occurs in children under 1 year of age. CIF is frequently misdiagnosed with other conditions like hemangioma of infancy, infantile fibromatosis, or kaposiform hemangioendothelioma. Disseminated intravascular coagulopathy (DIVC) is rarely reported to be associated with CIF. Case presentation: We describe an infant who presented with a large mass over the right arm. She was initially treated conservatively as hemangioma but was later confirmed by tissue histopathological examination to have CIF as the mass rapidly increased in size. She developed massive intra-tumoral bleed with DIVC whilst receiving neoadjuvant chemotherapy requiring multiple blood products transfusion. An urgent near-total resection of the tumor was performed in view of life threatening bleeding despite multiple blood transfusions. Post-operatively, she received further adjuvant chemotherapy. Subsequently, she remained in complete remission 32 months off-treatment and has full function of the affected limb. Conclusions: CIF is an important condition to be considered in infant who has large mass over the extremity. DIVC could be associated with large CIF and when it occurs can be life-threatening. Whenever feasible early surgery should be performed in very young patients with large CIF to prevent mortality from bleeding.
Achilles Tendon Xanthoma and Cholestanol Revealing Cerebrotendinous Xanthomatosis: A New Case Report
Authors: Mohamed Ahmed Ghassem, Aziza Mounach, Julien H Djossou, Hamza Toufik, Najlae El Ouardi, Lahsen Achemlal, Ahmed Bezza
Journal: Case Rep Rheumatol (2021)
MeSH terms: Case Reports

Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disease rarely reported in Africa. Therefore, we report a Moroccan first case report of CTX. A 20-year-old woman was presented in our department for bilateral swelling of the posterior aspect of ankles and the anterior aspect knees with gait disturbances evolving since the age of 7. The patient was the first child of consanguineous marriage. She had bilateral cataracts and developmental delay. Laboratory findings revealed that the plasma cholestanol level was remarkably elevated, and plasma and urine bile alcohol levels were elevated. MRI of ankles showed a bilateral diffuse thickening of the Achilles tendon with hypointense in T1 and heterogeneous hypersignal in T2 with spots in hypersignal in T1 and T2. Brain MRI revealed bilateral and symmetrical T2 hypersignal of dentate nuclei, without white matter signal alterations or cerebral or cerebellar atrophy. A biopsy obtained of the Achilles swelling with a histological study showed an aspect of tendon xanthoma. Hence, the diagnosis of CTX was made. MRI, especially brain MRI, plays an important role in the diagnosis of CTX.
Medicinal plants and ethnomedicine in peril: a case study from Nepal himalaya
Authors: Ripu M Kunwar, Mina Lamichhane Pandey, Laxmi Mahat Kunwar, Ananta Bhandari
Journal: Evid Based Complement Alternat Med (2014)

The impacts of climate change were severe on indigenous medicinal plant species and their dependent communities. The harvesting calendar and picking sites of these species were no longer coinciding and the changes were affecting harvesters' and cultivators' abilities to collect and use those species. Secondary sites: road-heads, wastelands, regenerated forests, and so forth, were being prioritized for collection and the nonindigenous medicinal plant species were being increasingly introduced into the medical repertoire as a substitution and to diversify the local medicinal stock. Acceptance and application of nonindigenous species and sites for livelihood and ethnopharmacopoeias with caution were considered as an important adaptation strategy. Findings on species and site specific accounts urged further researches on medicinal plants, ethnomedicine, and their interrelationship with impacts of climate change.
Symptomatic Long Pauses and Bradycardia due to Massive Multinodular Goiter
Authors: Amrish Deshmukh, Cevher Ozcan
Journal: Case Rep Cardiol (2017)
MeSH terms: Case Reports

Sinus node dysfunction with symptomatic bradycardia or chronotropic incompetence is generally an indication for pacemaker implantation. However, in patients with symptomatic sinus bradycardia, the identification and treatment of underlying pathologies may avoid the need for permanent pacemaker implantation. We present a case of carotid sinus syndrome and severe obstructive sleep apnea due to a massive multinodular goiter in a patient who presented with recurrent sinus pauses and syncope. The patient was managed without pacemaker implantation but instead with thyroidectomy resulting in decompression of the carotid sinus and airway and resolution of bradycardic episodes.
Aversion for Avulsion: A Case of Delayed Diagnosis of Traumatic Tricuspid Rupture
Authors: Wendy K Bernstein, Nicholas Goehner
Journal: Case Rep Anesthesiol (2019)
MeSH terms: Case Reports

