OpenMed/multicare-articles huggingface dataset:
Primary oral myiasis: a case report
Authors: Nitin Bhola, Anendd Jadhav, Rajiv Borle, Nitin Adwani, Gaurav Khemka, Pretti Jadhav
Journal: Case Rep Dent (2012)

Myiasis commonly refers to invasion of live human or animal tissue by fly larvae of the Diptera order where they complete their cycle totally or in part, feeding on living or dead tissue, as well as on body fluids. Infestation of tissues of vertebrate species is pandemic but more frequently found in tropical and subtropical countries where poor hygiene, poor housing infrastructure, warm humid climate, and proximity with domestic animals prevail. Its diagnosis is made basically by the presence of larvae. The present paper reports a case of gingival myiasis involving 14-16 larvae in a 12-year-old boy.
Case report: A 33 years-old alcoholic male with diarrhea and progressive muscle weakness mimicking Guillain-Barré syndrome
Authors: Anja M Rudolph, Sofia Doubrovinskaia, Johannes Knabbe, Corinna Seliger, Thorsten Lenhard
Journal: Front Neurol (2023)
Keywords: guillain–barré syndrome, wernicke encephalopathy, albuminocytological dissociation, hyponatremia, nerve conduction blockade
MeSH terms: Case Reports

Background:
A subacute manifestation of muscle weakness in temporal association with a diarrheal intestinal infection is always suspicious of Guillain-Barré syndrome (GBS). GBS is characterized as an acute inflammatory polyneuroradiculopathy, mediated by cross-reacting autoantibodies and typically triggered by various infections, vaccinations or other causes. Hyponatremia can be associated with GBS and is usually seen in more severe cases. However, the presence of relevant hyponatremia in a case suspicious of GBS can lead to a diagnostic dilemma. We here describe an intriguing and initially misleading case of hyponatremia mimicking GBS, where repeated and thorough electrophysiology was the key to the correct diagnosis.
Case presentation:
A 33 years-old man with a history of severe alcohol dependence and schizophrenia developed progressive muscle weakness in the course of a preceding episode of diarrhea. Neurological examination revealed a leg-accentuated tetraplegia with global areflexia. There was also a complex oculomotor dysfunction. Laboratory tests showed hyponatremia of 110 mM. Cerebrospinal-fluid analysis showed a normal cell count and cytological evaluation, protein concentration within the normal range. Electroneurography showed severe proximal nerve conduction block as evidenced by prolonged F-wave latency and distal nerve conduction block as evidenced by prolonged distal motor latencies and reduced motor nerve conduction velocities (NCV) in all peripheral nerves examined. GBS-associated ganglioside autoantibodies were absent. After compensation of hyponatremia alone, muscle weakness improved rapidly and nerve conduction velocity improved similarly. These dynamics are not consistent with GBS and unnecessary immunoglobulin treatment could be avoided.
Conclusion:
Suspicion of GBS in the presence of relevant hyponatremia can be misleading as hyponatremia is able to mimic GBS. We demonstrate that repeated and accurate nerve conduction studies together with F-wave diagnostics is helpful to make the correct diagnosis. We discuss the mechanisms of the causes of hyponatremia in GBS and contrast these with the electropyhsiological changes caused by hyponatremia itself. The correct diagnosis will prevent the uncritical use of intravenous immunoglobulins and save unnecessary costs. Also, a possible aggravation of the hyponatremia by immunoglobulin treatment can be averted.
Recurrent Stress Cardiomyopathy: A Rare Variant in a Young Patient with Undiagnosed Pheochromocytoma
Authors: Robert Lembo, Paul Wesley, Joe B Calkins
Journal: Case Rep Cardiol (2021)
MeSH terms: Case Reports

Biventricular stress cardiomyopathy is one of several known anatomical variants of reversible cardiomyopathies to occur. We present a case of a young patient with recurrent stress cardiomyopathy complicated by cardiogenic shock in the perioperative period. The cardiomyopathy observed was in a patient with neurofibromatosis type I and undiagnosed pheochromocytoma who presented for intervention of hydrocephalus. This case demonstrates the importance of vigilance in the young patient who develops shock in the perioperative period.
Steroid Rebound Phenomenon as a Cause of Delayed Cerebral Vasospasm in Post-Splenectomy Pneumococcal Meningitis: A Case Report
Authors: Daiki Yokoyama, Hajime Ikenouchi, Tatsuo Miyamoto, Naoki Yamamoto, Kaoru Endo
Journal: Cureus (2023)
Keywords: cerebral infarction, overwhelming post-splenectomy infection, pneumococcal meningitis, steroid rebound phenomenon, vasospasm
MeSH terms: Case Reports

