OpenMed/multicare-articles huggingface dataset:
Case Report: Pediatric Recurrent Acute Liver Failure Caused by Neuroblastoma Amplified Sequence ( NBAS) Gene Mutations
Authors: Bingxin Jiang, Fangfei Xiao, Xiaolu Li, Yongmei Xiao, Yizhong Wang, Ting Zhang
Journal: Front Pediatr (2021)
Keywords: compound heterozygote mutation, mutational spectrum, neuroblastoma amplified sequence, recurrent acute liver failure, whole-exome sequencing
MeSH terms: Case Reports

Acute liver failure (ALF) in childhood is a rapidly progressive, potentially life-threatening condition that occurs in previously healthy children of all ages. However, the etiology of ~50% of cases with pediatric ALF remains unknown. We herein report a 4-year-old Chinese girl with recurrent ALF (RALF) due to a mutation in the neuroblastoma amplified sequence (NBAS) gene. The patient had suffered from multiple episodes of fever-related ALF since early childhood. She had also suffered from acute kidney injury, hypertension, mild pulmonary hypertension, pleural effusion, and hypothyroidism. A novel compound heterozygote mutation, c.3596G> A (p.C1199Y)/ex.9del (p.216-248del), in the NBAS gene was identified by whole-exome sequencing (WES). The missense mutation c.3596G> A (p. C1199Y) was inherited from her father, and ex.9del (p.216-248del) was inherited from her mother. The patient was managed with intensive treatments, such as renal replacement therapy (CRRT), intravenous antibiotics, and glucose infusion, and was discharged after full recovery. We identified a novel compound heterozygote mutation in the NBAS gene that caused fever-related RALF in a Chinese child, which further expands the mutational spectrum of NBAS.
A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delay
Authors: Abdelhafid Natiq, Siham Chafai Elalaoui, Sevrine Miesch, Celine Bonnet, Philippe Jonveaux, Saaïd Amzazi, Abdelaziz Sefiani
Journal: Mol Cytogenet (2014)
Keywords: 19p132p1312 deletion, array comparative genomic hybridization, overgrowth, psychomotor delay
MeSH terms: Case Reports

Background:
We report clinical and molecular cytogenetic characterization of a 2 year-old girl with 19p13.2p13.12 microdeletion and compare her clinical features with those of three other patients reported before.
Result:
Array comparative genomic hybridization (aCGH) revealed in the present patient a de novo microdeletion of 1.45 Mb within 19p13.2p13.12. The deletion includes seven OMIM genes: MAN2B1, RNASEH2A, KLF1, GCDH, NFIX, CACNA1A and CC2D1A.
Discussion:
The present case and three other patients with partially overlapping 19p13 microdeletion share the following features: psychomotor and language delay, intellectual disability, seizures, hypotonia, skeletal anomalies and facial dysmorphism. The smallest region of overlapping between all four reported patients is around 300 kb and spans only two genes: NFIX and CACNA1A. Their haploinsufficincy could be the base for the phenotype -genotype correlation.
Renal Cell Carcinoma in Fistulizing Crohn's Disease Patient Who Received Anti-TNF α Therapy
Authors: Abdullah Mohammed Albishi, Rafaat Chakik, Mohammed Bazeed
Journal: Case Rep Gastrointest Med (2021)
MeSH terms: Case Reports

Inflammatory bowel diseases are chronic inflammatory diseases affecting the gastrointestinal tract with different clinical presentations. These chronic inflammatory diseases are associated with an increased risk for both intestinal and different types of extra-intestinal malignancies. In this case report, we describe the condition of a 29-year-old Saudi male diagnosed with fistulizing ileal Crohn's disease 7 years ago. The patient presented to the gastroenterology clinic with left flank pain for the last 2 months, which started gradually. The pain was dull, intermittent, and without a history of fever, dysuria, or hematuria. The patient was passing 3-4 times bowel motion, watery without blood or mucus. On examination, the patient looked well. Abdomen examination revealed a soft and lax abdomen with no tenderness or organomegaly. CT abdomen showed a well-defined hypodense focal lesion originally from the left kidney near the hilum region with a clue sign. Colonoscopy was performed and showed only terminal ileitis. The patient was referred to a urologist for further action. The patient was seen by the urologist, and they are planning for partial left nephrectomy. The renal surgical specimen histopathology was reported later as renal cell carcinoma.
Pediatric Nasopharyngeal Carcinoma as Seen on 18F-FDG PET/CT
Authors: Razi Muzaffar, Francesca Vacca, Huazhang Guo, Rishi Mhapsekar, Medhat M Osman
Journal: Front Oncol (2019)
Keywords: epstein-barr virus, fdg, pet/ct, nasopharyngeal carcinoma, pediatrics
MeSH terms: Case Reports

