OpenMed/multicare-articles huggingface dataset:
A unique case of lemierre syndrome associated with thrombophilia in an adult and the role of anticoagulation
Authors: Pradeep H Lakshminarayana, Matthew E Woodske
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

Acute septic thrombophlebitis of the internal jugular vein (IJV), better known as Lemierre syndrome, is a rare entity which poses several challenges in management. Treatment involves prompt use of intravenous antibiotics over a prolonged period of time, typically 6-8 weeks. The use of anticoagulation is controversial, but indicated for some. We describe the first reported case of Lemierre syndrome associated with a hypercoagulable state in an adult. We propose that all patients with Lemierre syndrome should be evaluated for hypercoagulable states and that the indications for anticoagulation in Lemierre syndrome are (1) propagation or nonresolution of IJV thrombus despite antibiotics and (2) identification of a hypercoagulable state, as in our case.
Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report
Authors: Sonoko Sakata, Satoshi Okada, Kohei Aoyama, Keiichi Hara, Chihiro Tani, Reiko Kagawa, Akari Utsunomiya-Nakamura, Shinichiro Miyagawa, Tsutomu Ogata, Haruo Mizuno, Masao Kobayashi
Journal: Front Genet (2017)
Keywords: charge syndrome, chd7, kmt2d, kabuki syndrome, phenotypic overlap

We report a Japanese female patient presenting with classic features of CHARGE syndrome, including choanal atresia, growth and development retardation, ear malformations, genital anomalies, multiple endocrine deficiency, and unilateral facial nerve palsy. She was clinically diagnosed with typical CHARGE syndrome, but genetic analysis using the TruSight One Sequence Panel revealed a germline heterozygous mutation in KMT2D with no pathogenic CHD7 alterations associated with CHARGE syndrome. Kabuki syndrome is a rare multisystem disorder characterized by five cardinal manifestations including typical facial features, skeletal anomalies, dermatoglyphic abnormalities, mild to moderate intellectual disability, and postnatal growth deficiency. Germline mutations in KMT2D underlie the molecular pathogenesis of 52-76% of patients with Kabuki syndrome. This is an instructive case that clearly represents a phenotypic overlap between Kabuki syndrome and CHARGE syndrome. It suggests the importance of considering the possibility of a diagnosis of Kabuki syndrome even if patients present with typical symptoms and meet diagnostic criteria of CHARGE syndrome. The case also emphasizes the impact of non-biased exhaustive genetic analysis by next-generation sequencing in the genetic diagnosis of rare congenital disorders with atypical manifestations.
Case Report: Rapid Recognition and Immune Modulation of Secondary HLH Due to Disseminated HSV Infection
Authors: Daniel J McKeone, Theodore K M DeMartini, Robert P Kavanagh, E Scott Halstead
Journal: Front Pediatr (2021)
Keywords: hemophagocytic lymphohistiocytosis, herpes simplex virus, hyperferritinemic syndrome, immune modulation, multiple organ dysfunction syndrome
MeSH terms: Case Reports

We describe the case of a newborn who presented with multiple organ dysfunction syndrome (MODS) and hyperferritinemia, who eventually met criteria for hemophagocytic lymphohistiocytosis (HLH) due to disseminated herpes simplex virus 1 (HSV-1). While the cytokine storm abated after administration of multiple immune modulatory therapies including dexamethasone, etoposide, intravenous immune globulin, anakinra, as well as the interferon gamma antagonist emapalumab, multiple organ dysfunction syndrome progressed. Care was withdrawn after 5 days. Subsequent genetic testing did not reveal any mutations associated with familial HLH. This case highlights that even with appropriate antiviral treatment and immune suppression, disseminated HSV is often fatal. Further study is warranted to determine whether early immune modulatory therapy including interferon gamma blockade can interrupt the HLH inflammatory cascade and prevent progression of MODS.
Early diagnosis of Gorlin-Goltz syndrome: case report
Authors: Ana R Casaroto, Daniela C N Rocha Loures, Eduardo Moreschi, Vanessa C Veltrini, Cleverson L Trento, Vilmar D Gottardo, Vanessa S Lara
Journal: Head Face Med (2011)
MeSH terms: Early Diagnosis, Case Reports, Basal Cell Nevus Syndrome / diagnosis, Biopsy, Child, Diagnosis, Differential, Humans, Male, Tomography, X-Ray Computed

