Rowley-Rosenberg syndrome
Overview
A rare disorder characterized by very short stature, cor-pulmonale (failure of the right side of the heart) and excess amino acids in the urine due to kidney dysfunction.
Symptoms
* Postnatal growth retardation * Slow motor development * Waddling gait * Frequent respiratory infections * Normal mental development * Reduced muscle tissue * Reduced adipose tissue * Enlarged right ventricle * Enlarged heart * High level of amino acids in the urine * Cor pulmonale * Dwarfism
Causes
Approximately 85% of patients with cor pulmonale have COPD, and 25% of patients with COPD eventually develop cor pulmonale. Other respiratory disorders that produce cor pulmonale include: obstructive lung diseases — for example, bronchiectasis and cystic fibrosis restrictive lung diseases — for example, pneumoconiosis, interstitial pneumonitis, scleroderma, and sarcoidosis
Prognosis
The 'prognosis' of Rowley-Rosenberg syndrome usually refers to the likely outcome of Rowley-Rosenberg syndrome. The prognosis of Rowley-Rosenberg syndrome may include the duration of Rowley-Rosenberg syndrome, chances of complications of Rowley-Rosenberg syndrome, probable outcomes, prospects for recovery, recovery period for Rowley-Rosenberg syndrome, survival rates, death rates, and other outcome possibilities in the overall prognosis of Rowley-Rosenberg syndrome. Naturally, such forecast issues are by their nature unpredictable.
Treatment
Treatment of cor pulmonale is designed to reduce hypoxemia, increase the patient’s exercise tolerance and, when possible, correct the underlying condition. In addition to bed rest, treatment may include administration of: a cardiac glycoside (digoxin) antibiotics when respiratory infection is present; culture and sensitivity of a sputum specimen helps select an antibiotic potent pulmonary artery vasodilators (such as diazoxide, nitroprusside, hydralazine, angiotensin-converting enzyme inhibitors, calcium channel blockers, or prostaglandins) in primary pulmonary hypertension oxygen by mask or cannula in concentrations ranging from 24% to 40%, depending on PaO2, as necessary; in acute cases, therapy may also include mechanical ventilation; patients with underlying COPD generally shouldn’t receive high concentrations of oxygen because of possible subsequent respiratory depression a low-salt diet, restricted fluid intake, and diuretics, such as furosemide, to reduce edema phlebotomy to reduce the RBC count anticoagulants to reduce the risk of thromboembolism. Depending on the underlying cause, some variations in treatment may be indicated. For example, a tracheotomy may be necessary if the patient has an upper airway obstruction. Steroids may be used in the patient with a vasculitis autoimmune phenomenon or acute exacerbations of COPD.