Pneumococcal meningitis as an overwhelming post-splenectomy infection (OPSI) has a higher risk of neurological complications and is sometimes life-threatening. In acute pneumococcal meningitis, four days of dexamethasone is widely used for the prevention of neurological complications. Herein, we report a 68-year-old woman with the diagnosis of pneumococcal meningitis as OPSI. With adequate antibiotics and dexamethasone, her symptoms gradually improved. However, after dexamethasone withdrawal, her consciousness got worse and got into a coma. Brain magnetic resonance imaging revealed acute cerebral infarctions in the bilateral middle cerebral artery territory with multiple vascular stenoses and hydrocephalus. Vascular stenoses improved by follow-up, suggesting cerebral vasospasm. There were no suggestive findings of cerebral vasculitis. Follow-up cerebrospinal fluid analysis showed remained pleocytosis with no bacteria, which could not suggest meningitis recurrence. Since steroid therapy was rapidly withdrawn, we diagnosed that the cerebral vasospasm was due to the steroid rebound phenomenon. The steroid rebound phenomenon due to the excessive immune response to bacterial microstructures has been reported in pneumococcal meningitis. Especially, the present case was asplenia and the usual dexamethasone use would not adequately suppress the immune response to bacterial microstructures. Since pneumococcal meningitis as OPSI has a higher risk of neurological complications, clinicians should consider longer and more cautious steroid tapering.
Successful Treatment of Well-Developed Accessory Lower Limb Associated with Spinal Dysraphism
Authors: Muhammad Saaiq, Faridullah Khan Zimri, Khaleeq-Uz Zaman
Journal: World J Plast Surg (2020)
Keywords: accessory lower limb, lipomyelomeningocele, spina bifida, spinal dysraphism
MeSH terms: Case Reports

Accessory lower limb with spinal dysraphism are amongst the rarest known anomalies. We successfully managed a 5-months old female infant with surgical ablation of the accessory lower limb and repair of the associated large lipomyelomeningocele. A comprehensive review of the relevant literature was undertaken and presented herein. A classification system for accessory lower limb is also proposed.
Persistent umbilical discharge from an omphalomesenteric duct cyst containing gastric mucosa
Authors: Kanimozhi Tamilselvan, Arunodaya Mohan, Sarah Cheslyn-Curtis, Michael Eisenhut
Journal: Case Rep Pediatr (2012)
MeSH terms: Case Reports

Umbilical discharge in infancy is often attributed to infection or an umbilical granuloma. It is important to investigate if such a discharge is due to an underlying congenital abnormality because corrective surgical intervention may then be required. We present the first case of an infant with a persistent umbilical discharge from an omphalomesenteric duct cyst. The discharge was associated with periumbilical dermatitis. The dermatitis was most likely due to irritation of the skin by gastric acid produced by the ectopic gastric mucosa contained in the omphalomesenteric duct cyst. Both discharge and dermatitis resolved after surgical removal of the cyst.
Platelet-rich-fibrin: A novel root coverage approach
Authors: K Anilkumar, A Geetha, Umasudhakar, T Ramakrishnan, R Vijayalakshmi, E Pameela
Journal: J Indian Soc Periodontol (2009)
Keywords: plasma rich-derivative (prf membrane), recession, regeneration, repair
MeSH terms: Case Reports

Treatment of gingival recession has become an important therapeutic issue due to increasing cosmetic demand. Multiple surgical procedures have been developed to obtain predictable esthetic root coverage. More specifically, after periodontal regenerative surgery, the aim is to achieve complete wound healing and regeneration of the periodontal unit. A recent innovation in dentistry is the preparation and use of platelet-rich plasma (PRP), a concentrated suspension of the growth factors, found in platelets. These growth factors are involved in wound healing and postulated as promoters of tissue regeneration. This paper reports the use of PRF membrane for root coverage on the labial surfaces of the mandibular anterior teeth. This was accomplished using laterally displaced flap technique with platelet rich fibrin (PRF) membrane at the recipient site.
Hereditary Sensory and Autonomic Neuropathy 2B Caused by a Novel RETREG1 Mutation (c.765dupT) and Paternal Uniparental Isodisomy of Chromosome 5
Authors: Geun-Young Park, Dae-Hyun Jang, Dong-Woo Lee, Ja-Hyun Jang, Joungsu Joo
Journal: Front Genet (2019)
Keywords: consanguineous marriage, frameshift mutation, hereditary sensory and autonomic neuropathy, homozygous, uniparental isodisomy
MeSH terms: Case Reports