Tricuspid rupture secondary to blunt force trauma is a rare diagnosis. However, the incidence of this injury is rising due to the improved initial treatment of complex trauma patients as well as enhanced early detection methods through the use of cardiac ultrasound. We report the case of an otherwise healthy 42 year old male who sustained significant blunt force trauma after a single motor vehicle accident. The diagnosis of traumatic papillary rupture and disruption of the valve apparatus was made on the day of admission after perioperative hemodynamic compromise and the use of intraoperative transesophageal echocardiography. However, treatment was delayed due to concerns of systemic anticoagulation leading to his eventual demise.
Diabetic Striatopathy Complicated With Acute Ischemic Stroke: A Case Report
Authors: Xiao Huang, Junli Qi, Yiding Li, Jianhui Li, Meng-Ge Yang
Journal: Front Neurosci (2022)
Keywords: acute ischemic stroke, chorea, diabetic striatopathy, hyperglycemia, involuntary movement
MeSH terms: Case Reports

Diabetic striatopathy (DS) is a rare complication secondary to hyperglycemia, featured by the choreiform movements and reversible striatal abnormalities on neuroimaging. Several studies have described the clinical characteristics of DS, however, the simultaneous occurrence of DS and acute ischemic stroke (AIS) in the striatum has not been reported. Herein, we report a 68-year-old man with uncontrolled type 2 diabetes who experienced the progressive involuntary movement of the right upper and lower limbs for 10 days. We initially considered this patient as an AIS with hemorrhage in the left basal ganglia and adjacent area because his brain magnetic resonance imaging (MRI) showed hyperintensity on fluid-attenuated inversion recovery (FLAIR) and diffusion-weighted imaging (DWI) images, as well as slight T1-hyperintensity around T1-hypointensity. However, his symptoms worsen persistently, which was inconsistent with neuroimaging findings. Further computed tomography (CT) scan revealed an extensive hyper-density and focal low-density in the left striatum, suggesting the diagnosis of DS and AIS. His symptoms were in complete remission after 2 months of glucose control. However, striatal hyperintensity on T1 images was significantly increased compared to the initial images, which disappeared 18 months later. Additionally, DWI hyperintensity on infarction lesions disappeared, while softening lesions and gliosis were observed on the follow-up MRI images. Therefore, we finally diagnosed the patient as DS complicated with AIS. This report highlights that DS and AIS could occur simultaneously in the striatum after hyperglycemia, which is easily misdiagnosed as AIS with hemorrhage and requires clinicians to pay more attention to avoid misdiagnosis and delayed treatment.
Inflammatory pseudotumor of the liver complicated by lung necrosis and pleural empyema: a case report
Authors: Klaus Steinbrück, Marcelo Enne, Reinaldo Fernandes, Jose M Martinho, Lúcio F Pacheco-Moreira
Journal: Case Rep Surg (2011)
MeSH terms: Case Reports

Inflammatory pseudotumor of the liver (IPTL) is a rare condition, but an important differential diagnosis of hepatic space-occupying lesions. It may regress spontaneously and mimic other liver tumors. Complications are usually intrahepatic. Herein, we present a case of IPTL which developed pleural empyema and lung necrosis as an uncommon complication.
Atypical neurofibroma and osteosclerotic metastasis
Authors: Neeraj Varyani, Anubhav Thukral, Sunny Garg, Kailash Kumar Gupta, Ravi Tandon, Kamlakar Tripathi
Journal: Case Rep Oncol Med (2012)
MeSH terms: Case Reports

