Pearson marrow-pancreas syndrome is a rare multisystem mitochondrial disease that is a result of defective oxidative phosphorylation caused by mitochondrial DNA mutations. The average prognosis of infants diagnosed with this disease is death within four years of age. The disease often carries an atypical presentation during the neonatal period causing this rare syndrome to be frequently misdiagnosed. The current report details the diagnosis of Pearson syndrome in a three-month-old male with a history of pancytopenia.
Aggressive natural killer cell leukemia (ANKL) is a rare neoplastic malignancy, especially in pediatric populations with very few cases reported in the literature. It commonly presents with a rapidly declining clinical course and has a median survival of two months. We report the case of a 15-year-old female who presented with fever, hepatosplenomegaly, hemophagocytosis, and disseminated intravascular coagulation (DIC). The patient was ultimately diagnosed with ANKL but died after developing multiorgan failure and DIC prior to the initiation of any treatment. In this case report, we review and discuss the literature concerning the diagnosis and treatment of ANKL in pediatric patients.
Despite the role of prostate-specific antigen (PSA) screening and the multitude of therapies available, prostate cancer (PCa) remains a leading cause of cancer-related morbidity and mortality. For many patients diagnosed with PCa, clinical and radiographic staging are critical components for management decisions. PCa staging with the use of imaging modalities such as MRI and bone scintigraphy is recommended in patients with newly diagnosed intermediate or high-risk PCa and in patients with biochemical recurrence; it is also recommended for monitoring the patient’s response to treatment for diagnosed PCa.
Prostate-specific membrane antigen (PSMA) positron emission tomography/computed tomography (PET/CT), recently approved in 2021, is an imaging modality that has been shown to have a greater sensitivity, specificity, and negative likelihood ratio than conventional imaging modalities such as CT, bone scintigraphy, and MRI in prostate cancer staging. Despite the improvement in staging that PSMA-PET/CT can provide, our current report details a false-negative result in detecting a rare PCa metastasis to the peritoneum, which was found at the time of an attempted radical prostatectomy. Although the patient had a negative preoperative PSMA-PET/CT and was presumed to be non-metastatic, the prostatectomy was aborted because the patient was unexpectedly found to have peritoneal metastasis.
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