ABSTRACT
Inherited metabolic diseases (IMDs) stem from genetic defects affecting enzyme function within specific metabolic pathways, collectively constituting rare conditions with an incidence of less than 1/100,000 births. While IMDs typically manifest with multisystemic symptoms, cardiac manifestations are common, notably hypertrophic cardiomyopathy. Additionally, they can lead to dilated or restrictive cardiomyopathy, as well as noncompacted left ventricular cardiomyopathy. Rhythm disturbances such as atrioventricular conduction abnormalities, Wolff-Parkinson-White syndrome, and ventricular arrhythmias, along with valvular pathologies and ischemic coronary issues, are also prevalent. This study aims to provide a narrative review of IMDs associated with cardiac involvement, delineating the specific cardiac manifestations of each disorder alongside systemic symptoms pivotal for diagnosis.
ABSTRACT
Actinomycosis is caused by the Gram positive filamentous Actinomyces bacterial species that are normal commensals of the oral cavity. Due to their low virulence, disease is rare in the immune competent patient. Although it may afflict any system in the body, involvement of the musculoskeletal system is uncommon. Here in, we describe the case of a 60 year old lady presenting with low grade fever, left hip pain and drowsiness. She was diagnosed as left hip actinomycosis on Computed tomogram (CT) guided biopsy and histopathological analysis of infiltrative lesions identified on Magnetic Resonance Imaging (MRI). She also had meningitis diagnosed on cerebrospinal fluid analysis which improved with treatment of actinomycosis. Actinomycosis of the hip is rare, and occurs in the presence of described predisposing factors. To the best of our knowledge, this is the first case of sporadic actinomycosis of the hip complicated by meningitis in an immune competent individual.
