Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

At a glance: The STEP trials

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.
ADVANCED SEARCH
Log in
Top
Indian Journal of Pediatrics
Published in: Indian Journal of Pediatrics 2/2018

01-02-2018 | Scientific Letter

Unusual Neuroimaging Finding in Infantile Tay-Sach’s Disease

Authors: Prashant Jauhari, Jyotindra Narayan Goswami, Naveen Sankhyan, Paramjeet Singh, Pratibha Singhi

Published in: Indian Journal of Pediatrics | Issue 2/2018

Login to get access

Excerpt

To the Editor: Tay-Sach’s disease is a lysosomal storage disorder characterized by signature neuroimaging pattern of bilaterally symmetrical thalamic hypointensities and late symmetrical white matter involvement [1]. We report an infant with Tay-Sach’s disease with atypical neuroimaging findings to sensitize readers about the same. The case portrays the role of clinical suspicion in justifying early enzymatic investigations for diagnosing this entity in the face of atypical neuroimaging. …
Literature
1.
Mugikura S, Takahashi S, Higano S, Kurihara N, Kon K, Sakamoto K. MR findings in Tay-Sachs disease. J Comput Assist Tomogr. 1996;20:551–5.CrossRefPubMed
2.
Hayase T, Shimizu J, Goto T, et al. Unilaterally and rapidly progressing white matter lesion and elevated cytokines in a patient with Tay–Sachs disease. Brain Dev. 2010;32:244–7.CrossRefPubMed
3.
Nassogne MC, Commare MC, Lellouch-Tubiana A, et al. Unusual presentation of GM2 gangliosidosis mimicking a brain stem tumor in a 3-year-old girl. Am J Neuroradiol. 2003;24:840–2.PubMed
Metadata
Title
Unusual Neuroimaging Finding in Infantile Tay-Sach’s Disease
Authors
Prashant Jauhari
Jyotindra Narayan Goswami
Naveen Sankhyan
Paramjeet Singh
Pratibha Singhi
Publication date
01-02-2018
Publisher
Springer India
Published in
Indian Journal of Pediatrics / Issue 2/2018
Print ISSN: 0019-5456
Electronic ISSN: 0973-7693
DOI
https://doi.org/10.1007/s12098-017-2429-7

Other articles of this Issue 2/2018

Indian Journal of Pediatrics 2/2018 Go to the issue

Original Article

Association of IL-10 Gene Polymorphism (−819C > T, −592C > A and −1082G > A) with Preterm Birth

Review Article

Malaria Free India – Possibility or Enigma?

Original Article

Expanding the Phenotype of the Founder South Asian Mutation in the Nuclear Encoding Mitochondrial RMND1 Gene

Review Article

Vaccine Safety and Surveillance for Adverse Events Following Immunization (AEFI) in India

Original Article

Normative Data for IVC Diameter and its Correlation with the Somatic Parameters in Healthy Indian Children

Editorial Commentary

Genetic Polymorphism and Preterm Birth