Echovirus-7 Infection in Children with Unusual Severe Manifestation: A Case Report.
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ABSTRACT:
SUBMITTER: Pudjiadi AH
PROVIDER: S-EPMC8032922 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Hand-Foot-Genital Syndrome (HFGS) is a dominantly inherited condition and one of the rarest cases encountered in clinical practice. It might be presented with a wide variety of limb malformations and urogenital defects manifestations. In this report, a unique and novel case of HFGS accompanied with Embryonal Rhabdomyosarcoma of the urinary bladder is described in a two-year-old male. The patient was admitted to the hospital in order to investigate a progressively enlarging mass in the lower abdomen. During hospitalization, oliguria was noted by resident physicians. However, hypospadias and dysmorphic abnormalities, demonstrated upon physical examination, were the cornerstone in the diagnosis of HFGS. An accurate visual examination of the abdomen showed dilated superficial veins, and abdominal rigidity appeared through palpation. Furthermore, the radiologic evaluation showed delayed ossification of carpal bones, and abdominal CT scan revealed a necrotic mass in the hypogastric region measuring 12 × 10 cm. A biopsy was performed through which the mass was confirmed as Embryonal Rhabdomyosarcoma of the urinary bladder. The kidney function follow-up showed normal results. Neoadjuvant chemotherapy was started to diminish the tumor size. However, the patient eventually passed away during the treatment phase. This report emphasizes the need for a high index of suspicion to establish early detection of Embryonal Rhabdomyosarcoma in each newborn diagnosed with Hand-Foot-Genital Syndrome (HFGS) to avoid potential fatal consequences.
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Project description:BackgroundMyocarditis is an inflammatory disease of the myocardium caused by infectious pathogens, immune-mediated conditions, or toxic agents. This report explores a rare case of severe myocarditis occurring in an inherited cardiomyopathy.Case summaryA 24-year-old female patient presented with progressing dyspnoea and chest discomfort. Echocardiography and cardiac magnetic resonance imaging revealed dilated cardiomyopathy (DCM) with severe biventricular dysfunction [left ventricle ejection fraction (LV-EF) 10%]. Myocardial inflammation was suspected due to extensive subendocardial to transmural late gadolinium enhancement. Endomyocardial biopsy (EMB) showed severe chronic lymphocytic myocarditis. As inflammatory DCM was assumed, immunosuppressive therapy with prednisolone was initiated in addition to standard heart failure therapy. Endomyocardial biopsy after 3 months showed resolving inflammation. However, a marked architectural disarray observed in all biopsies raised the suspicion of an inherited cardiomyopathy. Genetic testing revealed a de novo mutation with effect on splicing of lysosome-associated membrane protein 2, as found in Danon disease. Periodic acid-Schiff (PAS) staining confirmed a glycogen storage disorder. Immunosuppressive therapy was intensified due to reactivation of myocardial inflammation and led to improvement of LV-EF and to significant symptom relief over a 16-month follow-up period.DiscussionThis is the first report of Danon disease initially presenting as a severe myocarditis. It illustrates the clinical value of EMB for diagnosis and immunosuppressive therapy monitoring in chronic myocarditis. Increasing evidence suggests that myocardial inflammation may modify disease progression and prognosis in inherited cardiomyopathies. The causal role of cardiac protein mutations in the pathophysiology of myocarditis remains to be determined.
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Project description:This article presents a case of an HIV-infected paediatric patient with an unusual Mycobacterium genavense infection with predominantly abdominal organ involvement.