The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by keratocystic odontogenic tumors (KCOT) in the jaw, multiple basal cell nevi carcinomas and skeletal abnormities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the KCOTs are usually one of the first manifestations of the syndrome. This article paper reports the case of a patient, a 10-year-old boy with NBCCS, emphasizing its clinical and radiographic manifestations. This study highlights the importance of health professionals in the early diagnosis of NBCCS and in a preventive multidisciplinary approach to provide a better prognosis for the patient.
Sands of sahara after LASIK in avellino corneal dystrophy
Authors: Flavio Mantelli, Alessandro Lambiase, Antonio Di Zazzo, Stefano Bonini
Journal: Case Rep Ophthalmol Med (2012)
MeSH terms: Case Reports

We report the case of a patient diagnosed with Avellino corneal dystrophy (ACD) who developed diffuse interstitial keratitis following excimer laser insitu keratomileusis (LASIK). ACD is an autosomal dominant corneal dystrophy characterized by multiple asymmetric stromal opacities that impair vision. Accepted treatments for this condition include corneal transplantation and phototherapeutic keratectomy (PTK). Our patient underwent LASIK at another institution to correct myopia. LASIK and photorefractive keratectomy (PRK) are usually contraindicated in ACD for the high risk of disease recurrence and postoperative complications. The patient came to our attention lamenting blurry vision, decreased visual acuity, and photophobia. Ophthalmologic examination revealed bilateral interstitial keratitis, also known as "sands of Sahara", a seldom-seen complication of LASIK characterized by fine and diffuse granular infiltrates at the surgical flap interface.The risk of developing interstitial keratitis, as in the case presented here, represents another valid reason for avoiding LASIK in patients with ACD.
Central Venous Catheter-Related Tachycardia in the Newborn: Case Report and Literature Review
Authors: Aya Amer, Roland S Broadbent, Liza Edmonds, Benjamin J Wheeler
Journal: Case Rep Med (2016)

Central venous access is an important aspect of neonatal intensive care management. Malpositioned central catheters have been reported to induce cardiac tachyarrhythmia in adult populations and there are case reports within the neonatal population. We present a case of a preterm neonate with a preexisting umbilical venous catheter (UVC), who then developed a supraventricular tachycardia (SVT). This was initially treated with intravenous adenosine with transient reversion. Catheter migration was subsequently detected, with the UVC tip located within the heart. Upon withdrawal of the UVC and a final dose of adenosine, the arrhythmia permanently resolved. Our literature review confirms that tachyarrhythmia is a rare but recognised neonatal complication of malpositioned central venous catheters. We recommend the immediate investigation of central catheter position when managing neonatal tachyarrhythmia, as catheter repositioning is an essential aspect of management.
Acute respiratory distress syndrome and acute myocarditis developed in a previously healthy adult with influenza B
Authors: Hsu-Liang Chang, Jui-Feng Hsu, Ying-Ming Tsai, Shang-Yi Lin, Hsuan-Fu Kuo, Chih-Jen Yang
Journal: BMC Pulm Med (2016)
MeSH terms: Influenza, Human / diagnosis, Myocarditis / diagnosis, Respiratory Distress Syndrome / diagnosis, Case Reports, Acute Disease, Adult, Anti-Bacterial Agents / therapeutic use, Echocardiography, Humans, Influenza B virus / genetics, Influenza, Human / therapy, Influenza, Human / virology, Magnetic Resonance Imaging, Male, Myocarditis / therapy, Myocarditis / virology, Real-Time Polymerase Chain Reaction, Respiration, Artificial, Respiratory Distress Syndrome / therapy, Respiratory Distress Syndrome / virology, Tomography, X-Ray Computed, Anti-Bacterial Agents