Pediatric nasopharyngeal carcinoma is a rare malignancy strongly associated with Epstein-Barr virus infection. Patients typically present with non-specific symptoms of epistaxis or serous otitis from eustachian tube obstruction and therefore diagnosis is often delayed. We present a case of a previously healthy 17 year old female who initially complained of migraines which was resistant to oral medication. Symptoms progressed and she saw a dental surgeon for concern of a dental infection and was prescribed antibiotics with no relief. Her symptoms continued to progress until an otolaryngologist visualized a large mass along the floor of the left nasal cavity. Subsequent imaging showed a large mass in the posterior left nasal cavity and biopsy was consistent with nasopharyngeal carcinoma.
Maturogenesis of an Immature Dens Evaginatus Nonvital Premolar with an Apically Placed Bioceramic Material (EndoSequence Root Repair Material®): An Unexpected Finding
Authors: S Nagarajan M P Sockalingam, Mohd Safwani Affan Alli Awang Talip, Ahmad Shuhud Irfani Zakaria
Journal: Case Rep Dent (2018)
MeSH terms: Case Reports

Dens evaginatus is a dental developmental anomaly that arises due to the folding of the inner dental epithelium that leads to the formation of an additional cusp or tubercle on the occlusal surface of the affected tooth. This accessory tissue projection may carry with it a narrow and constricted pulp horn extension. Occasionally, the tubercle easily fractures, thus leading to microexposure of the pulp horn and eventual pulp necrosis. Often, the pulp necrosis occurs at a time the root development of the affected tooth is incomplete. Apexification with calcium hydroxide and mineral trioxide aggregates has been the mainstay of treatment options before root canal obturation in immature nonvital permanent teeth. Lately, regenerative endodontics (maturogenesis) is becoming one of the preferred treatment modalities to manage such teeth. The current case highlights the possibility of a bioceramic material (EndoSequence Root Repair Material, BC RRM-Fast Set Putty™, Brasseler, USA) which supposed to provide apical root closure (apexification) and could also induce continuation of root growth (maturogenesis).
A Case of Unilateral Coccidioidal Chorioretinitis in a Patient with HIV-Associated Meningoencephalitis
Authors: Christopher B Toomey, Andrew Gross, Jeffrey Lee, Doran B Spencer
Journal: Case Rep Ophthalmol Med (2019)
MeSH terms: Case Reports

Intraocular coccidioidomycosis is a rare condition, with the most commonly reported presentation being an idiopathic iritis in patients who live in or have traveled thorough endemic areas. A paucity of reports exists describing the chorioretinal manifestations of coccidioidomycosis. Here we report a case of unilateral coccidioidal chorioretinitis and meningoencephalitis in an AIDS patient that led to near complete unilateral loss of vision. A 48-year-old Hispanic female with poorly controlled HIV/AIDS in southern California presented with a three-week history of headache, nausea, vomiting, right eye blurry vision, and a one-day history of subjective fever. Examination of the right eye revealed vitritis and several large chorioretinal lesions scattered throughout the periphery and macula with optic disc pallor. Serum coccidioidomycoses complement fixation (CF) was positive (titers of 1 : 256). Neuroimaging revealed a new area of enhancement in the left anterior frontal lobe consistent with meningoencephalitis. The patient was treated with intravenous fluconazole and intravitreal voriconazole with resolution of systemic symptoms and vitritis but persistence of unilateral, severe chorioretinal scarring and vision loss. In conclusion, in spite of the rarity of intraocular coccidioidomycosis, one must carry a degree of suspicion for this vision- and life-threatening condition as a potential etiology of chorioretinitis in individuals with pertinent risk factors.
Cardiac Myosarcoma in a Newborn Infant-A Case Report and Literature Review
Authors: Liliya Vakrilova, Rumen Marinov, Stanislava Hitrova-Nikolova, Dobri Dobrev, Maxim Denev, Stoyan Lazarov
Journal: Front Cardiovasc Med (2021)
Keywords: cardiac surgery, cardiomyosarcoma, congenital heart disease, congenital malignant tumors, echocardiography, newborn infants
MeSH terms: Case Reports

