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Pfaundlera — Gurler an illness

Pfaundlera — Gurler an illness (Pfaundler M., 1872 — 1947, the German pediatrician; Hurler G., German pediatrician; synonyms: a multiple dysostosis, a gargoilizm) — a kind of the hereditary diseases which are characterized by accumulation of mucopolysaccharides in derivatives of a mesenchyma and in the central nervous system; low growth (the growth inhibition begins already by the end of the first year of life). This disease belongs to severe forms of systemic lesions of a skeleton, is shown at the age of 2 — 3.
The characteristic phenotype is observed: a big skull, the involved nose root, full lips, big language, a typical look ("the person spitting out water"), a short neck. Diffusion opacification of a cornea. The ginekotropizm is expressed. Skeletal anomalies: limited mobility of joints (generally fingers and elbow), the fixed kyphosis on m ch-te-transition from chest to lumbar vertebrae. The increased stomach with a big liver and a spleen; tendency to umbilical hernias. Sometimes weak-mindedness, relative deafness or deafness, deep hoarse voice. Anomalies of granulation of leukocytes. It is possible to reveal a hypertrichosis; nails in the form of hour glasses, caries of teeth. In urine — pathological mucopolysaccharides (hondroitinsulfat In and geparitinsulfat).
Distinguish two types of Pfaundler — Gurler of an illness: I \a gargonlizm, autosomal and recessive inheritance with the adverse forecast and life expectancy till 12 flyings; II \Gunter, the dominant and linked to X-chromosome inheritance, but more favorable and long current.
Entimny defect consists in deficit of a lysosomic V-galactosidase in various bodies. The disease is also accompanied also by other anomalies of development: the shortened fingers, wide brushes, the deformed thorax, dwarfism, cardiovascular and respiratory frustration.
On the roentgenogram mainly ossification of a lambdoid seam, an expanded Turkish saddle, a pathological shape of vertebras ("fish vertebrae"), curvatures of a beam bone, deformation meta - and an epiphysis of long tubular bones, short and stupid metacarpal bones and phalanxes.
Patients live no more than 10 — 12 years. The death occurs from cardiopulmonary insufficiency.

 
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