OpenMed/multicare-articles huggingface dataset:
Case Report: Report of Infective Endocarditis Caused by Abiotrophia defectiva and Literature Review
Authors: Yanqiang Du, Zhan Zhang, Chao Chen, Han Xia, Hua Zhang, Zhangyan Guo, Yi Wang
Journal: Front Pediatr (2022)
Keywords: abiotrophia defectiva, children, infective endocarditis, metagenomic next-generation sequencing (mngs), pathogen diagnosis
MeSH terms: Case Reports

Objective:
To report the clinical features of the first child with infective endocarditis (IE) caused by Abiotrophia defectiva in mainland China and to raise awareness of the disease.
Methods:
The clinical data of a child with IE caused by A. defectiva admitted to Xi'an Children's Hospital in July 2021 were collected, and the relevant literature was reviewed.
Results:
The child was a female, 8 years old, admitted with fever for 4 days and right-sided limb weakness for 3 days. The illness started with suppurative tonsillitis, followed by headache, fatigue, right-sided mouth, slurred speech, right limb weakness, and unstable holding. Transthoracic echocardiography showed that the mitral valve vegetation was formed and vegetation could also be seen at the entrance of the pulmonary vein at the posterior wall of the left atrium. Cranial contrast-enhanced MRI + magnetic resonance angiography showed multiple intracranial pseudoaneurysm formation and pontine infarction. After A. defectiva was detected by metagenomic next-generation sequencing (mNGS) in cerebrospinal fluid and blood detected, the infection was controlled by anti-infective treatment with meropenem and vancomycin. On the 36th day after admission, due to severe headache and slurred speech, the head CT showed hemorrhage of right parietal pseudoaneurysm and cerebral sickle hernia, and right temporo-occipital hematoma evacuation, cerebrovascular malformation resection, and cranial decompression were performed immediately. After the surgery, her speech ability gradually recovered, the muscle strength of her left upper limb was about grade III, while the muscle strength of the rest of the limbs was normal. After a total of 60 days of hospitalization, her family requested to be discharged.
Conclusion:
This pediatric patient is the first case of childhood IE caused by A. defectiva in mainland China, and the first time in the world that A. defectiva was detected by mNGS in patients with IE.
The first patient with a pure 1p36 microtriplication associated with severe clinical phenotypes
Authors: Fang Xu, Ya-Nan Zhang, De-Hua Cheng, Ke Tan, Chang-Gao Zhong, Guang-Xiu Lu, Ge Lin, Yue-Qiu Tan
Journal: Mol Cytogenet (2014)
Keywords: 1p36 microdeletion, 1p36 microtriplication, copy number variations, single nucleotide polymorphism microarray
MeSH terms: Case Reports

Background:
Copy Number Variants (CNVs) is a new molecular frontier in clinical genetics. CNVs in 1p36 are usually pathogenic and have attracted the attention of cytogeneticists worldwide. None of 1p36 triplication has been reported thus far.
Results:
We present three patients with CNVs in 1p36. Among them one is the first 1p36 tetrasomy due to a pure microtriplication and the other two are 1p36 microdeletion. Traditional chromosome G-banding technique showed a normal karyotype. Single nucleotide polymorphism (SNP) microarray analysis combined with multiplex ligation-dependent probe amplification (MLPA) and fluorescence in situ hybridization (FISH) were used to identify and confirm the chromosome microdeletion/microtriplication. The facial dysmorphisms of the patient with 1p36 tetrasomy differed from those two patients with 1p36 monosomy. The expression levels of B3GALT6, MIB2, PEX10 and PANK4 in the blood were determined, and differential expressions were observed between the patients and controls.
Conclusions:
Our study shows the first case of 1p36 tetrasomy due to a pure microtriplication in a patient with severe intellectual disability and seizures. The study provides a new resource for studying the mechanisms of microtriplication formation, and provides an evidence that overexpression of the specific genes might be related the specific phenotype of 1p36 microtriplication.
A Novel STAT3 Gene Mutation Related Hyper-IgE Syndrome Misdiagnosed as Hidradenitis Suppurativa
Authors: Pragya Shrestha, Geetika Sabharwal, Gisoo Ghaffari
Journal: Case Reports Immunol (2018)
MeSH terms: Case Reports