Hereditary sensory and autonomic neuropathy (HSAN) 2B is a rare disease and has been reported mostly in offspring of consanguineous parents. Here we report the case of a patient born to non-consanguineous parents who was diagnosed with HSAN 2B caused due to a novel frameshift mutation (NM_001034850.2: c.765dupT/p.Gly256TrpfsTer7) in the RETREG1 gene and paternal uniparental isodisomy of chromosome 5. Uniparental isodisomy of chromosome 5 is also a rare condition, and these two rare events lead to homozygous expression of a recessive mutation, as in the present case. Clinicians should be aware that autosomal recessive disorders due to homozygous variants can occur because of uniparental disomy in offspring of non-consanguineous parents.
Omalizumab for STAT3 Hyper-IgE Syndromes in Adulthood: A Case Report and Literature Review
Authors: Jun Lan, Yi Zhang, Min Song, Shan Cai, Hong Luo, Ruoyun OuYang, Pan Yang, Xiaoliu Shi, Yingjiao Long, Yan Chen
Journal: Front Med (Lausanne) (2022)
Keywords: stat3 gene, allergy bronchopulmonary aspergillosis, case report, hyper-ige syndrome, omalizumab
MeSH terms: Case Reports

Background:
Hyper-immunoglobulin E (IgE) syndromes (HIES) are a group of primary immune deficiencies disorders (PID) characterized by elevated serum IgE, eczema, recurrent skin, or respiratory system infections and may also be accompanied by some connective tissues and skeletal abnormalities. Currently, there is no complete cure or targeted treatment for HIES. Omalizumab is a humanized recombinant monoclonal antibody against IgE, reducing the level of free IgE, inhibiting the binding of IgE to receptors on the surface of effector cells, and reducing the activation of inflammatory cells and the release of multiple inflammatory mediators. However, the effect of omalizumab in treating HIES remains unknown. Herein, we described a case of an AD-HIES patient with chronic airway disease who benefited from omalizumab treatment.
Case presentation:
A 28-year-old Chinese woman was admitted for recurrent cough for 7 years, markedly elevated serum IgE level, and recurrent pneumonia caused by multiple pathogens, such as Pneumocystis jirovecii, Cytomegalovirus, Staphylococcus aureus, Aspergillus, and Mycobacterium tuberculosis. She had eczema-dermatitis, skin abscess, slightly traumatic fracture since childhood, and developed asthma and allergic bronchopulmonary aspergillosis (ABPA) lately. Using whole-exome sequencing, the STAT3 (c.1294G>T, p.Val432Leu) missense mutation for the autosomal dominant hyper-IgE syndrome was identified, and omalizumab was prescribed at 300 mg every 2 weeks. The patient responded well with the improvement of respiratory symptoms and lung function tests. The level of serum IgE remained stable on follow-up.
Conclusion:
Omalizumab treatment proved beneficial in the case of HIES, especially with chronic airway disease, for which therapeutic options are limited. However, larger-scale prospective studies and long-term follow-up are required to establish the efficacy and safety of this therapeutic intervention.
Case Report of Novel Genetic Variant in KCNT1 Channel and Pharmacological Treatment With Quinidine. Precision Medicine in Refractory Epilepsy
Authors: M C Kravetz, M S Viola, J Prenz, M Curi, G F Bramuglia, S Tenembaum
Journal: Front Pharmacol (2021)
Keywords: hplc, tdm, epilepsy, pharmacogenomics, pharmacokinetics, precision medicine, quinidine
MeSH terms: Case Reports

