TAY-SACHS HASTALIĞI; MR BULGULARI: OLGU SUNUMU

Serkan Gür; Bünyamin Güney; Celal Çınar; Recep Savaş

EN TR

TAY-SACHS DISEASE; MR DEMONSTRATION: A CASE REPORT

Abstract

Tay-Sachs disease is a rare disorder of the sphingolipid metabolism in Which a hexosaminidase A defect causes a metabolic block leading to an abnormal accumulation of GM2 ganglioside in brain tissue. In conclusion, extensive neuronal celi loss and White matter degeneration with storage of lipid breakdoWn products lead to brain atrophy. This case report of Tay-Sachs disease in 28 mounth-old girl illustrates the phase 2-3 findings that may be seen on Magnetic Resonans Imaging. The incompatibility in findings between In our case and literature will be discussed. MR provides valuable Information in diagnosis and course of this disease.

Keywords

Tay-Sachs Disease, MRI

Details

Primary Language

Turkish

Subjects

-

Journal Section

-

Authors

Serkan Gür

Bünyamin Güney

Celal Çınar

Recep Savaş

Publication Date

September 1, 2003

Submission Date

September 1, 2003

Acceptance Date

-

Published in Issue

Year 2003 Volume: 42 Number: 3

IZ

https://izlik.org/JA53SY42BH

Cite

RIS / Bibtex

Vancouver

1.Serkan Gür, Bünyamin Güney, Celal Çınar, Recep Savaş. TAY-SACHS HASTALIĞI; MR BULGULARI: OLGU SUNUMU. EJM [Internet]. 2003 Sep. 1;42(3):189-92. Available from: https://izlik.org/JA53SY42BH

TAY-SACHS DISEASE; MR DEMONSTRATION: A CASE REPORT

TAY-SACHS DISEASE; MR DEMONSTRATION: A CASE REPORT

Abstract

Keywords