Background:
Influenza B virus infection is generally considered to be mild and is rarely associated pulmonary cardiovascular involvement in adults. However fatal complications may occur.
Case presentation:
A 43-year-old previously healthy Taiwanese male came to our emergency department due to high fever, chills, general malaise and myalgia for about 4 days. An influenza rapid test from a throat swab was negative. Chest radiography showed mild left lung infiltration and levofloxacin was prescribed. However, progressive shortness of breath and respiratory failure developed 48 h later after hospitalization. Emergent intubation was performed and he was transferred to the intensive care unit where oseltamivir (Tamiflu, Roche) 75 mg orally twice daily was given immediately. In the intensive care unit, cardiac catheterization revealed normal coronary arteries. However, a markedly elevated cardiac enzyme level (Troponin I level was up to 71.01 ng/ml), a positive cardiac magnetic resonance imaging findings and no coronary artery stenosis led to the diagnosis of acute myocarditis. Subsequent real-time polymerase chain reaction of endotracheal aspirates was positive for influenza B. His condition gradually improved and he was successfully weaned from the ventilator on day 22. He was discharged without prominent complications on day 35.
Conclusion:
Influenza B infection is not always a mild disease. Early detection, early administration of antiviral agents, appropriate antibiotics and best supportive care, is still the gold standard for patients such as the one reported.
Prosthetic valve endocarditis due to Candida parapsilosis - a rare case report
Authors: Shivang Sharma, Subhashree Samantaray, Deepak Kumar, Durga Shankar Meena, Rahul Chaudhary, Vidhi Jain, Gopal Krishana Bohra, Mahendra Kumar Garg
Journal: Access Microbiol (2023)
Keywords: candida parapsilosis, combined surgery and antifungal treatment, endocarditis
MeSH terms: Case Reports

Fungal endocarditis is a rare and fatal condition, most frequently caused by species of the genera Candida and Aspergillus. Fever and changing heart murmur are the most common clinical manifestations. The diagnosis of fungal endocarditis is challenging, with prosthetic valve endocarditis being extremely difficult to diagnose. The optimal management of the condition still remains debatable. We present a case of prosthetic valve endocarditis caused by Candida parapsilosis, managed empirically with liposomal amphotericin B, which was later shifted to combination therapy with high-dose echinocandin and fluconazole, but had a fatal outcome because the patient could not undergo timely surgical intervention. Treating C. parapsilosis endocarditis cases is difficult because of their biofilm production on native and prosthetic heart valves. A combined approach consisting of a high index of clinical suspicion, early diagnosis using serological markers followed by culture or PCR and prompt initiation of appropriate antifungals may aid in improving outcomes.
Case Report: Novel Biallelic Variants in DNAJC21 Causing an Inherited Bone Marrow Failure Spectrum Phenotype: An Odyssey to Diagnosis
Authors: Adela Chirita-Emandi, Carmen-Angela-Maria Petrescu, Cristian G Zimbru, Florina Stoica, Catalin Marian, Andreea Ciubotaru, Mihaela Bataneant, Maria Puiu
Journal: Front Genet (2022)
Keywords: dnajc21 gene, shwachman–diamond syndrome, bone marrow failure syndrome, ribosomopathy, telomeres
MeSH terms: Case Reports