Background: Malignant cardiac neoplasms are extremely rare in neonates. Prenatal diagnosis is often not available. Initial symptoms can mimic non-cardiac diseases. We present a pre-mature newborn, birth-weight 2,480 g, 34 gestational weeks, which underwent cardiac surgery due to a cardiac tumor. Case Summary: This was a 3-rd pregnancy after two spontaneous abortions to a mother with thrombophilia, diabetes, hydramnios, and retroplacental hematoma. The baby was admitted to NICU with transitory respiratory failure and inborn infection; hence oxygen-supplementation and antibiotics were initiated. On day 11 a deterioration with tachypnea, high oxygen requirements, significantly increasing C-reactive protein values were noted. Chest radiographs were unremarkable. On day 18 a life-threatening condition with clinical symptoms of shock was identified. Echocardiography showed a large tumor formation in the right atrium, reduced blood flow in the right ventricle and pulmonary artery. On day 19 cardiac surgery was performed: a large tumor with a myxomatous appearance that occupied the cavity of the right atrium and infiltrated the annulus of the tricuspid valve was extirpated. The front wall was restored with a patch. Hemodynamics was temporarily stabilized. On the following day, ventricular fibrillation and asystole occurred. Despite life support efforts, the outcome was lethal. The histological result confirmed leiomyosarcoma of the right atrium and right ventricular hypotrophy. Conclusion: Inborn cardiac sarcomas are extremely rare. The prognosis is poor. Due to fast progression in the third trimester, they can be missed by fetal echocardiography in earlier pregnancy. The postnatal clinical course is aggressive, not specific until invasive infiltration or obstruction by the tumor mass occurred. In our case, the sarcoma mimicked an inborn infection, followed by nosocomial infection and septic shock. Despite low incidence, cardiac tumors should be kept in mind and echocardiography should be conducted if there are unclear symptoms with progressive deterioration during the neonatal period.
A Case of Hyperparathyroidism due to a Large Intrathyroid Parathyroid Adenoma with Recurrent Episodes of Acute Pancreatitis
Authors: Kazunori Kageyama, Noriko Ishigame, Aya Sugiyama, Akiko Igawa, Takashi Nishi, Satoko Morohashi, Hiroshi Kijima, Makoto Daimon
Journal: Case Rep Endocrinol (2017)
MeSH terms: Case Reports

We report a case of a 66-year-old woman who developed hyperparathyroidism due to a large intrathyroid parathyroid adenoma with episodes of acute pancreatitis. She had previously been treated for acute pancreatitis twice. Serum calcium was 12.4 mg/dL, and intact parathyroid hormone was 253 pg/dL. Ultrasonography and computed tomography of the neck with contrast enhancement revealed a soft tissue mass (28 mm transverse diameter) within the left lobe of the thyroid. 99mTc-MIBI scintigraphy demonstrated focal accumulation due to increased radiotracer uptake in the left thyroid lobe. Left hemithyroidectomy was performed. Histopathology showed no signs of invasion, and this is consistent with parathyroid adenoma. Immunostaining was positive for expression of chromogranin A and parathyroid hormone. The patient had no episode of pancreatitis after the operation. In a patient with recurrent episodes of pancreatitis, the possibility of complication with hyperparathyroidism should be considered.
Optimizing gingival biotype using subepithelial connective tissue graft: a case report and one-year followup
Authors: Harpreet Singh Grover, Anil Yadav, Priya Yadav, Prashant Nanda
Journal: Case Rep Dent (2011)
MeSH terms: Case Reports

Gingival recession is the exposure of root surfaces due to apical migration of the gingival tissue margins. The principal objectives of treating a gingival recession are to achieve better esthetics and reduce hypersensitivity. The gingival biotype is an important modifying factor in the treatment of gingival recession. The purpose of this paper is to highlight the significance of changing the soft tissue biotype to a more favorable one while attempting root coverage, to achieve more stable and long-lasting results using subepithelial connective tissue graft.
Occipital condyle fracture and lower cranial nerve palsy after blunt head trauma - a literature review and case report
Authors: Nils Christian Utheim, Roger Josefsen, Per Hjalmar Nakstad, Torfinn Solgaard, Olav Roise
Journal: J Trauma Manag Outcomes (2015)
Keywords: collet-sicard-syndrome, cranial nerve palsy, occipital condyle fracture

