Ceroid Lipofuscinosis in Children: Correspondence

We would like to share ideas on “Neuronal Ceroid Lipofuscinosis: Clinical and Laboratory Profile in Children from Tertiary Care Centre in South India.”[1] Prajapati et al noted that “Infantile onset with thalamic atrophy on MRI is common in CLN1 and refractory epilepsy, visual impairment, and specific EEG changes are common … diagnosis and genetic testing in subtyping. Thus, a multimode approach played a role in the diagnosis of NCL.”[1] We agree that observations in the present report might be clinically useful. Some clinical features might be more common in CLN1, whereas others are more common in CLN2. The observed patterns in a previous Indian report showed some differences.[2] Due to the few patients and since there is no statistical proof for difference, the observed clinical features might not be able to discriminate and might not “helpful in selecting enzyme assay for CLN1 versus CLN2.”

Publikationsverlauf

Eingereicht: 23. November 2021

Angenommen: 03. Januar 2022

Artikel online veröffentlicht:
21. Februar 2022

• 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
• 2 Kamate M, Reddy N, Detroja M, Hattiholi V. Neuronal ceroid lipofuscinoses in children. Ann Indian Acad Neurol 2021; 24 (02) 192-197