An Unusual Antenatal Presentation of a Mature Pericardial Teratoma Masquerading as Congenital Pulmonary Airway Malformation
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ABSTRACT:
SUBMITTER: Krishnan V
PROVIDER: S-EPMC10668913 | biostudies-literature | 2022 Jul
REPOSITORIES: biostudies-literature
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Project description:A male infant at 36 weeks gestation was born by section. At 20 weeks of gestation, congenital diaphragmatic hernia and sacrococcygeal teratoma had been seen on ultrasound. At birth, the infant had features suggestive of Cornelia de Lange syndrome (CdLS). He remained hypoxic despite aggressive ventilatory manoeuvres and was palliated. At postmortem, the lungs were hypoplastic. In CdLS, mutations in NIPBL are found in around 50% of cases. Mutation analysis, including multiplex ligation dependent probe amplification of the NIPBL gene from the DNA extracted from peripheral blood lymphocytes was negative, but microarray comparative genomic hybridisation on DNA from skin fibroblast showed a 0.13Mb deletion on chromosome 5p13. The deleted region includes exons 42-47 of the NIPBL gene. It is important to perform NIBPL mutation analysis on DNA from more than one tissue when testing for CdLS.
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Project description:Intrapulmonary teratoma (IPT) is a rare mediastinal teratoma. IPT arise because of abnormal migration of pluripotent stem cells along the developing lung bud. Patients present with chest pain, hemoptysis, and trichoptysis. These tumors have the potential to rupture into adjacent pleura, pericardium, or tracheobronchial tree. The differential diagnosis includes hydatid cyst, fungal ball, lung abscess, and lung parenchymal tumor. We report a case of IPT, which was initially diagnosed as hydatid cyst of the lung due to positive hydatid serology and correlating radiological features. The role of cross-reaction of hydatid antigens with sera of cancer patients needs to be evaluated. Surgical resection of the tumor is advised to avoid complications.
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Project description:Mature ovarian teratoma is considered to be a parthenogenetic tumor that arises from a single oocyte/ovum. Conversely, complete hydatidiform mole (CHM) is androgenetic in origin: classic CHM arises from a single or two sperm. Since mature ovarian teratoma and CHM have only maternal and paternal genomes, respectively, their genome imprinting is theoretically reverse, but this has yet to be investigated. Genome imprinting in struma ovarii, a special form of mature teratoma, remains unclear. Although a mature teratoma can rarely arise in extragonadal sites, its genome imprinting, as well as cell origin, is poorly understood. One of the most important mechanisms of genome imprinting is DNA methylation. To investigate the methylation profile of imprinted genes, we performed methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) of 21 imprinting control region (ICRs) of 9 imprinted genes/gene clusters in formalin-fixed, paraffin-embedded samples obtained from 12 mature ovarian teratomas, 6 struma ovarii, 10 CHMs, and 7 extragonadal (1 sacrococcygeal, 6 mediastinal) mature teratomas of females. In mature ovarian teratomas, ICRs of maternally and paternally imprinted genes showed high and low levels of methylation, respectively, and this pattern was almost reverse in CHMs. In CHMs, however, some ICRs showed aberrant methylation. The methylation profile of struma ovarii was comparable to that of mature ovarian teratomas, except for an adenomatous tumor. In extragonadal mature teratomas, the methylation pattern was somatic or irregular. In conclusion, mature ovarian teratomas/struma ovarii, CHMs, and extragonadal mature teratomas showed distinct methylation profiles of imprinted genes. Ovarian teratomas and CHMs are most likely to inherit their methylation profiles from their ancestral germ cells, although some aberrant methylation suggests a relaxation of imprinting in CHMs and a subset of struma ovarii. Extragonadal mature teratomas may carry a methylation profile of misplaced primordial germ cells or possibly somatic cells that have been reprogrammed in vivo.
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Project description:A 53-year-old man with steroid dependent rheumatoid arthritis presented with fever and serous articular drainage. Oral antibiotics were initially prescribed. Subsequent hemodynamic instability was attributed to septic shock. Further evaluation revealed a pericardial effusion with tamponade. Pericardiocentesis of purulent fluid promptly corrected the hypotension. Proteus mirabilis was later isolated from both the infected joint and the pericardial fluid. This is the first report of combined Proteus mirabilis septic arthritis and purulent pericarditis. It documents the potential for atypical transmission of Gram-negative pathogens, to the pericardium, in patients with a high likelihood of preexisting pericardial disease. In immunocompromised patients, the typical signs and symptoms of pericarditis may be absent, and the clinical presentation of pericardial tamponade may be misinterpreted as one of septic shock. This case underscores the value of a careful physical examination and proper interpretation of ancillary studies. It further illustrates the importance of initial antibiotic selection and the need for definitive treatment of septic arthritis in immunocompromised patients.
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Project description:BackgroundWhipple's disease is a clinically relevant multi-system disorder that is often undiagnosed given its elusive nature. We present an atypical case of Whipple's disease involving pan-valvular endocarditis and constrictive pericarditis, requiring cardiac intervention. A literature review was also performed assessing the prevalence of atypical cases of Whipple's disease.Case presentationA previously healthy 56-year-old male presented with a four-year history of congestive heart failure with weight loss and fatigue. Notably, he had absent gastrointestinal symptoms. He went on to develop pan-valvular endocarditis and constrictive pericarditis requiring urgent cardiac surgery. A clinical diagnosis of Whipple's disease was suspected, prompting duodenal biopsy sampling which was unremarkable, Subsequently, Tropheryma whipplei was identified by 16S rDNA PCR on the cardiac valvular tissue. He underwent prolonged antibiotic therapy with recovery of symptoms.ConclusionsOur study reports the first known case of Whipple's disease involving pan-valvular endocarditis and constrictive pericarditis. A literature review also highlights this presentation of atypical Whipple's with limited gastrointestinal manifestations. Duodenal involvement was limited and the gold standard of biopsy was not contributory. We also highlight the Canadian epidemiology of the disease from 2012 to 2016 with an approximate 4% prevalence rate amongst submitted samples. Routine investigations for Whipple's disease, including duodenal biopsy, in this case may have missed the diagnosis. A high degree of suspicion was critical for diagnosis of unusual manifestations of Whipple's disease.
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Project description:A very large fetal pericardial teratoma was diagnosed at 28 weeks' gestation, prompting urgent multidisciplinary expert consultations to weigh the risks and benefits of various prenatal invasive procedures and preterm delivery for postnatal surgical management. Ultimately, the infant was born by planned cesarean section and underwent immediate cardiopulmonary bypass and surgical resection.
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