OpenMed/multicare-articles huggingface dataset:
Levodopa-Responsive Early-Onset Parkinsonism in Down Syndrome
Authors: Padmini Palat, Francis Hickey, Lina Patel, Elise Sannar
Journal: Case Rep Neurol Med (2018)
MeSH terms: Case Reports

Individuals with Down syndrome (DS) can develop Alzheimer's disease as early as 30 to 40 years old, but parkinsonism is rarely described. We report on a 20-year-old woman with Down syndrome and parkinsonism who responded dramatically to carbidopa-levodopa. We propose that the occurrence of parkinsonism in individuals with DS may be underreported. Recognizing and treating this condition may improve quality of life.
Acute, Nontraumatic Spontaneous Spinal Subdural Hematoma: A Case Report and Systematic Review of the Literature
Authors: Leigh A Rettenmaier, Marshall T Holland, Taylor J Abel
Journal: Case Rep Neurol Med (2017)
MeSH terms: Case Reports

Spontaneous spinal subdural hematoma (sSDH) is a rare condition outright. Moreover, cases that occur spontaneously in the absence of an identifiable etiology are considerably less common and remain poorly understood. Here, we present the case of a 43-year-old man with spontaneous sSDH presenting with acute onset low back pain and paraplegia. Urgent magnetic resonance imaging identified a dorsal SDH from T8 to T11 with compression of the spinal cord. Emergent T8-T10 laminectomies with intradural exploration and hematoma evacuation were performed. However, despite prompt identification and appropriate action, the patient's recovery was modest and significant disability remained at discharge. This unique and unusual case demonstrates that spontaneous sSDH requires prompt surgical treatment to minimize associated morbidity and supports the association between the presence of severe neurological deficits upon initial presentation with less favorable outcomes. We performed a comprehensive systematic review of spontaneous sSDH of unknown etiology, which demonstrates that emergent surgical intervention is indicated for patients presenting with severe neurological deficits and the presence of these deficits is predictive of poor neurological outcome. Furthermore, conservative management should be considered in patients presenting with mild neurological deficits as spontaneous resolution followed by favorable neurological outcomes is often observed in these patients.
Roles of Type 1 Insulin-Like Growth Factor (IGF) Receptor and IGF-II in Growth Regulation: Evidence From a Patient Carrying Both an 11p Paternal Duplication and 15q Deletion
Authors: Eloïse Giabicani, Sandra Chantot-Bastaraud, Adeline Bonnard, Myriam Rachid, Sandra Whalen, Irène Netchine, Frédéric Brioude
Journal: Front Endocrinol (Lausanne) (2019)
Keywords: 11p duplication, beckwith-wiedemann syndrome, igf-ii, igf1 receptor, fetal growth restriction, imprinting disease
MeSH terms: Case Reports

We report an original association of complex genetic defects in a patient carrying both an 11p paternal duplication, resulting in the double expression of insulin-like growth factor 2 (IGF2), as reported in Beckwith-Wiedemann syndrome, and a 15q terminal deletion, including the type 1 IGF receptor gene (IGF1R), resulting in haploinsufficiency for this gene. The patient was born with measurements appropriate for her gestational age but experienced growth retardation in early childhood, allowing a better comprehension of the IGF system in the pathophysiology of growth. It is possible that IGF-II plays a key role in fetal growth, independently of IGF1R signaling, and that its role is less important in post-natal growth, leaving IGF-I and growth hormone as the main actors.
Ankyloglossia and its surgical correction by frenuloplasty in a she-camel calf (Camelus dromedarius)
Authors: S Anwar, G N Purohit
Journal: Open Vet J (2012)
Keywords: ankyloglossia, camel, frenuloplasty
MeSH terms: Case Reports

A rare case of ankyloglossia in a one-humped camel and its successful surgical correction by horizontal to vertical frenuloplasty is reported. Seven-month-old she-camel calf, with a history of excessive salivation and inability to chew and swallow hay, was referred to Al Qattara veterinary hospital. Solid food was regurgitated, whereas milk and water could be swallowed. On examination; the animal could not protrude its tongue which was attached by a thin tissue band between the ventral surface of the tongue and the floor of the oral cavity. The tissue band was corrected by frenuloplasty and the incisions were sutured. The animal recovered well as the salivation and regurgitation stopped and the animal became able to chew and swallow solid food including hay. It was concluded that ankyloglossia can occur in one-humped camel in which a horizontal to vertical frenuloplasty may improve full function of tongue movement.
Measurement of Circulating Tumor Cells to Track Hepatocellular Carcinoma Progression After Liver Transplantation-Case Report
Authors: Yuan Deng, Lei Sun, Heng Liang, Bojing Cui, Caimei Cui, Dan Zhao, Arabella Wan, Guohui Wan
Journal: Front Oncol (2021)
Keywords: circulating tumor cells, hepatocellular carcinoma, liver transplantation, metastasis, tubular adenoma
MeSH terms: Case Reports