Case introduction: In this work we present a female infant patient with epilepsy of infancy with migrating focal seizures (EIMFS). Although many pharmacological schemes were attempted, she developed an encephalopathy with poor response to antiepileptic drugs and progressive cerebral dysfunction. Aim: To present the pharmacological response and therapeutic drug monitoring of a paediatric patient with a severe encephalopathy carrying a genetic variant in KCNT1 gene, whose identification led to include quinidine (QND) in the treatment regimen as an antiepileptic drug. Case report: Patient showed slow rhythmic activity (theta range) over left occipital areas with temporal propagation and oculo-clonic focal seizures and without tonic spasms three months after birth. At the age of 18 months showed severe impairments of motor and intellectual function with poor eye contact. When the patient was 4 years old, a genetic variant in the exon 24 of the KCNT1 gene was found. This led to the diagnosis of EIMFS. Due to antiepileptic treatment failed to control seizures, QND a KCNT1 blocker, was introduced as a therapeutic alternative besides topiramate (200 mg/day) and nitrazepam (2 mg/day). Therapeutic drug monitoring (TDM) of QND plasma levels needed to be implemented to establish individual therapeutic range and avoid toxicity. TDM for dose adjustment was performed to establish the individual therapeutic range of the patient. Seizures were under control with QND levels above 1.5 mcg/ml (65-70 mg/kg q. i.d). In addition, QND levels higher than 4.0 mcg/ml, were related to higher risk of suffering arrhythmia due to prolongation of QT segment. Despite initial intention to withdrawal topiramate completely, QND was no longer effective by itself and failed to maintain seizures control. Due to this necessary interaction between quinidine and topiramate, topiramate was stablished in a maintenance dose of 40 mg/day. Conclusion: The implementation of Precision Medicine by using tools such as Next Generation Sequencing and TDM led to diagnose and select a targeted therapy for the treatment of a KCNT1-related epilepsy in a patient presented with EIMFS in early infancy and poor response to antiepileptic drugs. QND an old antiarrhythmic drug, due to its activity as KCNT1 channel blocker, associated to topiramate resulted in seizures control. Due to high variability observed in QND levels, TDM and pharmacokinetic characterization allowed to optimize drug regimen to maintain QND concentration between the individual therapeutic range and diminish toxicity.
Low-grade malignant triton tumor of the neck: a case report and review of the literature
Authors: Taissir Omar, Hanaa Raslan, Sahar El Sheikh, Moataz Rizq, Awatef Draz
Journal: Case Rep Pathol (2014)

Rhabdomyoblastic differentiation in a malignant peripheral nerve sheath tumor (MPNST) is termed malignant triton tumor (MTT), a rare neoplasm that poses a diagnostic dilemma in the differential diagnosis of neck masses and portends poor prognosis. We report a sporadic case of MTT of the neck in a 23-year-old female. We present the pathological findings. Immunohistochemistry confirmed the neurogenic origin with S-100 expression and the rhabdomyoblastic differentiation with desmin and vimentin positivity. Radical surgical excision was done. After 4 years there were no signs of recurrence or distant metastasis. The clinical, microscopic, and long-term follow-up of this case are consistent with those of a low-grade malignancy.
Case report: Applicability of breastfeeding the child of a patient with kidney failure with replacement therapy
Authors: Elena V Kondakova, Anastasia E Filat'eva, Nadezhda A Lobanova, Egor I Nagaev, Ruslan M Sarimov, Sergey V Gudkov, Maria V Vedunova
Journal: Front Med (Lausanne) (2023)
Keywords: kidney failure with replacement therapy (kfrt), biochemistry, breastfeeding, case report, immunology, molecular physics
MeSH terms: Case Reports

This case report highlights the benefit or harm of breastfeeding in a patient with Kidney Failure with Replacement Therapy (KFRT) undergoing program hemodialysis. This is a unique clinical case, as pregnancy and successful delivery are rare in this group of females. With a favorable outcome, the possibility of breastfeeding is especially relevant for doctors and the mother. The patient was a 31-year-old female who was diagnosed in 2017 with end-stage renal disease associated with chronic glomerulonephritis. Against the background of hemodialysis, pregnancy, accompanied by polyhydramnios, anemia, and secondary arterial hypertension, occurred in 2021. At 37 weeks, a healthy, full-term baby girl was born, and breastfeeding was started. In this study, we conducted a detailed analysis of toxic substances and immunologically significant proteins using high-tech analysis methods. In addition, we studied different portions of milk before and after hemodialysis at different time intervals. After a wide range of experiments, our study did not reveal an optimal time interval for breastfeeding a baby. Despite the decrease in the level of the major uremic toxins 4 h after the hemodialysis procedure, their level remained high. In addition, the content of nutrients did not reach acceptable limits and the immune status was characterized as pro-inflammatory. In our opinion, breastfeeding is not advisable for this group of patients since the concentration of nutrients is low, and the content of toxic substances exceeds the permissible limits. In this clinical case, the patient decided to stop breastfeeding one month after delivery due to insufficient breast milk and the inability to express it in a certain period of time.
Reversal of portal gastropathy with partial internal biliary diversion in a case of progressive familial intrahepatic cholestasis
Authors: Arkadeep Dhali, B Rathna Roger, Elaina Pasangha, Christopher D'Souza, Gopal Krishna Dhali
Journal: Qatar Med J (2021)
Keywords: end stage liver disease, molecular chaperones, partial internal biliary diversion, portal gastropathy, progressive familial intrahepatic cholestasis
MeSH terms: Case Reports

