ABSTRACT
Sickle-cell disease is an autosomal recessive genetic disorder of hemoglobin that causes systemic damage. Hypoxia is the main actor of sickle-cell disease. It initiates acutely the pathogenic cascade leading to tissue damages that in turn induce chronic hypoxia. Lung lesions represent the major risk of morbidity and mortality. Management of sickle-cell disease requires a tight collaboration between hematologists, intensivists and chest physicians. Recurrent episodes of thrombosis and hemolysis characterize the disease. New therapeutic protocols, associating hydroxyurea, transfusion program and stem cell transplantation in severe cases allow a prolonged survival until the fifth decade. However, recurrent pain, crisis, frequent hospital admissions due to infection, anemia or acute chest syndrome and chronic complications leading to organ deficiencies degrade the patients' quality of life. In low-income countries where the majority of sickle-cell patients are living, the disease is still associated with a high mortality in childhood. This paper focuses on acute chest syndrome and chronic lung manifestations.
Subject(s)
Acute Chest Syndrome , Anemia, Sickle Cell , Lung Diseases , Humans , Acute Chest Syndrome/complications , Acute Chest Syndrome/therapy , Quality of Life , Anemia, Sickle Cell/complications , Anemia, Sickle Cell/therapy , Blood Transfusion/methods , Lung Diseases/complications , LungABSTRACT
Cushing syndrome (CS) is a rare feature of McCune-Albright syndrome. Treatments consist of bilateral adrenalectomy followed by lifelong glucocorticoid and mineralocorticoid treatment. However, cases of spontaneous remission of CS have been reported in the literature. We report a case of McCune-Albright syndrome with CS treated with metyrapone for 30 months with prolonged remission after a 12-year follow-up. Adrenalectomy may be avoided in some cases of CS caused by McCune-Albright syndrome. Metyrapone could be a good alternative to surgical treatment.
Subject(s)
Cushing Syndrome/drug therapy , Enzyme Inhibitors/therapeutic use , Fibrous Dysplasia, Polyostotic/complications , Metyrapone/therapeutic use , Child , Cushing Syndrome/etiology , Female , Follow-Up Studies , Humans , Remission InductionABSTRACT
UNLABELLED: Cushing's syndrome reveals McCune-Albright syndrome in a minority of patients. Bilateral adrenalectomy is performed on the majority of cases. CASE REPORT: We present a case of McCune-Albright syndrome revealed by a Cushing's syndrome treated by metyrapone. Results were good, after a 4-year follow up. CONCLUSION: Treatment with metyrapone could be recommended, for some patients, in McCune-Albright syndrome with Cushing's syndrome before chirurgical treatment.