Management of patients with hepatocellular carcinoma (HCC) largely relies on surgery and other systemic therapies. However, the poor diagnosis of cancer recurrence or metastasis can lead to a high frequency of treatment failure. Thus, factors that can predict disease status and prognosis of patients need to be identified. Circulating tumor cells (CTCs) are known to accurately predict survival of patients. Here, we report a case in which CTCs successfully predicted the progression of metastatic colon polyps after interventional therapy for HCC. A 48-year-old man was diagnosed with HCC with moderate differentiation in 2016 and subsequently underwent orthotopic liver transplantation. Discharge medications were continued with immunosuppressants (tacrolimus) and antiviral drugs (Titin). In 2018, a colon polyp, a type of tubular adenoma, was detected and surgically removed. However, in 2020, the same tubular adenoma recurred. During cancer progression, CTC counts were measured to monitor the status of metastasis, and a positive correlation was noted between the dynamic change in CTC counts and cancer response (metastasis or recurrence). When diagnosing the metastatic adenoma, the number of cytokeratin-positive CTCs was significantly increased; however, it dropped to zero after the polyp was surgically removed. The same change in CTC counts was observed during the second recurrence of the adenoma, and a subgroup of CTCs, cell surface vimentin-positive CTCs, was significantly increased. The CTC count dropped to an undetectable level after the surgery for the first time. In summary, we presented a clinical case in which CTC counts could predict disease progression during HCC metastasis. Thus, CTC counts should be measured after liver transplantation in patients with HCC for diagnosis and clinical decision-making as it is effective in monitoring cancer progression.
Post-concussion Vulnerability to Transient Global Amnesia
Authors: Matthew D Garvey, Caitlin J Miller, Esther U Kim, George Skulikidis, Teena Shetty
Journal: Front Neurol (2020)
Keywords: amnesia, cerebral blood flow (cbf), cerebral vulnerability, concussion, mtbi (mild traumatic brain injury), transient global amnesia (tga)
MeSH terms: Case Reports

Few studies have investigated transient global amnesia (TGA) in the context of a concussion and the concussion sequelae following TGA. Here we review the case of a 43-year-old male with onset of transient global anterograde and retrograde amnesia 22 days after a sustained concussion. The patient's head CT, MRI of brain, and EEG were reported normal, and the patient regained full cognitive function 8 h after the TGA episode, with no recollection of the conspiring events. Following the TGA episode, the patient experienced notable worsening of concussive symptoms, including headache, head pressure, anxiety, neck pain, feeling slowed down, fogginess, not feeling right, difficulty remembering, and fatigue. The patient remained symptomatic for 32 days after the TGA episode. We suggest that a lingering window of post-concussion cerebral vulnerability, which may extend beyond clinical recovery, could lead to increased susceptibility to acute cognitive deficits, such as TGA.
New genetic mutations in a Chinese child with Ehlers-Danlos syndrome-like spondyloepimetaphyseal dysplasia: A case report
Authors: Shu Han, Xuan Xu, Jie Wen, Jianzhou Wang, Sheng Xiao, Li Pan, Jiang Wang
Journal: Front Pediatr (2022)
Keywords: ehlers-danlos syndrome, case report, genetics, mutation, sequence analysis
MeSH terms: Case Reports