Although Hyper-IgE Syndrome (HIES) is a rare immunodeficiency disorder, presenting symptoms may be as common as lung and skin infections. Symptoms are usually nonspecific such as recurrent abscesses, folliculitis, and pneumonias along with skeletal abnormalities. Careful history of susceptibility to skin and lung infections, thorough family history, and findings on physical exam can guide towards the diagnosis of this often-eluded condition. Early optimization of therapy with prophylactic antibiotics can prevent recurrent infections and future complications and improve quality of life and longevity of survival. We present a case of a young female with Hyper-IgE Syndrome with a novel mutation in STAT 3 gene who initially presented with long standing history of intractable skin abscesses being managed as Hidradenitis Suppurativa.
Sirolimus: A Rescue Drug to Control Complications of Extensive Venous Malformation
Authors: Mohamed Aly Abdelbaky, Iman Ahmed Ragab, Amr AbdelHamid AbouZeid, Shaimaa Abdelsattar Mohammad, Mohamed Moussa Dahab, Mohammed Elsherbeny, Hatem Abdelkader Safaan
Journal: European J Pediatr Surg Rep (2020)
Keywords: multidisciplinary team, vascular anomalies, vascular malformations, venous malformations
MeSH terms: Case Reports

Venous malformations represent a major sector of vascular anomalies. Most cases are asymptomatic or subclinical; however, large extensive lesions can cause severe disability and sometimes mortality. In this report, we present a successful case of sirolimus treatment in managing an extensive venous malformation in the pelvis of a 21-month-old boy who presented with life-threatening complications. With a history dating since the day 2 of life, the patient suffered from chronic bleeding due to scrotal skin ulcerations, in addition to recurrent attacks of severe bleeding per rectum necessitating hospital admission and blood transfusion (three attacks since the age of 7 months). Pelvic magnetic resonance image showed the typical findings of extensive venous malformation involving the pelvis, perineum, scrotum, and extending to the gluteal region. The lesion was seen totally encasing the anorectum with marked thickening of their walls almost occluding their lumen. Oral sirolimus (2 mg/m 2 ) was started with a target blood trough level of 5 to 10 ng/mL. Over a follow-up period of 5 months, there was obvious clinical improvement that included healing of skin lesions (scrotal ulcer) with complete re-epithelialization, absence of bleeding per rectum with improvement of constipation, and rise of hemoglobin level from 7.5 to 11.5 g/dL.
A Rare Coexistence of Simultaneous Cardio-Cerebral Infarction
Authors: Vijay Yadav, Ratna Mani Gajurel, Chandra Mani Poudel, Paras Thapa, Manju Sharma, Suraj Shrestha
Journal: Case Rep Cardiol (2023)
MeSH terms: Case Reports

Background:
Contemporaneous acute myocardial infarction (AMI) and acute ischemic stroke (AIS), termed cardio-cerebral infarction (CCI), is a rare medical emergency. The effectual management of this situation is exigent since early management of one condition will inevitably delay the other. Case Presentation. A 60-year-old woman presented to our hospital with concurrent AMI of the inferior left ventricular wall, complicated by cardiogenic shock and transient complete heart block, and AIS of more than 4.5 hour duration. The cerebral computerized tomography angiography revealed a right-sided terminal internal carotid artery (ICA) occlusion, and the coronary angiogram depicted double vessel disease with a culprit lesion in the right coronary artery (RCA). The patient underwent mechanical thrombectomy for the ICA occlusion by an interventional neuroradiologist followed by the primary percutaneous coronary intervention of the culprit RCA by the interventional cardiologists in the same setting.
Conclusion:
A patient with concurrent AMI and AIS is a challenging situation to treat in the emergency department, and the treatment must be individualized for each patient.
Unicompartmental Knee Arthroplasty for Knee Osteoarthritis With the Pellegrini-Stieda Lesion: A Case Report
Authors: Qiuyuan Wang, Wanshou Guo, Zhencai Shi, Weiguo Wang, Qidong Zhang
Journal: Front Surg (2022)
Keywords: pellegrini–stieda lesion, knee osteoarthritis, medial collateral ligament (mcl), ossification, unicompartmental knee arthroplasty
MeSH terms: Case Reports

