vanishing white matter disease

vanishing white matter disease
an autosomal recessive type of leukodystrophy, seen most often in young children, characterized by hypomyelination of variable severity; it usually develops slowly, although there may be rapid deterioration after an infection or head trauma. Affected children have spasticity and stiffness of the limbs; in severe cases there may be lethargy, optic atrophy, coma, and eventually death. Called also childhood ataxia with central nervous system hypomyelination.

Medical dictionary. 2011.

Игры ⚽ Нужен реферат?

Look at other dictionaries:

  • Leukoencephalopathy with vanishing white matter — Classification and external resources OMIM 603896 Leukoencephalopathy with vanishing white matter (VWM disease) is an autosomal recessive neurological disease. The cause of the disease are mutations in any of the 5 genes encoding subunits of the… …   Wikipedia

  • Leukoencephalopathy with vanishing white matter — An inherited brain disease that occurs mainly in children. and follows a chronic progressive course with additional episodes of rapid deterioration following stress from febrile infection or minor head trauma. Leukoencephalopathy with vanishing… …   Medical dictionary

  • vanishing white matter leukodystrophy — see under disease …   Medical dictionary

  • I-cell disease — Classification and external resources Mannose 6 phosphate (M6P). I cell disease involves a failure to add M6P to proteins. ICD 10 E …   Wikipedia

  • Von Hippel–Lindau disease — Von Hippel–Lindau Classification and external resources Typical distribution of hemangioblastomas in Von Hippel–Lindau disease. ICD 10 Q …   Wikipedia

  • childhood ataxia with central nervous system hypomyelination — vanishing white matter disease …   Medical dictionary

  • Leukodystrophy — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 32504 ICD10 = ICD10|E|71|3|e|70, ICD10|E|75|2|e|70 ICD9 = ICD9|330.0 ICDO = OMIM = MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Leukodystrophy refers to a group of disorders… …   Wikipedia

  • EIF2B1 — Eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa, also known as EIF2B1, is a human gene.cite web | title = Entrez Gene: EIF2B1 eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa| url =… …   Wikipedia

  • EIF2B4 — Eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa, also known as EIF2B4, is a human gene.cite web | title = Entrez Gene: EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa| url =… …   Wikipedia

  • EIF2B3 — Eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa, also known as EIF2B3, is a human gene.cite web | title = Entrez Gene: EIF2B3 eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa| url =… …   Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”