Moyamoya disease: a case of vanishing cerebral vessels.

PURPOSE: To provide an overview of moyamoya disease (MMD) including pathophysiology, epidemiology, clinical presentation, diagnosis, treatment, and prognosis. DATA SOURCES: Selected clinical and epidemiological studies, review articles, and diagnostic guidelines for MMD. CONCLUSIONS: MMD is a rare cerebrovascular disease characterized by progressive stenosis of the distal internal carotid arteries and their major branches. The dilated and fragile basal collateral circulations display a "puff of smoke" appearance and thus are called moyamoya vessels. Other unique features of MMD include 2:1 female preponderance and its peak incidence in two age groups: early childhood and adults in their mid-40s. The pathophysiology of MMD is unclear and possible causes include genetic linkage, angiogenesis, autoimmune disease, cranial radiation, and infection of the head and neck. Most patients are symptomatic and may present with ischemic or hemorrhagic strokes, seizure, or headache. The diagnosis depends on clinical presentation and radiographic imaging, and disease progression may be halted with direct or indirect cerebral revascularization. IMPLICATIONS FOR PRACTICE: It is important to make a correct diagnosis and provide appropriate treatment to reduce the morbidity and mortality associated with MMD. A prompt referral for possible surgical revascularization offers the best chance to reduce additional cerebral injuries and improve clinical outcomes.

Distinctive clinical, radiographic, and functional characteristics of patients with sarcoidosis-related pulmonary hypertension.

STUDY OBJECTIVE: To differentiate the clinical, radiographic, and physiologic profile in patients with sarcoidosis with and without pulmonary hypertension. DESIGN: Retrospective survey. SETTING: Tertiary care center. PATIENTS: One hundred six patients with sarcoidosis were classified by two-dimensional echocardiography into two groups: group 1, 54 patients with pulmonary hypertension; group 2, 52 patients without pulmonary hypertension. INTERVENTIONS: Patients underwent two-dimensional and Doppler echocardiography, chest radiography (CXR), pulmonary function testing, and arterial oxygen saturation determination, and the test results were compared between the two groups. Statistical analysis was performed using independent-sample t test and chi2 test, as appropriate; p < 0.05 was considered to be significant. RESULTS: Predicted spirometric values and lung diffusing capacity were significantly lower in patients in group 1 compared to patients in group 2: FVC, 54% vs 64% (p = 0.0065), FEV(1), 47% vs 61% (p = 0.0005), forced expiratory flow, midexpiratory phase, 35% vs 52% (p = 0.0363), and single-breath diffusing capacity of the lung for carbon monoxide (D(LCO)sb), 39% vs 54% (p = 0.0001). Sixty percent of patients in group 1 had radiographic Scadding stage 4 sarcoidosis, while no radiographic stage predominated in group 2. Arterial oxygen saturation, need for oxygen supplementation, and degree of desaturation after exercise did not differ between groups. CONCLUSIONS: The presence of pulmonary hypertension in patients with sarcoidosis is associated with higher prevalence of stage 4 sarcoidosis by CXR and lower predicted spirometric and D(LCO)sb measurements.