ABSTRACT
A 3-year-old boy presenting with convulsions and carpopedal spasm had hypomagnesemia and hypermagnesuria due to congenital magnesium-losing nephropathy. Despite chronic oral and intermittent intravenous magnesium supplementation, he remained chronically hypomagnesemic. At age 4, he developed a progressive proximal myopathy and dilated hypertrophic cardiomyopathy that ultimately contributed to his death at age 14 years. Skeletal and cardiac muscle specimens showed a mitochondrial myopathy with increased numbers of enlarged, structurally abnormal mitochondria. Muscle magnesium content was markedly decreased. Chronic oral and intermittent intravenous magnesium supplementation may be inadequate to prevent the progressive cardioskeletal myopathy associated with the chronic magnesium deficiency of congenital magnesium-losing nephropathy.
Subject(s)
Cardiomyopathies/etiology , Magnesium Deficiency/complications , Mitochondria, Heart/ultrastructure , Mitochondria, Muscle/ultrastructure , Muscular Diseases/etiology , Biopsy , Cardiomyopathies/pathology , Child, Preschool , Chronic Disease , Humans , Magnesium Deficiency/pathology , Male , Microscopy, Electron , Muscular Diseases/pathologyABSTRACT
Epstein-Barr virus (EBV) infection in a family resulted in a fatal disseminated heterophil negative infectious mononucleosis syndrome in a nine-year-old girl. This was followed closely by a similar disease process in her six-year-old brother which evolved over a one-year period into Stage IIIB Hodgkin's disease. Finally, three years after the index EBV case in the daughter, the mother was diagnosed with a non-Burkitt's-type undifferentiated lymphoma that proved rapidly fatal. The EBV involvement in the sister and brother was well documented serologically and virologically. The pathologic diagnosis was established and confirmed by more than one pathologist. There was no obvious evidence for either a specific or general immune defect in any of the family members tested. The progression of the six-year-old boy's EBV infection from a benign, yet disseminated disease process into a histopathologically confirmed case of Hodgkin's disease offers a strong suggestion that this virus was not behaving solely as a passenger. Especially relevant is the fact that the boy never fully recovered from his EBV infection and essentially became persistently infected with the virus as evidenced by his EBV-EA serology and virology results.
Subject(s)
Hodgkin Disease/genetics , Infectious Mononucleosis/genetics , Lymphoma/genetics , Adult , Antibodies, Viral/analysis , Child , Female , Herpesvirus 4, Human , Hodgkin Disease/immunology , Humans , Immunoglobulins/analysis , Infectious Mononucleosis/immunology , Liver/pathology , Lymph Nodes/pathology , Lymphocytes/immunology , Lymphoma/immunology , Male , Rosette FormationABSTRACT
This is a case report of a patient treated at West Virginia University Medical Center that illustrates the successful use of preoperative percutaneous angiographic embolization of a pheochromocytoma in controlling a malignant hypertensive crisis.
Subject(s)
Adrenal Gland Neoplasms/surgery , Adrenal Glands/blood supply , Embolization, Therapeutic , Pheochromocytoma/surgery , Preoperative Care , Adolescent , Adrenal Gland Neoplasms/blood supply , Adrenal Gland Neoplasms/physiopathology , Blood Pressure , Catheterization , Gelatin Sponge, Absorbable/therapeutic use , Humans , Hypertension, Malignant/physiopathology , Hypertension, Malignant/therapy , Male , Pheochromocytoma/blood supply , Pheochromocytoma/physiopathologyABSTRACT
A patient had recurrent pyogenic infections, chronic mucocutaneous candidiasis, and repeated long-bone fractures. Her disorder was diagnosed as hyper-IgE syndrome on the basis of clinical data, elevated levels of serum IgE, increased levels of IgE specific for Staphylococcus aureus, and impaired T-lymphocyte function. Roentgenograms confirmed the diagnosis of osteogenesis imperfecta tarda. The estimated likelihood of both conditions occurring in the same person is approximately one in 10 billion. The coincident finding of bone dysplasia in a patient with impaired T-lymphocyte function suggests a common mechanism for birth defects.
