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J Pediatr Genet 2022; 11(02): 172
DOI: 10.1055/s-0042-1748157
Letter to the Editor

Ceroid Lipofuscinosis in Children: Author's Reply

Vykuntaraju K. Gowda
1   Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India
› Institutsangaben Funding None.
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We thank readers for critically evaluating our research study.[1] The queries raised are addressed below.

We agree with reviewers' comments on clinical features that might not be able to discriminate and might not be helpful in selecting enzyme assay for CLN1 versus CLN2. Kamate et al reported that thalamic hypointensity is common in CLN1 similar to our cohort.[2] Along with clinical features, neuroimaging features and electroencephalograph findings are helpful in selecting enzyme assay in developing countries where financial constraint is a major factor for genetic testing.

Author's Contribution

V.K. drafted and reviewed the manuscript.




Publikationsverlauf

Eingereicht: 26. Dezember 2021

Angenommen: 16. April 2022

Artikel online veröffentlicht:
02. Mai 2022

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  • References

  • 1 Gowda VK, Vegda H, Sugumar K. et al. Neuronal ceroid lipofuscinosis: clinical and laboratory profile in children from tertiary care centre in South India. J Pediatr Genet 2020; 10 (04) 266-273
    PubMedSuche in Google Scholar
  • 2 Kamate M, Reddy N, Detroja M, Hattiholi V. Neuronal ceroid lipofuscinoses in children. Ann Indian Acad Neurol 2021; 24 (02) 192-197
    CrossrefPubMedSuche in Google Scholar