ABSTRACT
Fat embolism syndrome is a rare complication occurring in 0.5 to 2% of patients following a long bone fracture. It is believed to be caused by the toxic effects of free fatty acids. Diagnosis is clinical, based on respiratory, cerebral and dermal manifestations. Treatment is only supportive, directed mainly at maintaining respiratory functions.
Subject(s)
Embolism, Fat/diagnosis , Fractures, Bone/complications , HumansABSTRACT
A 16 years boy who presented with pain chest, precordial bulging with abnormal chest movement and fever was diagnosed to have pseudo-aneurysm of left ventricle with infective endocarditis.
Subject(s)
Adolescent , Aneurysm, False/diagnosis , Endocarditis, Bacterial/complications , Heart Ventricles/pathology , Humans , Male , Risk Factors , Tuberculosis/complicationsABSTRACT
Hypoxanthine-guanine phosphoribosyl transferase (HPRT) deficiency is an X-linked defect of purine metabolism. Clinical manifestations are usually related to the degree of enzyme deficiency; complete HPRT deficiency (Lesh-Nyhan Syndrome) presenting with severe neurological or renal symptoms, or partial HPRT deficiency (Kelley-Seegmiller syndrome) manifesting as a gout-urolithiasis syndrome. We report a case of partial HPRT deficiency presenting as chronic tophaceous gout, mental retardation, nephrolithiasis and family history suggestive of X-linked inheritance, for its rarity.
Subject(s)
Adult , Arthritis, Gouty/diagnosis , Binding Sites , Erythrocytes/enzymology , Humans , Hyperuricemia/enzymology , Hypoxanthine Phosphoribosyltransferase/deficiency , Lymphocytes/enzymology , Male , Metabolism, Inborn Errors/diagnosis , Mutation , Purines/metabolism , SyndromeABSTRACT
Vasculitides are clinical syndromes characterized by vessel wall inflammation and resultant organ damage. Pathogenesis involves autoimmune reactions from type I to type IV. Vasculitis may be primary or secondary to infective and connective tissue disorders. The extent of damage may involve multiple organ systems or may remain limited to skin only. As the vasculitic syndromes display a multitude of variable presentations, there can be no uniform laid out guidelines or evaluation scale for the diagnosis of these conditions. High degree of suspicion, a detailed history regarding onset of disease and course of illness, meticulous physical examination, and appropriate laboratory tests to determine organ systems involved and the extent of involvement, lead to the diagnosis of specific syndrome. Anti-neutrophil cytoplasmic antibodies (ANCA), urinalysis, organ-specific biopsy and arteriography are the main diagnostic modalities for the diagnosis of vasculitis.