| S-EPMC6739527 | biostudies-literature
Project description:IntroductionOcular symptoms are uncommon manifestations of coronavirus disease 2019 (COVID-19) infection. Earlier study reported that dry eye, blurred vision, foreign body sensation, tearing, itching, conjunctival secretion, conjunctival congestion, ocular pain, and photophobia are among the ocular symptoms that could be found in COVID-19 patients. However, there are only a few reports available regarding corneal involvement in this disease. Here we report a case of keratoconjunctivitis as the only symptom of COVID-19 infection.Case descriptionA 27-year-old man who worked as an obstetrics and gynecology resident came to the outpatient clinic with the chief complaints of eye discomfort, foreign body sensation, conjunctival hyperemia, lacrimation, and photophobia in his right eye for the past 3 weeks. Fluorescence test showed a small corneal lesion. The patient was then diagnosed with keratoconjunctivitis. A week after the treatment, all symptoms were resolved. A month later, the patient came to the emergency room with the same eye complaints but with a more severe pain. The fluorescence test showed wider corneal lesion compared to last month. The result from the corneal swab is negative for bacterial or fungal infection, indicating a viral infection. Afterwards, reverse transcriptase polymerase chain reaction test from nasopharyngeal swab was performed and revealed that the patient was positive for COVID-19.ConclusionsThis case report showed that keratoconjunctivitis may occur as the only manifestation of COVID-19 infection. Thus, patient presented with unexplainable eye symptoms should be evaluated for COVID-19 infection.
| S-EPMC9294609 | biostudies-literature
Project description:BACKGROUND:Granulomatosis with polyangiitis (GPA), a necrotizing granulomatous disease, very rarely involves the central nervous system (CNS), particularly the pituitary. Delayed treatment may cause permanent bilateral blindness. We report an isolated case of pituitary GPA that manifested as a progressive bilateral temporal visual field (VF) defect and was diagnosed via pituitary biopsy. Additionally, we review ocular, chiasmal and cranial nerve involvement in pituitary GPA. CASE PRESENTATION:A 20-year-old Chinese man was referred for repeated fever, sudden headache, diplopia with a bilateral best-corrected visual acuity (BCVA) of 10/20, ptosis in both eyes and restricted abduction on the right side. VF tests showed bitemporal hemianopsia. Laboratory tests revealed hypothyroidism and were negative for autoimmune markers. Enhanced magnetic resonance imaging (MRI) showed pituitary enlargement. The diagnosis was lymphocytic pituitaritis. After intravenous (IV) dexamethasone treatment, full recovery occurred within 2 months. Two years later, the patient was readmitted for headache recurrence. With oral prednisone, the visual acuity in his right eye rapidly decreased to hand motion (HM) within one month. Enhanced MRI showed pituitary enlargement and a new, invasive suprasellar CNS lesion. All infection- and autoimmune-related tests were negative. The visual acuity in his right and left eye decreased to no light perception (NLP) after 6 days and 2 weeks, respectively. The biopsy results suggested GPA. After IV methylprednisolone treatment, complete remission of the symptoms occurred and was confirmed by MRI. The 15-month follow-up showed no signs of recurrence. CONCLUSION:GPA typically affects the respiratory tract, lungs and kidneys. To date, 50 cases with pituitary involvement have been reported. Chiasmal and cranial nerve involvement leading to visual acuity impairment are common. We found 2 cases with severe visual loss resembling our case and discuss certain similarities.
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Project description:BackgroundBioprosthetic tricuspid valve stenosis (TS) is an uncommon and frequently under-diagnosed condition. Although the resulting right heart failure symptoms are well-known, the associated thrombogenic potential is under-recognized.Case summaryA 44-year-old woman with bioprosthetic tricuspid valve (TV) replacement in 2001 was referred for urgent consultation due to acute worsening of dyspnoea and severe swelling and pain in her left arm and neck. She was diagnosed with atrial fibrillation 6 months before the presentation and was found to have right atrial (RA) thrombus with pulmonary embolism and extensive retrograde venous extension 1 month prior. Review of studies done at her local institution revealed 10 mmHg mean gradient (MG) across the bioprosthetic TV that was only reported as mild-moderate TS. Echocardiography done at our instruction confirmed suspicion of severe TS with calcified immobile leaflets. Computed tomography showed persistent RA thrombus and therefore surgical replacement of the TV was undertaken. Subsequently, patient's dyspnoea rapidly improved.DiscussionProgressive dyspnoea and symptoms of right heart failure in a patient with a history of bioprosthetic TV replacement should be investigated for prosthetic valve dysfunction. Due to its rarity, TS diagnosis can be overlooked on routine echocardiography. In our patient, despite a measured MG of 10 mmHg, the presence of critical TS was not initially recognized. As TS is associated with increased thrombogenic potential and given the rare occurrence of in situ RA thrombosis, physicians must have a high index of suspicion for TS in the appropriate clinical context.