Bone marrow failure represents an umbrella diagnosis for several life-threatening disorders. In many people, the etiology remains unknown for a long time, leading to an odyssey to diagnosis, with numerous tests performed and sometimes inappropriate treatment. Biallelic pathogenic variants in the DNAJC21 gene were recently discovered to cause bone marrow failure syndrome type 3, having phenotypic overlap with Fanconi anemia, dyskeratosis congenita, Shwachman-Diamond syndrome, and Diamond-Blackfan anemia. Herein, we report an 8-year-old boy, with normal intellect, presenting bone marrow failure; growth retardation; failure to thrive; recurrent infections (including sepsis); cryptorchidia; skeletal, skin, teeth, and hair abnormalities; joint hypermobility; eczema; palpebral ptosis; high myopia; rod-cone retinal dystrophy; and short telomeres. He underwent several tests and evaluations, including genetic investigations (panel and exome sequencing), before the DNAJC21 gene was known to cause disease. Whole-genome sequencing performed at the age of 7 years, identified two novel, pathogenic, and compound heterozygous variants in the DNAJC21 gene: NM_001012339.3:c.148C>T (stopgain-maternal origin), p.Gln50∗ and c.643_644delinsTTT (frameshift paternal origin), and p.Lys215Phefs∗71. He received aggressive treatments for his multisystem disease: blood cell transfusions, high-dose corticosteroids, immunoglobulins, multiple antibiotics, vitamins, growth hormone, and others. However, allogeneic hematopoietic stem cell transplantation was avoided. The clinical evolution of bone marrow failure and recurrent infections stabilized with age, yet the myopia progressed. Exocrine pancreatic insufficiency was not detected. This report widens the molecular and clinical understanding of bone marrow failure syndrome type 3. Genome sequencing directed a precise diagnosis that improved patient management and enabled family genetic counseling.
Pregnancy-induced obsessive compulsive disorder: a case report
Authors: Harish Kalra, Rajul Tandon, Jitendra Kumar Trivedi, Aleksandar Janca
Journal: Ann Gen Psychiatry (2005)

Pregnancy is a well-recognised risk factor in precipitating obsessive-compulsive disorder. We present and discuss a case with the onset of obsessive-compulsive disorder in the fourth month of gestation, which fully recovered two weeks after delivery. The phenomenology of the observed disorder was similar to earlier reports of obsessive-compulsive disorder in pregnancy, i.e. the obsessions and compulsions were predominantly related to the concern of contaminating the foetus resulting in washing compulsions. Despite the initial success with anti-obsessional drugs, the patient stopped the medication in the last month of gestation. Nevertheless, she fully recovered two weeks after the delivery without any psychiatric intervention. There were no obsessive-compulsive symptoms at one-year follow up. The possible mechanisms involved in the aetiology of this case, and future research directions in understanding the role of pregnancy in OCD are discussed.
Case Report: Phloroglucinol-Induced Kounis Syndrome
Authors: Hao-Yu Wu, Tian-Jiao Gao, Yi-Wei Cao, Peng-Hua You
Journal: Front Cardiovasc Med (2021)
Keywords: kounis syndrome, allergy, chest pain, intravascular ultrasound, phloroglucinol
MeSH terms: Case Reports

Background: Kounis syndrome is an allergy-related acute coronary syndrome that is induced by various pharmacological and environmental factors. Given that many clinicians are not aware of this condition, many cases may be underdiagnosed. We report a case of type II Kounis syndrome induced by phloroglucinol. Case Summary: A 52-year-old man with pre-existing coronary artery stenosis presented with a 30-min history of chest pain and erythematous rash after intramuscular administration of phloroglucinol. An electrocardiogram demonstrated ST-segment elevation in leads II, III and aVF. Emergency coronary angiography revealed severe stenosis in the distal right coronary artery. Intravascular ultrasound showed plaque rupture and thrombosis, and the minimum lumen area was 3.0 mm2. A 3.5 × 38 mm stent was implanted in the distal right coronary artery. Troponin I levels were elevated. A diagnosis of type II Kounis syndrome induced by phloroglucinol was made, and the condition manifested as acute ST-segment elevation myocardial infarction. Conclusions: Clinicians should be aware of Kounis syndrome as a possible diagnosis in a patient who presents with chest pain and allergic manifestations given that an increasing number of triggers are being reported.
Recovery of Repressed Memories in Fibromyalgia Patients Treated With Hyperbaric Oxygen - Case Series Presentation and Suggested Bio-Psycho-Social Mechanism
Authors: Shai Efrati, Amir Hadanny, Shir Daphna-Tekoah, Yair Bechor, Kobi Tiberg, Nimrod Pik, Gil Suzin, Rachel Lev-Wiesel
Journal: Front Psychol (2018)
Keywords: biopsychophysical mechanism, childhood sexual abuse, fibromyalgia, hyperbaric oxygen, repressed memories

