Tay Sachs disease: An autopsy case report

Indian Journal of Pathology and Microbiology

Volumn 48, Issue 4, 2005, Pages 479-480

  Jadhav, Meenal Vitthal ^a,b   Landge, Meenal P ^a   Sawaimoon, Satyakam K ^a   Harke, Arun B ^a   Deshmukh, Sanjay D ^a  

^a B J MEDICAL COLLEGE   (India)

^b NONE   (India)

Author keywords

Neurodegenerative lysosomal storage disease; Tay Sachs disease

Indexed keywords

ANAMNESIS; ARTICLE; AUTOPSY; CASE REPORT; CELL SWELLING; CELL VACUOLE; CHERRY RED SPOT; CLINICAL FEATURE; ENZYME ANALYSIS; FAILURE TO THRIVE; FAMILY; FLACCID PARALYSIS; HUMAN; LABORATORY TEST; MALE; MICROSCOPY; NERVE CELL; OPHTHALMOSCOPY; PRESCHOOL CHILD; RETINA MACULA LUTEA; SIBLING; TAY SACHS DISEASE;

AUTOPSY; BRAIN; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; HUMANS; INDIA; MALE; TAY-SACHS DISEASE;

EID: 28844440927     PISSN: 03774929     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (9)

1. th ed. Singapore: Mosby, 1996:283-310.
2. 2 gangliosidoses: a review of cases confirmed by b-N-acetyl hexosaminidase assay. Indian J Pediatr 1995; 62:479-83.
3. Devidayal, Marwaha RK, Singh P, Trehan A. Ptosis in late infantile Tay-Sachs disease. Indian J Pediatr 2001; 68: 463-5.
4. 2 Gangliosidosis and their application in prenatal diagnosis. Indian J Pediatr 1995; 62:485-9.
5. th ed. Bangalore: W.B. Saunders Company, 1996: 370-7.
6. Ambani LM, Bhatia RS, Shah SB, Apte BN. Prenatal diagnosis of Tay-Sachs disease. Indian Pediatr 1989; 26:1052-3.
7. Sheth J, Bhattacharya R, Sheth F. Prenatal diagnosis of Tay-Sachs b1 variant in a Maharashtrian family. Indian Pediatr 2002; 39:704-5.
8. ICMR collaborating centers and central coordinating unit. Multicentric study on genetic causes of mental retardation in India. Indian J Med Res 1991; 94:161-9.
9. Christopher R, Nalini A. Cerebral lipidoses in patients with neurodegeneration: a study from south India. Community Genet 2002; 5:186-91.