Background:
Lower cranial nerve (IX-XII) palsy is a rare condition with numerous causes, usually non-traumatic. In the literature it has been described only a few times after trauma, mostly accompanied by a fracture of the occipital condyle. Although these types of fractures have rarely been reported one could suspect they have been under-diagnosed. During the past decade they have been seen more frequently, most probably due to increased use of CT- and MRI-scanning. The purpose of this review is to increase the awareness of complications following injuries in the craniocervical region.
Methods:
We based this article on a retrospective review of the medical record of a 24-year old woman admitted to our trauma center after being involved in a car accident and a review of the literature on occipital condyle fractures associated with lower cranial nerve palsy.
Results:
The multitraumatized patient had suffered a dislocated occipital condyle fracture. Months later she was diagnosed with palsy to cranial nerve IX-XII. Literature review shows that occipital condyle fractures are rare as isolated injuries and are in many cases accompanied by further injuries to the cervical spine and soft tissue structures, in many cases ending with severe disability. The exact mechanism leading to these injuries cannot always be explained.
Conclusion:
Recognition of soft tissue injuries in patients with blunt head trauma is important. CT findings involving the craniocervical junction in these patients advocates further investigations including a thorough neurological examination and liberal use of MRI.
The First Case of Fetus in Fetu in Nicaragua: The Management Experience of the Pediatric Neurosurgery Team
Authors: Maria C Cantarero Sr, Ana Lucía Osejo Cantarero, Larissa R Mendieta
Journal: Cureus (2023)
Keywords: fetus in fetu, meningocele, neural tube defect, parasitic twin, spina bifida
MeSH terms: Case Reports

Fetus in fetu (FIF) is a rare congenital anomaly of asymmetric monozygotic twins, where the parasitic twin develops abnormally inside the body of the host twin. In most cases, it is incorporated into the sibling's abdomen, which frequently presents as a retroperitoneal mass. Currently, at least 200 cases have been reported worldwide, being this the first case in Nicaragua. We describe a case of a male newborn, born via cesarean section, with a history of multiple congenital malformations observed via ultrasound examination. At birth, a mass is observed on its dorsum that impresses a skull, but without the presence of bones, with three limbs, two upper and one lower, with an outline located transversely on the pelvic girdle and the presence of two male genitalia with agenesis of the testicles and an accessory kidney. A preoperative diagnosis of FIF and spinal dysraphism was made by computed tomography (CT) and magnetic resonance imaging (MRI). They shared a spinal cord and had the presence of an open spinal defect type meningocele with aberrant roots. After the diagnosis and discussion, the multidisciplinary team proceeded to surgery to perform the separation of the twin (FIF). The subsequent anatomopathological examination revealed that the fetus was anencephalic and had reliable FIF characteristics. The resection was performed followed by the closure of the 430 mL meningocele and complete separation of the spine and the parasitic twin. We present the first case of fetus in fetu in Nicaragua.
Myxoinflammatory Fibroblastic Sarcoma of the Parotid Gland: First Case Report and Literature Review
Authors: Changhong Wei, Xuejia Yang, Pingping Guo, Xiaoyu Chen, Chunjun Li, Jun Chen, Sufang Zhou
Journal: Front Med (Lausanne) (2022)
Keywords: mifs, vimentin, myxoinflammatory fibroblastic sarcoma, parotid gland, soft tissue tumor
MeSH terms: Case Reports

Myxoinflammatory fibroblastic sarcoma (MIFS) is a rare, low-grade malignant soft tissue tumor. Most of the previously reported cases about this tumor were diagnosed within the soft tissues. Here, we report a unique case of MIFS of the right parotid gland in a 39-year-old Chinese male. The tumor primarily consisted of an inflammatory area and a mucus-like area in a migratory distribution. A number of lymphocytes, neutrophils, viral-like cells with large nucleoli, and eosinophilic cytoplasm or Reed-Sternberg-like cells, as well as spindle cells and epithelial-like aberrant cells, were observed within the tumor. They were found to express Vimentin and CD10 protein and no other specific immunohistochemical markers. The various cytomorphology and immunohistochemical features of this tumor were highly consistent with MIFS found in other sites. Therefore, several leading pathologists ultimately confirmed the final diagnosis of MIFS in the right parotid gland after repeated deliberation. To our knowledge, this is the first case of MIFS occurring in the parotid gland. Thus, our study provides a novel basis for identifying the biological behavior of the tumor in MIFS and also allows us to better understand the pathology of this rare tumor.
Arthroscopically Assisted Retrograde Intramedullary Nailing for Periprosthetic Fracture of the Femur after Posterior-Stabilized Total Knee Arthroplasty
Authors: Kazuhiko Udagawa, Yasuo Niki, Kengo Harato, Shu Kobayashi, So Nomoto
Journal: Case Rep Orthop (2018)
MeSH terms: Case Reports

