Alagille syndrome

Alagille syndrome (AS) is a rare multisystem autosomal dominant hereditary disease. It may be identified on the basis of a number of clinical signs: cholestasis, heart disease, skeletal abnormalities, typical facial appearance, and eyeball abnormalities. AS is accompanied by growth retardation and delayed physical development. Obvious hypoplasia of the intrahepatic bile ducts is noted; defects of the liver can cause its end-stage disease that needs transplantation. Most of fatal AS cases are due to cardiovascular diseases: injury of the pulmonary artery, its branches (more commonly stenosis) and valve; directly that of the heart (tetralogy of Fallot, ventricular and atrial septal defects, aortic stenosis and coarctation); cerebrovascular diseases (cerebral aneurysms, arteriopathy, dolichoectasia, moya-moya disease). Bone abnormalities are common in AS; these are butterfly vertebrae, vertebral fusion, hemivertebrae, intercostal joints, shortened fingers, a convex forehead, moderate hypertelorism with deep-set eyes, a saddle-shaped or straight nose with a flattened-convex tip and large ears. AS is also manifested by severe growth retardation, chronic exhaustion, and sometimes moderate mental retardation. Specific therapy for AS has not been developed. The paper describes clinical cases (an 11-year-old boy and his 5-year-old sister). The children complained of obvious itching, dry and tightened skin; AS was manifested by a complete set of the above clinical signs with delayed mental and physical development. Only a few years later, the specialists from regional and federal clinics of Russia diagnosed AS on the basis of a set of symptoms. The authors note that both patients have a number of clinical manifestations that may be signs of AS, such as talipes valgus; funnel-shaped deformation of the chest; ichthyosi form lesions of the axillary regions; watch-glass nails; thinning and brittle hair.

Alagille syndrome, review of literature, case report