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Literature DB >> 8811709

MRI in a case of Sandhoff's disease.

K Hittmair¹, D Wimberger, G Bernert, R Mallek, E G Schindler.

Abstract

An 18-month-old girl was examined by MRI for progressive psychomotor retardation. T2-weighted images demonstrated abnormal high signal in the putamina and low signal in the thalamus (due probably to calcification). Although the cerebral cortex was markedly atrophic, there were signs of brain enlargement because of swelling of the extensively diseased white matter. The diagnosis of Sandhoff's disease was established by low serum levels of hexosaminidase A and B.

Entities: Disease Species

Mesh：

Year: 1996 PMID： 8811709 DOI： 10.1007/bf02278152

Source DB: PubMed Journal: Neuroradiology ISSN： 0028-3940 Impact factor: 2.804

9 in total

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9 in total

7 in total

1. Infantile Sandhoff Disease: Unusual presentation.

Authors: C G Muralidharan; R P S Tomar
Journal: Med J Armed Forces India Date: 2016-02-22

Review 2. Decreased T2 signal in the thalami may be a sign of lysosomal storage disease.

Authors: Taina Autti; Raimo Joensuu; Laura Aberg
Journal: Neuroradiology Date: 2007-03-03 Impact factor: 2.804

3. Early changes in the apparent diffusion coefficient (ADC) in a mouse model of Sandhoff's disease occur prior to disease symptoms and behavioral deficits.

Authors: Lingyun Hu; Yingying Sun; Laura E Villasana; Richard Paylor; Eric Klann; Robia G Pautler
Journal: Magn Reson Med Date: 2009-11 Impact factor: 4.668

4. A case report of Sandhoff disease.

Authors: R Saouab; M Mahi; R Abilkacem; H Boumdin; S Chaouir; O Agader; T Amil; A Hanine
Journal: Clin Neuroradiol Date: 2010-12-10 Impact factor: 3.649

5. GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (An Iranian Pediatric Case Series).

Authors: Parvaneh Karimzadeh; Narjes Jafari; Habibeh Nejad Biglari; Sayena Jabbeh Dari; Farzad Ahmad Abadi; Mohammad-Reza Alaee; Hamid Nemati; Sasan Saket; Seyed Hasan Tonekaboni; Mohammad-Mahdi Taghdiri; Mohammad Ghofrani
Journal: Iran J Child Neurol Date: 2014

6. Canine GM2-Gangliosidosis Sandhoff Disease Associated with a 3-Base Pair Deletion in the HEXB Gene.

Authors: P Wang; P S Henthorn; E Galban; G Lin; T Takedai; M Casal
Journal: J Vet Intern Med Date: 2017-11-06 Impact factor: 3.333

7. Two-Year Follow-Up Magnetic Resonance Imaging and Spectroscopy Findings and Cerebrospinal Fluid Analysis of a Dog with Sandhoff's Disease.

Authors: D Ito; C Ishikawa; N D Jeffery; K Ono; M Tsuboi; K Uchida; O Yamato; M Kitagawa
Journal: J Vet Intern Med Date: 2018-02-25 Impact factor: 3.333

7 in total