Retrograde intramedullary nailing (RIMN) has been used for periprosthetic fracture of the distal femur after total knee arthroplasty (TKA), yielding good fracture union rates and satisfactory outcomes. However, RIMN for posterior-stabilized- (PS-) TKA risks malpositioning the entry point and disturbing the post of the tibial insert, and the surgeon therefore usually requires knee joint arthrotomy. We report a case of a 79-year-old male who was involved in bicycle accident resulting in periprosthetic fracture of the distal femur after PS-TKA. We performed osteosynthesis with arthroscopically assisted RIMN to define an appropriate entry point. RIMN for posterior-stabilized- (PS-) TKA risks malpositioning the entry point and disturbing the post of the tibial insert. Because arthroscopy can directly visualize the entry point and the tibial post without arthrotomy, arthroscopically assisted RIMN offers a useful technical option for periprosthetic fracture of the distal femur after PS-TKA.
Gastrointestinal Histoplasmosis Presenting as an Acute Abdomen with Jejunal Perforation
Authors: Bryan R Anderson, Jaron Marriott, Chinthaka Bulathsinghala, Humayun Anjum, Salim Surani
Journal: Case Rep Med (2018)
MeSH terms: Case Reports

Introduction:
Gastrointestinal histoplasmosis (GH) is a well-described albeit uncommon disease. It is found almost exclusively in the immunocompromised host, especially those with untreated HIV and low CD4 counts. Presentation with intestinal perforation is seen mostly commonly in the colon. We present a patient with jejunal perforation, and there have been only 3 previous cases reported in the literature.
Case:
A 39-year-old male with known, untreated HIV presented to the ED with an acute abdomen after experiencing worsening intermittent abdominal pain for 2 months before that was associated with nausea, vomiting, diarrhea, and weight loss. CT of the abdomen and pelvis revealed evidence of gas in the mesentery, small bowel thickening, edema, and free fluid in the abdomen. Emergency exploratory laparotomy was conducted. Intraoperative findings included a perforated jejunum that was studded with nodular lesions as well as mesenteric masses. Histopathologic exam of these mesenteric masses and jejunal lesions were positive for histoplasmosis.
Conclusion:
Disseminated histoplasmosis is a life-threatening disease that occurs nearly exclusively in immunocompromised hosts. Untreated, mortality is as high as 80%. This rare presentation with jejunal perforation highlights the need for awareness of histoplasmosis involvement throughout the entirety of the GI tract.
Endovascular management of dissecting posterior cerebral artery aneurysm associated with persistent hypoglossal artery: A case report
Authors: Vivek Murumkar, Sameer Peer, Jitender Saini, Hanumanthapura Ramalingaiah Arvinda
Journal: J Vasc Bras (2021)
Keywords: carotid-basilar anastomosis, dissecting aneurysm, persistent hypoglossal artery
MeSH terms: Case Reports

Persistent embryological connections between the anterior and posterior circulations are rare entities. Persistent hypoglossal artery is the second most common persistent carotid-basilar anastomosis. As it is often associated with hypoplasia of vertebral arteries, it poses a challenge during endovascular interventions. We present a case of a 32-year-old woman who presented with occipital headache of four weeks' duration. Magnetic Resonance Angiography showed hypoplastic vertebral arteries with a persistent hypoglossal artery arising from the cervical segment of the left internal carotid artery and supplying the entire posterior circulation, associated with a dissecting aneurysm of the right posterior cerebral artery. Endovascular parent vessel occlusion was performed for the dissecting posterior cerebral artery aneurysm by navigating the guide catheter, microwire, and microcatheter through the persistent hypoglossal artery because the vertebral arteries were hypoplastic. Post-intervention, the patient did not develop any neurological deficit and was discharged in a stable condition.