Pellegrini-Stieda lesion is described as ossification on the origin of medial collateral ligament. We present a case of end-stage knee osteoarthritis with the Pellegrini-Stieda lesion treated by unicompartmental knee arthroplasty (UKA). During the postoperative follow-up, an interesting change occurred such that the ossification lesion disappeared gradually and did not relapse. It is supposed that the disappearance was caused by UKA changing the abnormal biomechanics of the varus osteoarthritic knee.
Possible role of COVID-19 in the relapse of Klein-Levin Syndrome
Authors: Adeel Nasrullah, Anam Javed, Obaid Ashraf, Khalid Malik
Journal: Respir Med Case Rep (2021)
Keywords: covid-19, hyperosmnia, klein-levin syndrome
MeSH terms: Case Reports

Klein-Levin Syndrome (KLS) is an extremely rare neurological disorder which can manifest as recurring spells of sleepiness, cognitive disturbances and behavioral changes. We present a novel case of KLS relapse in the setting of Coronavirus disease-19 (COVID-19). A 36-year-old male who had a known history of KLS since adolescence was admitted with sleepiness and behavioral disturbances. Brain imaging and autoimmune encephalitis work was unremarkable. The patient was diagnosed with a relapse of KLS secondary to COVID-19 based on symptomology and lack of any other precipitating factor. The patient required 8 days of hospitalization and was treated with benzodiazepines due to a history of robust response to lorazepam during a prior episode. The patient progressively improved and was discharged home on lorazepam taper. We report that similar to other neurotropic viruses, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) could be the culprit in instigating KLS relapse.
Correction of a Class III Malocclusion with a Functional Shift and Severe Crowding
Authors: Yahya A Alogaibi, Ahmad A Al-Fraidi, Manar K Alhajrasi, Ali A Hassan
Journal: Case Rep Dent (2020)
MeSH terms: Case Reports

A forward functional shift of the mandible is a significant problem that can cause both functional and aesthetic complications for many patients. This shift usually occurs in growing patients, and it is unusual to see in adult patients. This case report shows an adult patient with a forwarding functional shift that caused both anterior and posterior crossbites with a pseudo class III dental and skeletal relationship. The patient also showed severe upper arch crowding with blocked-out canines and mild crowding in the lower arch. The treatment of this patient involved extraction of the upper right and left first premolars and the lower right first premolar, followed by opening of the bite to relieve the neuromuscular reflex of the forward protrusion of the mandible during centric occlusion and to correct both the anterior and posterior crossbites. Extraction spaces were closed using class III elastics and elastomeric chains. At the end of the treatment, good functional and aesthetic results were obtained after the elimination of the forward functional shift.
Cutaneous Melanoma with Tonsillar Metastasis: Treatment with Cryoablation
Authors: Audrius Dulskas, Mantas Trakymas, Jolita Gibavičienė, Vytautas Čepulis, Agnė Čižauskaitė, Narimantas E Samalavičius
Journal: Acta Med Litu (2022)
Keywords: cryoablation, cutaneous melanoma, radiology, tonsil metastasis, tonsillectomy
MeSH terms: Case Reports

Metastasis of cutaneous melanoma to the oral cavity is a rare condition. Male patient with cutaneous melanoma metastasis to right tonsil 2 years after radical skin lesion resection was treated with surgery: tonsillectomy and later resection of soft palate were performed. Two years later the patient was diagnosed with progressive disease to right tonsil and soft palate. Rapid inoperable relapse was detected six months later. The patient underwent two procedures of palliative cryoablation of the metastasis. Postoperative course was uneventful. Patient died 7 months later due to progression of the disease. Cryoablation alone or together with surgery may be a relatively safe option for treatment of inoperable disease of head and neck tumours.
Clinical and molecular cytogenetic characterization of a novel 10q interstitial deletion: a case report and review of the literature
Authors: John C Herriges, Sarah L Dugan, Allen N Lamb
Journal: Mol Cytogenet (2019)
Keywords: 10q21 deletion, 10q22 deletion, c10orf11, gps, kat6b, sbbyss
MeSH terms: Case Reports

