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Erschienen in: Wiener Medizinische Wochenschrift 9-10/2015

01.05.2015 | case report

Congenital CLN disease in two siblings

verfasst von: Sascha Meyer, Umut Yilmaz, Yoo-Jin Kim, Robert Steinfeld, Gabriele Meyberg-Solomayer, Barbara Oehl-Jaschkowitz, Andreas Tzschach, Ludwig Gortner, Julia Igel, Otto Schofer

Erschienen in: Wiener Medizinische Wochenschrift | Ausgabe 9-10/2015

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Summary

Background

Neuronal ceroid lipofuscinoses (NCL) is characterized by a combination of retinopathy, dementia, and epilepsy. As a group, they encompass ten distinct biological and clinical entities and are the most common type of childhood neurodegenerative disease.

Patients and methods

Case reports.

Results

We demonstrate the clinical course of two neonates (brother and sister) with infantile neuronal ceroid lipofuscinoses (NCL) (CLN 10 disease) presenting with intractable seizures and respiratory insufficiency immediately after birth. Characteristic clinical, radiological and pathological findings of this form of NCL are presented.

Conclusions

We conclude that the diagnosis of CLN10 should be kept in mind as a differential diagnosis in newborns presenting with respiratory insufficiency and severe epilepsy that is largely refractory to anti-epileptic drugs (AED) treatment. Because of the severity of CLN10 disease and futility of treatment, important ethical issues arise when caring for children with this clinical entity.
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Metadaten
Titel
Congenital CLN disease in two siblings
verfasst von
Sascha Meyer
Umut Yilmaz
Yoo-Jin Kim
Robert Steinfeld
Gabriele Meyberg-Solomayer
Barbara Oehl-Jaschkowitz
Andreas Tzschach
Ludwig Gortner
Julia Igel
Otto Schofer
Publikationsdatum
01.05.2015
Verlag
Springer Vienna
Erschienen in
Wiener Medizinische Wochenschrift / Ausgabe 9-10/2015
Print ISSN: 0043-5341
Elektronische ISSN: 1563-258X
DOI
https://doi.org/10.1007/s10354-015-0359-4

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