Fibromyalgia Syndrome (FMS) is a condition considered to represent a prototype of central sensitization syndrome, characterized by chronic widespread pain and along with symptoms of fatigue, non-restorative sleep and cognitive difficulties. FMS can be induced by trauma, infection or emotional stress with cumulative evidence that dissociation is relatively frequent in FMS patients. Two randomized controlled trials have shown that hyperbaric oxygen therapy (HBOT) can induce neuroplasticity and be effective in patients suffering from FMS. In this paper we present, for the first time, case series of female fibromyalgia patients who, in the course of HBOT, suddenly recalled repressed traumatic memories of childhood sexual abuse (CSA). The surfacing of the repressed (dissociative) memories decades after the sexual abuse events was sudden and utterly surprising. No psychological intervention was involved. As the memories surfaced, the physical pain related to FMS subsided. In one patient who had brain single photon emission CT (SPECT) before and after HBOT, the prefrontal cortex appeared suppressed before and reactivated after. The 3 cases reported in this article are representative of a total of nine fibromyalgia patients who experienced a retrieval of repressed memory during HBOT. These cases provide insights on dissociative amnesia and suggested mechanism hypothesis that is further discussed in the article. Obviously, prospective studies cannot be planned since patients are not aware of their repressed memories. However, it is very important to keep in mind the possibility of surfacing memories when treating fibromyalgia patients with HBOT or other interventions capable of awakening dormant brain regions.
Acute motor axonal neuropathy in a child with atypical presentation: a case report
Authors: Kyung Soo Lee, Seung Hoon Han
Journal: Medicine (Baltimore) (2015)
MeSH terms: Action Potentials / physiology, Guillain-Barre Syndrome / diagnosis, Guillain-Barre Syndrome / physiopathology, Sensory Receptor Cells / physiology, Case Reports, Research Support, Non-U.S. Gov't, Review, Acute Disease, Child, Preschool, Electrophysiological Phenomena / physiology, Humans, Male, Pain Measurement

Acute motor axonal neuropathy (AMAN) is a variant of Guillain-Barre syndrome. It has been reported to have no sensory symptoms and is diagnosed by typical electrophysiological findings of low-amplitude or unobtainable compound muscle action potentials with normal sensory nerve action potentials. However, the authors experienced atypical case of general electrophysiological findings of AMAN with pain and paresthesia and presented it. This case implies that clinician should be on the alert to atypical sensory symptoms from the classical presentation of AMAN even if the patient is diagnosed with AMAN electrophysiologically and should consider proper treatment options based on clinical presentations.
Detection of the "Crossed Aorta Sign" during Echocardiography before Angiography
Authors: Laura Massobrio, Alberto Valbusa, Giovanni Bertero, Fabrizio Montecucco, Gian Marco Rosa, Gian Paolo Bezante, Claudio Brunelli
Journal: Case Rep Cardiol (2017)
MeSH terms: Case Reports

We report the case of an anomalous circumflex (Cx) origin from the right sinus of Valsalva with retroaortic course observed in a modified apical four-chamber view during transthoracic study (TTE). This finding is known as the "crossed aorta sign." Usually, the diagnosis of this congenital anomaly of coronary circulation is established during coronary angiography. In this case, the diagnosis was performed by echocardiography before angiography. We believe that recent improvements in echocardiography increase the potential of this imaging technology also in the diagnosis of coronary artery anomalies.
Corticobasal Syndrome Associated with Antiphospholipid Syndrome Secondary to Systemic Lupus Erythematosus
Authors: Ritsuo Hashimoto, Tomoko Ogawa, Asako Tagawa, Hiroyuki Kato
Journal: Case Rep Neurol Med (2018)
MeSH terms: Case Reports

We report the case of a 53-year-old woman diagnosed with corticobasal syndrome (CBS) due to antiphospholipid syndrome (APS) secondary to systemic lupus erythematosus. Brain MRI showed marked cortical atrophy, several small infarctions in the deep white matter, and mild white matter changes, all of which were probably due to thrombosis manifestations of APS and could also be related to the CBS. To the best of our knowledge, this is the fourth reported case of CBS due to APS. It is noteworthy that although the common underlying pathologies of the CBS are neurodegenerative diseases, either primary or secondary APS can manifest itself as the CBS.