Background:
Ehlers-Danlos syndrome (EDS) spinal deformity type 2 has clinical features similar to those of spondyloepimetaphyseal dysplasia with joint laxity, type 1 (SEMDJL1). They have similar clinical manifestations and a similar genetic basis, both of which can be caused by mutations in the B3GALT6 gene. Hence, genetic screening and careful clinical examination are key to the differential diagnosis of these two diseases.
Case presentation:
A 4-month-old boy was admitted to our hospital in order to find the causes of developmental delay. The clinical examination revealed that the child was delayed, with an excessive range of motion of joints, patent foramen ovale, and was accompanied by skin aging; the child was suspected to have EDS. However, unlike EDS, the child had normal muscle tension, and at the same time had a spinal deformity, mild kyphosis, widened right hip joint space, as well as a special face, joint laxity, and slender fingers, which were typical characteristics of SEMDJL1. A gene analysis showed two suspicious mutations in the B3GALT6 gene: c.808G > A(p.(G270S)) and c.942G > C(p.(W314C)), which were verified to be compound heterozygous mutations by analyzing genes in his parents. This mutation was not included in the HGMD, ClinVar, and other mutation databases, and thus was a newly discovered mutation.
Conclusion:
Using the clinical and genetic analyses, this study reported a Chinese case with EDS-like SEMDJL1 for the first time. Two pathogenic mutations were discovered in the B3GALT6 gene: c.808G > A(p.(G270S)) and c.942G > C(p.(W314C)).
Immune Thrombocytopenia following COVID-19 Vaccine
Authors: Sonal Prasad, Roopam Jariwal, Moujidin Adebayo, Sara Jaka, Greti Petersen, Everardo Cobos
Journal: Case Rep Hematol (2022)
MeSH terms: Case Reports

Several vaccines have been developed and are being administered against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Common side effects include fever, chills, headache, myalgia, and soreness at the injection site. However, some rare adverse effects have also been reported. We present a case of induced thrombocytopenia presenting with petechiae and mucosal bleeding which developed as an adverse response after first-dose administration of the Moderna COVID-19 vaccine.
Cloudy Dialysate as the Initial Presentation for Lymphoma
Authors: Sriram Sriperumbuduri, Deborah Zimmerman
Journal: Case Rep Nephrol (2018)
MeSH terms: Case Reports

Turbid dialysate in a patient on peritoneal dialysis is usually due to peritonitis and almost all these patients are started on empirical antibiotics pending cultures. However, in few of them with culture negative fluid, this could represent other etiologies like chyle, which requires more intensive investigations, and analysis of fluid itself reveals some rare diagnosis. We present one such report of chylous ascites with prompt investigation leading to a diagnosis of malignancy in a peritoneal dialysis patient.
A Case of Sevoflurane Use during Pregnancy in the Management of Persistent Status Asthmaticus
Authors: Jessica Parrott, Mitch Tener, Katie Dennis, Matthew Sharpe, Cecily Clark-Ganheart
Journal: Case Rep Obstet Gynecol (2017)
MeSH terms: Case Reports

Background:
Sevoflurane is rarely used for the treatment of status asthmaticus. We report a case of sevoflurane hepatotoxicity in pregnancy with presentation similar to HELLP syndrome.
Case:
A G2P1001 at 23 weeks in status asthmaticus presented with pCO2 > 130 and pH < 7. She was nonresponsive to traditional therapy. Sevoflurane was added for a 24 hr period. Respiratory status improved. Extubation occurred on day 12. Workup for preeclampsia spectrum disorders occurred due to maternal hypertension. Given the atypical presentation and hepatotoxicity, a liver biopsy was performed. Histologic features suggested drug induced hepatic injury. Liver function subsequently normalized. She delivered a term neonate without short-term complications.
Conclusion:
The use of sevoflurane is a treatment option of status asthmaticus during pregnancy. Providers should be aware of the potential for hepatotoxicity.
Respiratory Failure due to Possible Donor-Derived Sporothrix schenckii Infection in a Lung Transplant Recipient
Authors: Nathan C Bahr, Katherine Janssen, Joanne Billings, Gabriel Loor, Jaime S Green
Journal: Case Rep Infect Dis (2015)

Background. De novo and donor-derived invasive fungal infections (IFIs) contribute to morbidity and mortality in solid organ transplant (SOT) recipients. Reporting of donor-derived IFIs (DDIFIs) to the Organ Procurement Transplant Network has been mandated since 2005. Prior to that time no systematic monitoring of DDIFIs occurred in the United States. Case Presentation. We report a case of primary graft dysfunction in a 49-year-old male lung transplant recipient with diffuse patchy bilateral infiltrates likely related to pulmonary Sporothrix schenckii infection. The organism was isolated from a bronchoalveolar lavage on the second day after transplantation. Clinical and radiographic responses occurred after initiation of amphotericin B lipid formulation. Conclusion. We believe that this was likely a donor-derived infection given the early timing of the Sporothrix isolation after transplant in a bilateral single lung transplant recipient. This is the first case report of sporotrichosis in a lung transplant recipient. Our patient responded well to amphotericin induction therapy followed by maintenance therapy with itraconazole. The implications of donor-derived fungal infections and Sporothrix in transplant recipients are reviewed. Early recognition and management of these fungi are essential in improving outcomes.
Cutaneous Phaeohyphomycosis Caused by Alternaria alternata Unresponsive to Itraconazole Treatment
Authors: Joana Gomes, Catarina Vilarinho, Maria da Luz Duarte, Celeste Brito
Journal: Case Rep Dermatol Med (2011)
MeSH terms: Case Reports

