Haltia-Santavuori disease

Haltia-Santavuori disease
a rare infantile form of neuronal ceroid-lipofuscinosis, beginning about one year of age, with excessive storage of lipofuscin, failure to thrive, myoclonic seizures, muscular hypotonia, psychomotor developmental delay and deterioration, blindness with optic atrophy and cerebellar ataxia, and death within about 5 years.

Medical dictionary. 2011.

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  • Haltia-Santavuori disease — Hal·tia San·ta·vu·ori disease (hahlґte ah sahn″tah vwoґre) [M. Haltia, Finnish physician, 20th century; Pirkko Santavuori, Finnish physician, 20th century] see under disease …   Medical dictionary

  • Santavuori disease (syndrome) — San·ta·vuo·ri disease (syndrome) (sahn″tah vwoґre) [Pirkko Santavuori, Finnish physician, 20th century] Haltia Santavuori disease; see under disease …   Medical dictionary

  • Santavuori disease — Santavuori Haltia disease Haltia Santavuori d …   Medical dictionary

  • Santavuori-Haltia disease (syndrome) — San·ta·vuo·ri Hal·tia disease (syndrome) (sahn″tah vwoґre hahlґte ah) [P. Santavuori; M. Haltia, Finnish physician, 20th century] Haltia Santavuori disease; see under disease …   Medical dictionary

  • Santavuori syndrome — Santavuori Haltia syndrome Haltia Santovuori disease …   Medical dictionary

  • ceroid-lipofuscinosis — neuronal ceroid lipofuscinosis a term for several genetic lipidoses of diverse biochemical and clinical characteristics, all characterized by progressive neurodegeneration, loss of vision, and a fatal course; the infantile type is Haltia… …   Medical dictionary

  • Infantile neuronal ceroid lipfuscinosis — Infobox Disease Name = Infantile neuronal ceroid lipfuscinosis Caption = DiseasesDB = 31533 ICD10 = ICD9 = ICDO = OMIM = 256730 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = D009472 INCL, also known as Infantile Neuronal Ceroid… …   Wikipedia

  • Neuronal ceroid lipofuscinosis — Classification and external resources ICD 10 E75.4 ICD 9 330.1 …   Wikipedia

  • lipofuscinosis — Abnormal storage of any one of a group of fatty pigments. ceroid l. SYN: Batten disease. neuronal ceroid l. a group of diseases characterized by accumulation of abnormal pigments in tissue (previously classified as …   Medical dictionary

  • CLN5 — Ceroid lipofuscinosis, neuronal 5, also known as CLN5, is a human gene.cite web | title = Entrez Gene: CLN5 ceroid lipofuscinosis, neuronal 5| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=1203| accessdate …   Wikipedia

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