Restless legs syndrome (RLS), a neurological sensorimotor disease often profoundly disturbing sleep and quality of life has variable expression influenced by genetic, environmental and medical factors. The symptoms vary considerably in frequency from less than once a month or year to daily and severity from mildly annoying to disabling. Symptoms may also remit for various periods of time. Continue reading
Brugada syndrome (BrS) is a rare inherited arrhythmia syndrome leading to an increased risk of sudden cardiac death, despite a structurally normal heart. Diagnosis is based on a specific electrocardiogram pattern, observed either spontaneously or during a sodium channel blocker test. Continue reading
The majority (50 to 80%) of Zika virus (ZIKV) infections are asymptomatic. Symptomatic ZIKV infection has an incubation period of 3 to 14 days and is a mild illness, with a duration of up to 1 week, that manifests as a rash, low-grade fever, arthralgia and myalgia, and conjunctivitis. Complications are infrequent, but when they occur, they are severe and may be fatal. Continue reading
Hepatic sinusoidal obstruction syndrome/veno-occlusive disease (SOS/VOD) is a life-threatening complication of hematopoietic cell transplantation (HCT) that belongs to a group of diseases increasingly identified as transplant-related, systemic endothelial diseases. In most cases, SOS/VOD resolves within weeks; however, severe SOS/VOD results in multi-organ dysfunction/failure with a mortality rate >80%. Continue reading
The pseudotumor cerebri syndrome (PTCS) may be primary (idiopathic intracranial hypertension) or arise from an identifiable secondary cause. Characterization of typical neuroimaging abnormalities, clarification of normal opening pressure in children, and features distinguishing the syndrome of intracranial hypertension without papilledema from intracranial hypertension with papilledema have furthered our understanding of this disorder.
Antiphospholipid antibody syndrome (APS) is an autoimmune disorder characterized by vascular thrombosis, complications during pregnancy, and the presence of antiphospholipid antibodies (APL) in plasma. Continue reading
The Lynch syndrome is the most common inherited syndrome associated with colorectal cancer, accounting for 3% of new diagnoses; it is also associated with extracolonic cancers, the most common of which is endometrial cancer.
The Lynch syndrome phenotype includes a propensity for cancers of the proximal colon, poor tumor differentiation with mucinous or signet-ring cell histologic features or a medullary growth pattern, abundant infiltrating lymphocytes in the tumor, and synchronous and metachronous colorectal cancers. Continue reading
The Catastrophic Antiphospholipid Syndrome (CAPS) is a rare life-threatening form of Antiphospholipid Syndrome (APS) in which widespread intravascular thrombosis results in multiorgan ischemia and failure. CAPS is the initial presentation of APS in nearly half of patients, while the remaining half has a history of APS. Continue reading
POEMS syndrome is a rare paraneoplastic syndrome due to an underlying plasma cell disorder (PCD). The acronym, which was coined by Bardwick in 1980, refers to several, but not all, of the features of the syndrome: polyradiculoneuropathy, organomegaly, endocrinopathy, monoclonal PCD, and skin changes. Continue reading
A diagnosis of primary Sjögren’s syndrome is often made on the basis of a classic triad of symptoms: dryness of the mouth and eyes, fatigue, and pain. Systemic complications, which are present in 30 to 40% of patients, may provide the first clues to the disease.