Chapter 1: Syndromes and Eponyms

Syndromes and Diseases

Adult Respiratory Distress Syndrome

Adult respiratory distress syndrome (ARDS) is characterized by a delay in onset (12-24 hours) following injury, shock, and/or successful resuscitative effort. Septic shock, extrathoracic trauma, central nervous system (CNS) pathology, fat embolism, oxygen toxicity, head and facial injuries, and massive blood transfusions can lead to ARDS. It is characterized by hypoxia and pulmonary infiltrates secondary to increased pulmonary vascular permeability, microvascular hemorrhage, or both.

Aide Syndrome

Aide syndrome is characterized by decreased pupillary reaction and deep tendon reflex. The etiology is unknown.

Alagille Syndrome

Alagille syndrome is marked by cardiovascular abnormalities, characteristic facial appearance, chronic cholestasis, growth retardation, hypogonadism, mental retardation, vertebral arch defect, temporal bone anomalies in the cochlear aqueduct, ossicles, semicircular canals (SCCs), and subarcuate fossa. Liver transplantation is a possible treatment.

Albers-Schönberg Disease

A genetic disorder also known as osteopetrosis, Albers-Schönberg disease results in progressive increase in the density (but also increase in weakness) of the bones in the skeletal system. Vascular nutrition to affected bones is also decreased by this disease. Broken down into three categories, there is osteopetrosis with precocious manifestations, osteopetrosis with delayed manifestations, and pyknodysostosis. In the mandible long-term antibiotic therapy, multiple debridements, sequestrectomies, or even resection are possible treatments.

Albright Syndrome

Polyostotic fibrous dysplasia usually manifests early in life as multicentric lesions involving the long bones and bones of the face and skull with scattered skin lesions similar to melanotic café au lait spots and precocious puberty in female patients. Frequently, there is an elevation of serum alkaline phosphatase as well as endocrine abnormalities.

Aldrich Syndrome

Thrombocytopenia, eczema, and recurrent infections occur during the first year of life. It is inherited through a sex-linked recessive gene. The bleeding time is prolonged, the platelet count is decreased, and the bone marrow megakaryocytes are normal in number.

Amalric Syndrome

Granular macular pigment epitheliopathy (foveal dystrophy) is associated with sensorineural hearing loss. Visual acuity is usually normal. Amalric syndrome may be a genetic disorder, or it may be the result of an intrauterine rubella infection.

Aortic Arch Syndrome

See Takayasu Disease.

Apert Syndrome

Apert syndrome is not to be confused with Pfeiffer syndrome, which has different types of hand malformations.

Ascher Syndrome

Ascher syndrome is a combination of blepharochalasis, double lip, and goiter.

Auriculotemporal Syndrome (Frey Syndrome)

Auriculotemporal syndrome is characterized by localized flushing and sweating of the ear and cheek region in response to eating. It usually occurs after parotidectomy. It is assumed ...