BACKGROUND

Carney complex (CNC) is a rare multiple endocrine neoplasia syndrome caused by PRKAR1A gene mutation and  characterized by lentigines, myxomatous tumors and various endocrine neoplasms.

CASE PRESENTATION

This is a case of a 52-year-old male patient who underwent echocardiogram for intermittent palpitations and near-syncopal attack, which revealed a left atrial myxoma. The patient also exhibited multiple lentigines and had a history of histologicallyconfirmed papillary thyroid carcinoma. Surgical excision and subsequent histopathologic examination confirmed cardiac myxoma, fulfilling three major Stratakis criteria for CNC.

DISCUSSION

This case highlights the importance of a thorough history and physical examination with a strong understanding of the syndrome’s features being key to recognizing the disease. Increasing awareness and reinforcing knowledge of CNC are crucial for preventing misdiagnosis and ensuring effective management of this rare condition. To our knowledge, this is the first published case report of CNC in the Philippines, emphasizing the need for heightened regional awareness.

CONCLUSION

CNC may present with subtle or nonspecific symptoms and atypical tumor locations. Early recognition through a high index of suspicion, targeted imaging and a multidisciplinary approach is critical to optimize outcomes and guide family screening in this rare syndrome.

Human ; Male ; Middle Aged: 45-64 Yrs Old ; Multiple Endocrine Neoplasia ; Carney Complex ; Myxoma ; Syndrome ; Neoplasms ; Mutation ; Lentigo ; Genes

Introduction: Stroke can be a complication and/or a presenting sign of COVID-19 infection. Although there is growing evidence on stroke in COVID-19 infection, only a few of these studies were done in Asia and there is very scarce evidence in the local setting. Objective: This study aimed to characterize the clinical profile, management, and functional outcome of patients with acute stroke and COVID-19 infection. Methods: This was a single-center retrospective study from March 30 to October 20, 2020. The demographic characteristics, respiratory symptoms, risk factors, neuroimaging, stroke characteristics, ancillary test results, treatment given, and functional outcome were obtained through a review of medical records. Computation of the mean, standard deviation, median, interquartile range, total count, and percentage was done for data analysis. Results: Out of 2,018 patients with COVID-19 infection, 41 (2%) developed an acute stroke. The mean age of patients was 59.05 ± 14.04 years. Majority were men (n=24, 59%). Ischemic stroke (n=28, 68%) was the most common stroke with the anterior circulation commonly involved (n=21, 72%). The most common risk factors were hypertension (n=31, n=76%), cigarette smoking (n=18, 44%), dyslipidemia (n=16, 39%), and ethanol use (n=16, 39%). Among those with stroke and COVID-19 infection, 42% had mild infection and 29% had critical disease. The inflammatory markers were elevated in these patients. Upon discharge, 83% had a poor functional outcome (mRS 3–6). The overall mortality rate was high (n=24, 59%) with pulmonary cause as the most common cause of death. Conclusion Ischemic stroke was the most common stroke type in patients infected with COVID-19. The common risk factors were hypertension, dyslipidemia, smoking, ethanol use, and diabetes mellitus. The functional outcome was generally poor and the mortality rate was high. More studies are needed that compare these subsets of patients with a control group, including a longer follow up.
Cerebrovascular Disorders ; COVID-19 ; Stroke