Patient: Male, 23Final Diagnosis: Corynebacterium diphtheriae endocarditisSymptoms: Abdominal pain • cachexia • diarrhea • fever • vomitingMedication: —Clinical Procedure: Mitral valve replacementSpecialty: SurgeryObjective:Rare diseaseBackground:Although Corynebacterium diphtheriae is well known for causing diphtheria and other respiratory tract infections, in very rare cases it can lead to severe systemic disease.Case Report:This is a case of a previously healthy young man (no prosthetic valve in situ or other known congenital defect), presenting with a Corynebacterium diphtheriae infection leading to endocarditis. The patient reported no I.V. drug use, so it can be assumed that no risk factors for infective endocarditis were present.Conclusions:This report aims to raise suspicion for this specific infection in order to proceed with the right treatment as soon as possible.
Patient: Male, 32Final Diagnosis: Ocular tuberculosis (tuberculous posterior sclero-uveitis with features of Vogt-Koyanagi-Harada uveitis)Symptoms: Pain and progressive visual impairment of his left eyeMedication: Systemic anti-tuberculosis treatment (6-month course)Clinical Procedure: Thorough ophthalmological and systemic explorationSpecialty: OphthalmologyObjective:Rare diseaseBackground:Ocular tuberculosis (TB) is a clinical entity that presents with a wide range of clinical manifestations. It is regarded as an extremely challenging condition from the point of view of diagnostic approach and calls for early diagnosis and prompt treatment, as it can potentially lead to blindness.Case Report:This is a case report of a 32-year-old male from southern India who has been living and working in Greece over the last 10 years and presented with 2-week history of pain and progressive visual impairment of his left eye. He underwent a thorough clinical ophthalmological examination and imaging of the fundus, and the findings were consistent with uveitis. However, the manifestations of the inflammation were complicated as they included features that could be attributed mainly to Vogt-Koyanagi-Harada (VKH) disease and tuberculous serpiginous-like uveitis. Therefore, a systemic evaluation, together with specific laboratory and paraclinical investigations, were carried out to define the etiology of the inflammation and develop an optimal therapeutic plan. Taking into account specific findings from the chest imaging, a positive purified protein derivative (PPD) skin test, and sputum cultures positive for Mycobacterium tuberculosis (MTB), we set a diagnosis of posterior sclero-uveitis and started our patient on anti-tuberculous treatment.Conclusions:This case reveals an atypical manifestation of tuberculous sclero-uveitis imitating Vogt-Koyanagi-Harada disease together with a few characteristics of serpiginous-like tuberculous uveitis, emphasizing the fact that tuberculosis should always be included in the differential diagnosis of uveitis when there is no obvious underlying disease.
Choriocarcinoma is a disease associated with uncontrollable proliferation and malignant change of cells of the placenta and belongs to the malignant end of the spectrum in gestational trophoblastic disease. These tumours are usually developed after molar pregnancies, and their incidence after full-term pregnancies is extremely rare.We present a very rare case of a 30-year-old lady, admitted with a five-month history of vaginal bleeding after a normal pregnancy. The human chorionic gonadotropin (hCG) was at a level of 209,566. A pelvic ultrasound scan revealed an endometrial thickness of 6 cm and the presence of an intra-uterine mass measuring 56 × 50 × 45 mm. After discussion with the regional gestational trophoblastic disease centre, we proceeded to a surgical evacuation of the uterus, which confirmed a post-partum choriocarcinoma (International Federation of Gynaecology and Obstetrics (FIGO) score 9). Care was continued in the specialised centre with multi-agent chemotherapy. The response was excellent, and the patient was subsequently discharged after 10 cycles of chemotherapy, and a 10-year follow-up was arranged.Choriocarcinomas after full-term pregnancies are a rare entity. Even when they happen, they are usually associated with pregnancy complications in the ante-natal period. The prognosis is usually very good, provided that prompt diagnosis and referral to a specialised centre are made. Low-risk patients are usually treated with methotrexate monotherapy, whereas high-risk women would normally require multi-agent chemotherapy.The diagnosis of choriocarcinoma might be proven challenging even for experienced clinicians. Women should be informed that the prognosis is usually excellent, provided that they receive the right treatment.
Two cases of fetal hand abnormalities are presented in this report. The first one is a case of unilateral fetal syndactyly detected in the first trimester routine scan, resulting in the early diagnosis of a severe genetic condition by invasive testing and early termination of pregnancy. By doing so, we ensured that the woman was managed in the most appropriate way. In the second case, we describe a fetus with bilateral hand polydactyly, which was combined with a cardiac defect -incompatible with extrauterine life. This was once again diagnosed during the first trimester scan. An uncomplicated termination of pregnancy was achieved in the first trimester of pregnancy.
In this report, we describe a rare case of prenatal diagnosis of Williams-Beuren syndrome (WBS). While the prenatal diagnosis of WBS is very rare, in the current case, WBS was diagnosed in early pregnancy. The key element was the detection of fetal hands hypotonia and generalized fetal hypotonia at 17 weeks of gestation. This led to the diagnosis of WBS by molecular karyotyping, specifically array comparative genomic hybridization (arrayCGH) of the fetal DNA. The genetic material was acquired by extraction from the fetal cells which are abundant in the amniotic fluid drawn by amniocentesis. Clinical hypotonia of the affected individuals is a clinical characteristic that is widely associated with WBS; however, fetal hypotonia has not been described as a diagnostic criterion for the prenatal diagnosis of WBS.
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