35-year-old male presented with multiple swellings in left leg, headache, weakness of limbs for 4 months, and blurring of vision for the last 15 days. On examination, he was pale, cachexic with generalized lymphadenopathy and lower motor neuron type weakness of limbs sparing right upper limb. Blood investigations showed anemia with high alkaline phosphatase. Chest radiograph revealed osteosclerotic metastatic lesion in humerus. Biopsy of leg lesion revealed atypical neurofibroma. Computed tomography (CT) of thorax revealed osteoblastic metastasis. Bone marrow aspiration showed cells with round to oval nuclei, fine granular chromatin with large central prominent nucleoli and eosinophilic cytoplasm with acini formation. Magnetic resonance imaging (MRI) of brain and spinal cord defined metastatic leptomeningeal deposits. Cerebrospinal fluid (CSF) cytology was positive for malignant cells. Gastroscopy showed an ulceroinfiltrative growth from stomach which on histopathology revealed diffuse adenocarcinoma. Palliative treatment was given with intrathecal methotrexate and systemic corticosteroid with chemotherapy. Patient's symptom improved drastically, but we lost him to followup.
Successful Treatment of Carbamazepine-Induced Toxic Epidermal Necrolysis With Clinical Gastrointestinal Involvement: A Case Report
Authors: Le Quynh Chi, Nguyen Thi Van Anh, Nguyen Ngoc Quynh Le, Nguyen Thi Thu Ha, Hoang Minh Tien, Tran Minh Dien
Journal: Front Pediatr (2022)
Keywords: sjs/ten, vietnam, diarrhea, gastrointestinal manifestation, pediatrics
MeSH terms: Case Reports

Background:
Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is a rare and life-threatening disease of the skin and mucosal surfaces. Although gastrointestinal manifestations in adults are potential prognostic factors for disease severity, there are limited data on such cases and their standard management in the pediatric population.
Case presentation:
We herein report the case of an 8-year-old girl with a 1-year history of epilepsy, who presented with bilateral conjunctivitis and progressively widespread bullous, and pruritic eruption based on erythematous skin after administration of carbamazepine. A diagnosis of carbamazepine-induced TEN was made, and the drug was immediately discontinued. The result of genetic screening showed that the patient was positive for the HLA-B*15:02 allele. Then, her condition got worse by developing gastrointestinal involvement, including hematemesis and severe watery bloody diarrhea. A combination of the intravenous immunoglobulin and the appropriate dose of systemic steroids have contributed to a favorable outcome in this case. Multidisciplinary care of mucocutaneous involvement, supplemental nutrition, and fluid replacement was also critically warranted. This report aims to contribute to the current literature on TEN-related gastrointestinal manifestations in pediatrics and highlights the need for further investigations in determining the optimal treatment in such cases.
Conclusion:
In conclusion, we reported the successful treatment of TEN-related gastrointestinal manifestations in a pediatric patient, which should be critically considered in patients with SJS/TEN. Since it may significantly contribute to the poor prognosis of the illness, further investigations in determining standard management in such cases are necessary.
Chronic Atrophic Gastritis with Negative Intrinsic Factor and Parietal Cell Antibody Presenting as a Severe Hemolytic Anemia
Authors: G F Cittolin-Santos, S Khalil, J K Bakos, K Baker
Journal: Case Rep Hematol (2020)
MeSH terms: Case Reports

A 28-year-old Caucasian male with Hashimoto's disease and vitiligo presented with two weeks of dizziness on exertion following pharyngitis which was treated with prednisone 40 mg by mouth once a day for five days. Initial workup revealed anemia, elevated lactate dehydrogenase (LDH), and low haptoglobin. He underwent workup for causes of hemolytic anemia which was remarkable for a peripheral blood smear with hypersegmented neutrophils and low vitamin B12 levels concerning for pernicious anemia. Parietal cell and intrinsic factor antibodies were negative, and he then underwent an esophagogastroduodenoscopy with biopsy. The biopsy was negative for Helicobacter pylori, and the immunohistochemical stains were suggestive of chronic atrophic gastritis. He was started on vitamin B12 1,000 mcg intramuscular injections daily. His hemoglobin, LDH, and haptoglobin normalized. Given the absence of the parietal cell antibody and intrinsic factor antibody, this is a rare case of seronegative pernicious anemia.
Spontaneous Diaphragmatic Rupture in Hypermobile Type Ehlers-Danlos Syndrome
Authors: Ruchi Amin, Brett H Waibel
Journal: Case Rep Surg (2017)
MeSH terms: Case Reports

Ehlers-Danlos Syndrome refers to a spectrum of connective tissue disorders that have a variety of clinical manifestations. In this case, we present a spontaneous diaphragmatic rupture in a patient with type III Ehlers-Danlos Syndrome. The patient presented with worsening shortness of breath after failure of medical therapy for a presumed pneumonia. A CT scan was obtained which showed diaphragmatic rupture with splenic herniation which was repaired in the operating room via thoracotomy. It is important to include diaphragmatic rupture in the differential diagnosis for patients with connective tissue disease and acute onset tachypnea and pain, as this complication has the potential for significant morbidity without prompt surgical intervention.