Zellweger syndrome


Zellweger syndrome
A genetic disorder, also called the cerebrohepatorenal syndrome, characterized by the reduction or absence of peroxisomes (cell structures that rid the body of toxic substances) in the cells of the liver, kidneys, and brain. Zellweger syndrome is one of a group of disorders called the leukodystrophies, all of which affect the myelin sheath, the fatty covering which acts as an insulator on nerve fibers in the brain. The most common features of Zellweger syndrome include an enlarged liver, high levels of iron and copper in the blood, and vision disturbances. Some affected infants may show prenatal growth failure. Symptoms at birth may include lack of muscle tone and an inability to move. Other symptoms may include unusual facial characteristics, mental retardation, seizures, and an inability to suck and/or swallow. Jaundice and gastrointestinal bleeding may also occur. There is no cure for Zellweger syndrome and there is no standard course of treatment. Infections are guarded against to prevent such complications as pneumonia and respiratory distress. Other treatment is symptomatic and supportive. The prognosis (outlook) with Zellweger syndrome is poor. Death usually occurs within 6 months after onset, and may be caused by respiratory distress, gastrointestinal bleeding, or liver failure. The syndrome is caused by mutations (changes) in any of several different genes involved in peroxisome formation. These genes lie on at least two different chromosome locations including chromosome 2 (region 2p15) and chromosome 7 (region 7q21-q22). The syndrome is named for the Swiss-born pediatrician Hans Zellweger (1909-1990) who came to the US and for many years was at the University of Iowa.

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cerebrohepatorenal s.

Medical dictionary. 2011.

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  • Zellweger syndrome — Classification and external resources ICD 10 Q87.8 ICD 9 277.86 …   Wikipedia

  • Zellweger syndrome — Zellweger syndrome. См. синдром Цельвегера. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • Zellweger syndrome — ▪ pathology        congenital disorder characterized by complete absence or reduction in the number of peroxisomes (peroxisome) in cells (cell). In the mid 1960s Swiss American pediatrician Hans Zellweger described the familial disorder among… …   Universalium

  • Zellweger syndrome — noun A rare congenital disorder characterized by the reduction or absence of peroxisomes in the cells of the liver, kidneys, and brain and the inability to beta oxidize very long chain fatty acids. Syn: cerebrohepatorenal syndrome …   Wiktionary

  • Zellweger — may refer to:* Zellweger off peak, the brand name of an electric switching device * Zellweger syndrome, a rare congenital disorderPeople with the surname Zellweger:* Marc Zellweger (born 1973), Swiss football defender * Renée Zellweger (born… …   Wikipedia

  • Syndrome, cerebrohepatorenal — A genetic disorder, which is also called the Zellweger syndrome, characterized by the reduction or absence of peroxisomes (cell structures that rid the body of toxic substances) in the cells of the liver, kidneys, and brain. Zellweger syndrome is …   Medical dictionary

  • Syndrome, Zellweger — A genetic disorder, also called the cerebrohepatorenal syndrome, characterized by the reduction or absence of peroxisomes (cell structures that rid the body of toxic substances) in the cells of the liver, kidneys, and brain. Zellweger syndrome is …   Medical dictionary

  • Syndrome de zellweger — Le syndrome de Zellweger est une maladie de la fonction peroxysomale. Le syndrome de Zellweger est la manifestation la plus grave de mutations géniques qui se présentent également dans : l Adrénoleucodystrophie néonatale autosomique ;… …   Wikipédia en Français

  • Zellweger-Syndrom — Klassifikation nach ICD 10 Q87.8 Sonstige näher bezeichnete angeborene Fehlbildungssyndrome, andernorts nicht klassifiziert Zellweger Syndrom …   Deutsch Wikipedia

  • Syndrome de Zellweger — Le syndrome de Zellweger est une maladie de la fonction peroxysomale. Le syndrome de Zellweger est la manifestation la plus grave de mutations géniques qui se présentent également dans : l Adrénoleucodystrophie néonatale autosomique ;… …   Wikipédia en Français