Cutaneous alternariosis is an opportunistic infection that has been described mainly in patients treated with corticosteroids. We report a case of dermal alternariosis occurring in a woman treated with corticosteroids after a neurosurgery that was unresponsive to itraconazole. Treatment with intravenous voriconazole was initiated, followed by oral protocol, with marked improvement of the lesions.
A Ten-Year-Old Boy with Antiepileptic Drugs-Induced DRESS Syndrome
Authors: S Vithana, M H A D De Silva, G P Hewawitharana
Journal: Case Rep Pediatr (2020)
MeSH terms: Case Reports

Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is a life-threatening adverse drug reaction if it is not timely diagnosed and treated. This happens probably following a cascade of immune reactions after the administration of the drug ultimately leading to multiorgan failure and death. Several groups of drugs have been identified as potential aetiologies but the commonest one identified is antiepileptic drugs. The clinical features of DRESS syndrome usually appear several weeks after commencing the offending drug. Initially, fever lymphadenopathy and rash appear followed by hepatitis. Rash is the most prominent feature, and it is a generalized erythematous nonblanching maculopapular rash without the involvement of the mucus membranes or eyes. The rash desquamated over the following days and changed it's context to an exfoliative dermatitis. We report a case of a 10-year-old boy who is one of the twins born to nonconsanguineous parents at 34 weeks of gestation.
Early functional recovery after two-stage surgery with an allogenic bone graft for baseplate loosening in reverse shoulder arthroplasty: a case report
Authors: Mitsuko Yamada, Shinichi Kato, Kazuaki Mito, Atsuo Furui, Osamu Niwa, Nobuki Terada
Journal: Fujita Med J (2021)
Keywords: allogenic bone graft, baseplate loosening, reverse shoulder arthroplasty, two-stage operation

Objectives:
Reverse shoulder arthroplasty (RSA) for cuff tear arthropathy results in good shoulder function. However, RSA is associated with several complications, including infection, dislocation of the shoulder joint, implant loosening, and axillary nerve palsy. Several problems may also occur on the glenoid side, including bone defects of the glenoid, baseplate loosening, and displacement of the sphere. Herein, we report a 79-year-old man who obtained early functional recovery following a two-stage operation with an allogenic bone graft to treat baseplate loosening and a glenoid bone defect after RSA.
Case report:
The patient presented with pain during motion and limited active shoulder joint movement 5 weeks after undergoing RSA for cuff tear arthropathy. CT revealed baseplate loosening and a glenoid bone defect; these complications were treated via a two-stage operation. The first stage comprised the removal of all implants and the grafting of allogenic bone from the femoral head into the glenoid defect. Six months later, CT confirmed complete union of the grafted bone and glenoid. The second stage comprised the re-insertion of all implants. Two months after the last operation, the active shoulder range of motion of the affected side was almost identical to that of the contralateral side.
Conclusion:
Good early functional recovery was obtained using a two-stage operation for baseplate loosening after RSA. Allogenic bone grafting was effective in the reconstruction of the glenoid defect.
Appendix Bleeding with Painless Bloody Diarrhea: A Case Report and Literature Review
Authors: Wanqun Chen, Hong Qiu, Xiaojun Yang, Jinwei Zhang
Journal: Open Med (Wars) (2019)
Keywords: appendix bleeding, granulomatous appendicitis, painless bloody diarrhea

Appendix bleeding is an uncommon clinical phenomenon. In this article, we reported a case of appendix bleeding with painless bloody diarrhea. With the analysis of clinical features, clinical examination, experimental test and literature review, we diagnosed that the appendix bleeding might be caused by granulomatous appendicitis. This successfully cured case might be a reference for later diagnosis and treatment of appendix bleeding with painless bloody diarrhea.
A Giant Brunneroma Causing Gastrointestinal Bleeding and Severe Anemia Requiring Transfusion and Surgery
Authors: Nicola C Frenkel, Miangela M Laclé, Inne H M Borel Rinkes, Izaak Q Molenaar, Jeroen Hagendoorn
Journal: Case Rep Surg (2017)
MeSH terms: Case Reports