Background:
There are only ten reported cases of interstitial deletions involving cytogenetic bands 10q21.3q22.2 in the literature. Of the ten patients with overlapping 10q21.3q22.2 interstitial deletions, only nine have been characterized by chromosomal microarray analysis. Here, we report a two-and-a-half-year-old patient with a de novo 10.2-Mb deletion that extends from 10q21.3 to 10q22.3 and contains 92 protein coding genes.
Case presentation:
The patient is the product of a 37-week dizygotic twin pregnancy and presented with global developmental delay, hypotonia, feeding difficulties, short stature, poor weight gain, scaphocephaly, retrognathia, hypoplasia of the optic nerves/chiasms, a distinctive facial gestalt, as well as additional minor dysmorphic features. The deletion identified in our patient is the second largest reported interstitial deletion involving the 10q21.3q22.2 region. Our patient presents with the generalized features observed in 10q21.3q22.2 deletion patients and also presents with several novel findings including scaphocephaly, hypoplasia of the optic nerves and chiasms, and a very distinctive facial gestalt.
Conclusions:
Based on a literature review, we identify a commonly deleted region and suggest that KAT6B is a critical gene within the 10q21.3q22.2 region. However, a review of the reported overlapping deletions also suggests that there are additional critical genes contributing to the clinical presentation of these patients.
The first successful bone marrow transplantation in Vietnam for a young Vietnamese boy with chronic granulomatous disease: a case report
Authors: Binh Nguyen-Thanh, Le Nguyen-Ngoc-Quynh, Ha Dang-Thi, Chi Le-Quynh, Anh Nguyen-Thi-Van, Huyen Thuc-Thanh, Duong Dang-Anh, Pamela P Lee, Tung Cao-Viet, Dien Tran-Minh
Journal: Front Immunol (2023)
Keywords: chronic granulomatous disease, vietnam, bone marrow transplant, case report, inborn error of immunity
MeSH terms: Granulomatous Disease, Chronic / therapy, Hematopoietic Stem Cell Transplantation / methods, Case Reports, Bone Marrow Transplantation, Child, Preschool, Humans, Male, Southeast Asian People, Vietnam

Background:
Chronic granulomatous disease (CGD) is an inborn error of immunity (IEI) disorder that results from defects in the respiratory burst activity in phagocytes, leading to the inability to kill bacterial and fungal microorganisms. CGD patients usually have a high incidence of morbidity such as infections and autoinflammatory diseases and a high mortality rate. Allogeneic bone marrow transplantation (BMT) is the only definitive cure for patients who suffer from CGD.
Case presentation:
We report the first transplant case of chronic granulomatous disease in Vietnam. A 25-month-old boy with X-linked CGD underwent bone marrow transplantation from his 5-year-old, full-matched human leukocyte antigen (HLA)-carrier sibling after myeloablative conditioning regimen with busulfan 5.1 mg/kg/day for 4 days, fludarabine 30 mg/m2/day for 5 days, and rATG (Grafalon-Fresenius) 10 mg/kg/day for 4 days. Neutrophil was engrafted on day 13 posttransplant, donor chimerism was 100% on day 30 with the dihydrorhodamine-1,2,3 (DHR 123) flow cytometric assay test that reached 38% of the normal 45 days posttransplant. Five months after transplant, the patient was free of infection with stable DHR 123 assay at 37%, and donor chimerism remained 100%. No sign of a graft-versus-host disease had been observed posttransplant.
Conclusion:
We suggest that bone marrow transplantation is a safe and effectual cure for CGD patients, especially for patients with HLA-identical siblings.
Ectopia Cordis as a Lethal Neonatal Condition: A Case Report from Bahrain and a Literature Review
Authors: Shereen M Mohamed, Hasan M Isa, Amarjit K Sandhu
Journal: Case Rep Pediatr (2022)
MeSH terms: Case Reports

Ectopia cordis is a rare type of malformation where the heart is not located normally. It may be partially or completely located outside the thoracic cavity and can be associated with other congenital abnormalities. It results from failure of maturation of midline mesoderm and ventral body formation during embryogenic formation. The exact etiology remains unknown. The literature review reveals the prognosis for infants with ectopia cordis is very poor. Here, we are reporting the first case of a fetus that was prenatally diagnosed with ectopia cordis that was associated with omphalocele documented in our country. Considering the poor prognosis for the fetus, conservative management during the prenatal period was chosen.
Effective Administration of Rituximab in Anti-MDA5 Antibody-Positive Dermatomyositis with Rapidly Progressive Interstitial Lung Disease and Refractory Cutaneous Involvement: A Case Report and Literature Review
Authors: Yuka Ogawa, Dai Kishida, Yasuhiro Shimojima, Koichi Hayashi, Yoshiki Sekijima
Journal: Case Rep Rheumatol (2017)
MeSH terms: Case Reports