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Project description:Background?Stent thrombosis is a serious and potentially life-threatening complication of percutaneous coronary intervention. It often presents dramatically, typically resulting in ST-elevation myocardial infarction which is associated with a high mortality rate. Premature discontinuation of antiplatelet therapy in the initial 30?days after stenting is arguably the most important predictor of stent thrombosis. In some cases, discontinuation of therapy is unintentional, such as in patients with short-bowel length or malabsorption syndromes.Case summary?A 70-year-old man presented to our hospital with stent thrombosis due to non-absorption of antiplatelet agents, 3?days after an elective percutaneous intervention to the right coronary artery. The patient, who had had a laparoscopic high anterior resection due to previous colorectal cancer, had noticed tablets passing whole into his colostomy bag. Repeat balloon angioplasty and stenting were performed and the patient received further antiplatelet therapy in a crushed form.Discussion?Drug absorption in the gastrointestinal tract is altered when a significant length of the gut has been resected. Reduced intestinal luminal transit time and insufficient contact time with intestinal mucosa leads to reduced bioavailability of drugs and increased risk of stent thrombosis. The aetiology of stent thrombosis can be investigated with intravascular imaging techniques and platelet function testing. Management includes using different drug formulations and doses and monitoring the outcomes of therapy. In some cases, it may also be appropriate to involve a gastroenterology team, preferably in the multidisciplinary environment of an intestinal rehabilitation centre.
| S-EPMC6764572 | biostudies-literature
Project description:BackgroundMyocardial infarction with non-obstructed coronary arteries (MINOCA) syndrome accounts for ∼6-8% of acute coronary syndrome presentations. Historically, MINOCA has been thought of as a benign condition, however, recent evidence suggests that some aetiologies of MINOCA such as cardiomyopathies are associated with significantly higher mortality than other causes such as myocarditis. Therefore, identifying the underlying cause of MINOCA is important in determining patient management and prognosis.Case summaryWe describe the case of a 58-year-old lady with an acute admission with MINOCA syndrome. Cardiac magnetic resonance (CMR) examination on Day 9 demonstrated hypertrophy of the apical segments of the left ventricle (LV), with diffuse mid-wall hyper-enhancement on late gadolinium enhancement (LGE) images. T2-weighted imaging was suggestive of active inflammation in the hypertrophied segments. A repeat CMR scan was performed 3 months later showed normalization of LV wall thickness, LGE and T2 values in the apical segments.DiscussionThis case report highlights the benefits of CMR with oedema-weighted imaging in the acute stages of MINOCA syndrome, as well as the importance of serial imaging in this patient cohort. While baseline imaging raised the possibility of apical hypertrophic cardiomyopathy, resolution of apical hypertrophy on follow-up CMR showed that the patient had acute myocarditis, specifically involving the apical segments.
| S-EPMC7891283 | biostudies-literature
Project description:BackgroundPeriprosthetic joint infections are mainly caused by Gram-positive cocci. Leuconostoc mesenteroides is a rare microorganism mainly causing bloodstream infections. At times, it might be confused with another type of cocci and give rise to misdiagnosed infections. Molecular diagnosis and biofilm production comprise important techniques to guide antibiotic treatment.Case presentationA 68-year-old Hispanic female with a previous history of bilateral knee arthroplasty presented with acute right-knee inflammation and gait impairment. Blood tests showed inflammatory response and knee x-ray revealed no prosthesis loosening. Irrigation and debridement was performed. Gram-positive cocci were obtained from cultures, and then biochemical and molecular identification revealed L. mesenteroides. Susceptibility and biofilm production were performed. The patient was treated with IntraVenous (IV) Ceftriaxone for ten days and was then switched to Amoxicillin-Clavulanate for 3 months with clinical and laboratory success.ConclusionsMicrobiology diagnosis of fastidious microorganisms is mandatory to treat periprosthetic joint infections adequately. L. mesenteroides may infect non-immunocompromised persons; however, treatment guidelines are lacking.
| S-EPMC5364644 | biostudies-literature