Progressive intrahepatic cholestasis is a rare, genetic disorder causing bile acid secretion or transport defects. It can result in intrahepatic cholestasis that can progress to end-stage liver disease. Diagnosis is made using a combination of clinical and biochemical approaches. Genetic testing is currently the gold standard for investigation. We report a case of an 18-month-old male child with cholestatic pattern of jaundice from 16 months of life, which was associated with features suggestive of portal gastropathy. Detailed workup led to the diagnosis of progressive intrahepatic cholestasis (type 2). Early diagnosis prevented the need for liver transplant, and the child underwent surgical treatment with partial internal biliary diversion. Portal gastropathy and disease progression dramatically changed with corrective surgery. The patient was symptom-free at 10-week follow-up. Detecting this rare genetic disorder early has very good therapeutic implications from the patient's perspective and their morbidity and mortality profile; if untreated, it has a high propensity to progress to end-stage liver disease. The requirement of surgical interventions and liver transplantation is individualized on a case-to-case basis. An early diagnosis and initiation of treatment can prevent the need for a liver transplant as shown in the present case.
Case Report: The third-generation sequencing confirmed a novel 7.2 Kb deletion at β-globin gene in a patient with rare β-thalassemia
Authors: Guoxing Zhong, Zeyan Zhong, Zhiyang Guan, Dina Chen, Zhiyong Wu, Kunxiang Yang, Dan Chen, Yinyin Liu, Ruofan Xu, Jianhong Chen
Journal: Front Genet (2022)
Keywords: breakpoint, deletion, thalassemia, third-generation sequencing, β-globin gene
MeSH terms: Case Reports

Background: Thalassemia was the most common monogenic diseases worldwide, which was caused by mutations, deletions or duplications in human globin genes which disturbed the synthesis balance between α- and β-globin chains of hemoglobin. There were many classics methods to diagnose thalassemia, but all of them had limitations. Although variations in the human β-globin gene cluster were mainly point mutations, novel large deletions had been described in recent years along with the development of DNA sequencing technology. Case report: We present a case of 32-year-old male with abnormal hematological results. However, 23 genotypes of the most common thalassemia were not detected by two independent conventional platforms. Finally, using multiplex ligation-dependent probe amplification (MLPA), third-generation sequencing (TGS) and Gap PCR detection methods, we first confirmed the case with a novel 7.2 Kb deletion (Chr11:5222800-5230034, hg38) located at HBB gene. Conclusion: Our results showed that TGS technology was a powerful tool for thalassemia breakpoint detection, had promising potentiality in genetic screening of novel thalassemia, especially for the novel deletions in globin genes.
Death due to acute Chagas -related myocarditis in a child: a case report
Authors: Theresa Cristina Cardoso da Silva, Karina Balestreiro Silva, Clemilda Soares Marques, Janaína Aparecida Schineider Casotti, Eveline de Fátima Almeida Fonseca Eduardo, Jane Sant'ana Castello, Maria Augusta Dario, Juliana Rodrigues Tovar Garbin, Sandra Fagundes Moreira-Silva
Journal: Rev Soc Bras Med Trop (2020)
MeSH terms: Chagas Cardiomyopathy / diagnosis, Case Reports, Acute Disease, Autopsy, Child, Preschool, Fatal Outcome, Humans, Male

This is a case report about the only confirmed death in the State of Espírito Santo due to acute Chagas-related myocarditis in a 2-year-old child living in the rural area of Guarapari. He presented with fever, abdominal pain, headache, and vomiting, resulting in death 21 days after the presentation of symptoms. Amastigote forms were observed in the myocardial fibers in histological examination. The boy's mother had reported finding "kissing bugs" in the child's hand. This case highlights the need to include Chagas disease in the differential diagnosis in health care to provide early treatment and avoid death in affected individuals.