We describe the case of a 48-year-old man with dermatomyositis (DM) who demonstrated rapidly progressive interstitial lung disease (RP-ILD) and refractory cutaneous involvement together with high levels of anti-melanoma differentiation-associated gene 5 antibody (anti-MDA5-Ab). Even after combination immunosuppressive therapy including a corticosteroid, cyclosporine A, and intravenous cyclophosphamide, his respiratory insufficiency and cutaneous involvement progressively worsened. However, the administration of rituximab (RTX) resulted in clinical remission as well as a visible reduction in anti-MDA5-Ab levels, suggesting that RTX could be a useful remedy in cases refractory to conventional immunosuppressive agents, especially those of RP-ILD related to anti-MDA5-Ab-positive DM.
Duchenne muscular dystrophy involves the myocardium and causes arrhythmia: Case report
Authors: Xuhan Liu, Wei Zhao, Shangzhi Shu, Weihua Zhang
Journal: Front Cardiovasc Med (2022)
Keywords: arni, arrhythmia, duchenne and baker muscular dystrophies, heart failure, myocardial damage
MeSH terms: Case Reports

Background:
Patients with muscular dystrophy have mutations in the gene that can lead to severe muscle wasting, respiratory issues or heart failure between ages 30 and 40. Currently, there is no effective treatment for DMD-induced heart failure.
Case presentation:
We report a patient with recurrent unexplained fever and muscle soreness was definitely diagnosed with DMD. An analysis of the patient's genetics revealed a nonsense mutation (C.1207G > T). His DMD was treated with hormones. Also, the patient's fever is under control because of hormone therapy. However, as the disease progresses, the heart structure and function gradually change, and eventually malignant arrhythmias occur.
Conclusion:
We report a rare case of DMD involving the heart causing heart failure and malignant arrhythmia. Currently, no complete treatment is available for these patients, but our treatment regimen may benefit our patient and improve his outcomes.
Finding the Dieulafoy's Lesion: A Case of Recurrent Rectal Bleeding in an Immunosuppressed Patient
Authors: Caleb Hudspath, Dylan Russell, Ki Eum, Joel Guess, Jessica Bunin, Franklin Goldwire
Journal: Case Rep Gastrointest Med (2019)
MeSH terms: Case Reports

A Dieulafoy's lesion (DL) is rare cause of acute gastrointestinal bleeding defined as a vascular abnormality of the submucosa. With a high prevalence for the stomach and upper gastrointestinal tract, it is rarely observed in the lower gastrointestinal tract. Its prevalence is rare accounting for less than 2% of all cases of acute gastrointestinal bleeding. The etiology of DL is unknown. Common comorbidities include cardiovascular disease, kidney disease, diabetes, alcohol abuse, liver disease, and chronic NSAID use. Few cases involving chronic steroid use and immunosuppressive treatment have been reported. The most common diagnostic and treatment modality is endoscopy with refractory cases treated with arterial embolization by angiography. We present a case involving a patient with significant comorbidities on chronic immunosuppression with a life-threatening, massive lower gastrointestinal bleed from a DL in the rectum.
Continuous Surgical Decompression for Solitary Bone Cyst of the Jaw in a Teenage Patient
Authors: Lluís Brunet-Llobet, Eduard Lahor-Soler, Elias Isaack Mashala, Jaume Miranda-Rius
Journal: Case Rep Dent (2019)
MeSH terms: Case Reports

Background:
A solitary bone cyst or simple bone cyst is a nonneoplastic osseous lesion, with no epithelial lining, also considered as a pseudocyst. These lesions, with an intact bony wall and fluid-filled, are frequently discovered by chance in radiological studies. The etiopathogenesis has not been studied in depth, and the management remains controversial.
Case presentation:
We present a clinical case of a 15-year-old boy who underwent an orthopantomography to assess the development and position of the third molars during a routine postorthodontic check-up. By chance, the X-ray identified an asymptomatic radiolucent image in the left jaw, measuring 12.0 mm × 17.8 mm and compatible with a solitary bone cyst involving teeth 35 and 36. We describe our technique for performing minimally invasive decompression of the lesion using a microperforated catheter. We describe the entire course of the follow-up, both clinical and radiological, until complete cure.
Conclusions:
This straightforward continuous decompression technique poses no problems for the patient, has a low risk of sequelae, and is clearly cost-effective. In view of the highly satisfactory evolution, whenever possible, we favor this minimally invasive technique for the treatment of solitary bone cysts in the jaw.