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.
| S-EPMC7820788 | biostudies-literature
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| S-EPMC2657633 | biostudies-literature
Project description:DNA ligase I deficiency is an extremely rare primary immunodeficiency with only 6 patients reported in the literature. Most common manifestations include radiosensitivity, macrocytic anemia, lymphopenia with an increased percentage of gamma-delta T cells, and hypogammaglobulinemia requiring replacement therapy. Two-month-old girl with delayed development, T-B-NK+ SCID, and macrocytic anemia presented features of Omenn syndrome. Whole exome sequencing revealed two novel, heterozygous variants (c.2312 G>A, p.Arg771Gly and c.776+5G>T, p.Pro260*) in the LIG1 gene (NM_000234.1). Hematopoietic stem cell transplantation from a fully matched unrelated donor was performed at the age of 4 months using GEFA03 protocol. Mixed donor-recipient chimerism was observed, with 60-70% chimerism in the mononucleated cell compartment and over 90% in T-lymphocyte compartment, but autologous myeloid recovery. Stable CD4+ and CD8+ T-cell counts above 200/µL were achieved after 2 months, but the patient remained transfusion-dependent. Despite satisfactory immunological reconstitution, the second transplantation due to constitutional hemolytic defect has been considered. In light of possible re-transplantation, an issue of optimal conditioning protocol with sufficient myeloid engraftment is important. For the first time Omenn syndrome is described in a compound heterozygote carrying two the novel variants p.Arg771Gly and p.Pro260* in the LIG1 gene. Patients diagnosed with SCID and Omenn syndrome showing macrocytic anemia, should be screened for DNA ligase I deficiency.
| S-EPMC9626757 | biostudies-literature
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.
| S-EPMC7501922 | biostudies-literature
Project description:There have been several reports across the globe regarding the presentation of a severe multi-system hyperinflammatory syndrome, resembling Kawasaki disease (KD), in the pediatric population during the SARS-CoV-2 pandemic. The exact pathophysiology is still unclear; however, children typically demonstrate multi-organ dysfunction and less respiratory system involvement compared to adults. The limited literature is available at present for the identification and management of such patients. In this study, we investigated four cases in children ages 11-15 years that fulfilled the case definition for the pediatric multi-system inflammatory syndrome. All were found negative for SARS-CoV-2 from oropharyngeal swabs and stool. As they were having symptoms of diarrhea, tests for bacterial and enteric viral infections were performed after SARS-CoV-2 testing. Molecular analysis revealed that all the children were infected with enterovirus (Echovirus-18). Early and exact diagnosis is vital for timely, effective, and potentially life-saving management of such cases.
| S-EPMC9355657 | biostudies-literature
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:IntroductionThe incidence of colonic complications from acute pancreatitis (AP) and severe AP are 3.3% and 15%, respectively. We report a case of descending colon fistula secondary to severe AP and its management.Case presentationWe report a case of a 35-year-old male hospitalized in our department for severe acute pancreatitis (grade E of Balthazar classification).Initially, the evolution was favorable under medical management. Two months later, he was readmitted for infection of the necrosis with a descending colon fistula. As we did not have the possibility of performing a CT scan drainage, our plan was to do surgical drainage under general anesthesia.ConclusionThe colonic involvement following AP or severe AP is rare and difficult to diagnoses. Conservative treatment when some conditions are available should be the best choice; it is associated with lower risk of morbidity and mortality.
| S-EPMC8977942 | 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:BackgroundGranulomatosis 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 presentationA 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.ConclusionGPA 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.
| S-EPMC6240177 | biostudies-literature
Project description:IntroductionSyphilis exhibits a wide range of clinical presentations, mimicking various systemic and ocular diseases. Ocular syphilis, in particular, manifests with multiple presentations, ranging from anterior uveitis to panuveitis, making it a potential differential diagnosis for Behçet's uveitis. Here, we present a unique case of Behçet's panuveitis that was undergoing immunomodulatory therapy and was complicated by ocular syphilis. Notably, this case also featured rare cutaneous manifestations associated with secondary syphilis, commonly known as malignant syphilis.Case presentationA 38-year-old Thai man with refractory end-stage Behçet's panuveitis reported a maculopapular rash accompanied by increased intraocular inflammation. The escalation of immunomodulatory therapy, intended to manage the provisional diagnosis of active ocular and cutaneous Behçet's disease, resulted in clinical deterioration, with the rash transforming into multiple noduloulcerative lesions. Despite negative serologic tests for syphilis at baseline before initiating immunomodulatory therapy, syphilis infection was eventually diagnosed following reevaluation and the observation of spirochetes in a skin biopsy specimen. The patient was treated with intravenous penicillin G, resulting in an improvement in intraocular inflammation and resolution of noduloulcerative rashes.ConclusionIntraocular inflammation and mucocutaneous lesions in syphilis can mimic the presentation of Behçet's disease. The introduction of immunomodulatory therapy may alter the clinical picture, leading to a severe and atypical presentation. A high index of suspicion for reevaluating serologic tests or performing tissue biopsies is warranted for an accurate diagnosis.
| S-EPMC11249751 | biostudies-literature