Brunner's gland hamartoma, also called hyperplasia, adenoma, and Brunneroma, is an extremely rare benign proliferative lesion of Brunner's glands in the duodenum. While being mostly small and asymptomatic, they can result in gastrointestinal bleeding and obstruction. We report the case of a 54-year-old man presenting with melena and severe anemia requiring blood transfusion. CT scans showed a large mass of 8 cm in diameter, presumably arising in the duodenum. Endoscopic biopsies were not conclusive. As we were unable to determine the nature of the mass preoperatively and due to the severe symptoms, its size, and the uncertain malignant potential, a classic Whipple procedure was performed. The resected specimen showed extensive proliferation of Brunner's glands without signs of malignancy.
Induced ankylosis of a primary molar for skeletal anchorage in the mandible as alternative to mini-implants
Authors: Matina V Angelopoulou, Despina Koletsi, George Vadiakas, Demetrios J Halazonetis
Journal: Prog Orthod (2015)
MeSH terms: Molar / physiopathology, Orthodontic Anchorage Procedures / methods, Tooth Ankylosis / physiopathology, Tooth, Deciduous / physiopathology, Case Reports, Adolescent, Anodontia / therapy, Bicuspid / abnormalities, Dental Implants, Female, Humans, Malocclusion, Angle Class II / therapy, Miniaturization, Molar / surgery, Orthodontic Anchorage Procedures / instrumentation, Orthodontic Space Closure / instrumentation, Orthodontic Space Closure / methods, Orthodontic Wires, Overbite / therapy, Patient Care Planning, Splints, Tooth Extraction / methods, Tooth Replantation / methods, Tooth, Deciduous / surgery, Dental Implants

Background:
Mesial protraction of mandibular posterior teeth requires increased anchorage to avoid undesired tooth movements. Orthodontic mini-implants have become a popular and successful way to increase skeletal anchorage in such cases. However, mini-implants may cause injury to adjacent teeth or anatomical structures and may lead to tissue inflammation. Induced ankylosed primary teeth have been used in the past as abutments for the protraction of the maxilla in cases of maxillary retrognathism. However, this technique has not been described in the literature for the protraction of mandibular molars. The aim of this paper is to present, through a case report, an alternative to mini-implant devices to maximize anchorage in the mandible by inducing ankylosis on a primary molar.
Findings:
A 13-year-old female with class II right malocclusion, deep bite, and congenitally missing right second premolars was referred for orthodontic treatment. Treatment plan involved removal of the primary teeth and mesial protraction of the posterior. In the mandible, ankylosis was induced on the retained primary second molar by extraction, bisection, replantation of the mesial part after endodontic treatment, and bonding of a rigid splint. Ankylosis was diagnosed after 10 weeks and a closing T-loop sectional wire was inserted to move the permanent first molar mesially. At 6 months, the remaining space was closed using elastic chain on a rectangular stainless steel wire with tip-back bends, supported by class II elastics.
Conclusions:
Induced ankylosis of primary teeth can be an alternative to orthodontic mini-implants in selected cases, with minimal risks and maximum biocompatibility.
Ultra-slim flexible bronchoscopy-guided topical hemostatic drugs administration for the management of life-threatening refractory pulmonary hemorrhage in a preterm infant: Case report
Authors: Yan Lin, Hong-Fang Zhao, Meng-Hua Xue, Bing-Jie Xie, Ling-Chao Zeng, Xun Jiang
Journal: Front Pediatr (2022)
Keywords: hfov, flexible bronchoscopy, preterm infant, pulmonary hemorrhage, refractory
MeSH terms: Case Reports

Pulmonary hemorrhage (PH) is a rare acute catastrophic event with high mortality among neonates, especially preterm infants. Primary treatments included pulmonary surfactant, high-frequency oscillatory ventilation, epinephrine, coagulopathy management, and intermittent positive pressure ventilation. However, there are still challenges in diagnosing and treating refractory or focal pulmonary hemorrhages. Ultra-slim bronchoscopy has been widely used in the field of critically ill children and is increasingly being done in neonates with critical respiratory disease in recent years. In this study, we report a case with refractory pulmonary hemorrhage in premature infants, which was finally diagnosed as localized hemorrhage in the upper left lobe and cured by ultra-slim bronchoscopy-guided topical hemostatic drug administration. Bronchoscopy is an optional, safe, and practicable technique for early diagnosis and direct injection therapy of neonatal PH in managing life-threatening PH.