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Congenital CLN disease in two siblings

Kongenitale CLN10 Erkrankung bei zwei Geschwistern

  • case report
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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.

Zusammenfassung

Hintergrund

Die neuronalen Zeroidlipofuszinosen (NCL) sind klinisch charakterisiert durch die Trias: Retinopathie, dementieller Abbau und Epilepsie. Die NCLs umfassen 10 verschiedene Krankheitsentitäten/Subtypen und stellen insgesamt die größte Gruppe der neurodegenerativen Erkrankungen im Kindesalter dar.

Patienten und Methodik

Fallberichte.

Ergebnisse

Es wird der klinische Verlauf von zwei Neonaten (Bruder und Schwester) mit infantiler NCL (CLN 10) dargestellt. Klinisch im Vordergrund standen unmittelbar postnatal einsetzende, schwerste, therapierefraktäre zerebrale Anfälle mit begleitender respiratorischer Insuffizienz. Die charakteristischen klinischen, radiologischen und pathologischen Befunde der CLN 10-Erkrankung werden dargestellt.

Zusammenfassung

Wir schlussfolgern, dass Erkrankungen aus dem Formenkreis der NCL (CLN 10) als Differenzialdiagnose bei Neugeborenen mit therapierefraktärem Anfallsleiden und respiratorischer Insuffizient in Betracht gezogen werden sollten. Aufgrund der Schwere der Erkrankung und der fehlenden therapeutischen Optionen sind bei Neonaten mit CLN10-Erkrankung schwerwiegende ethische Entscheidungen zu treffen (Therapieabbruch).

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Conflict of Interest

S. Meyer, U. Yilmaz, Y.-J. Kim, R. Steinfeld, G. Meyberg-Solomayer, B. Oehl-Jaschkowitz, A. Tzschach, L. Gortner, J. Igel,and O. Schofer declare that there are no actual or potential conflicts of interest in relation to this article.

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Authors and Affiliations

  1. Department of Pediatrics and Neonatology (Neonatal Intensive Care Unit), University Children´s Hospital of Saarland/Saarland University Hospitals, Building 9, 66421, Homburg, Germany

    Sascha Meyer & Ludwig Gortner

  2. Klinik für Neuroradiologie, Universitätsklinikum des Saarlandes, Homburg, Germany

    Umut Yilmaz

  3. Institut für Allgemeine und Spezielle Pathologie, Universitätsklinikum des Saarlandes, Homberg, Germany

    Yoo-Jin Kim

  4. Zentrum Kinderheilkunde und Jugendmedizin, Universitätsmedizin Göttingen, Göttingen, Germany

    Robert Steinfeld

  5. Klinik für Frauenheilkunde, Geburtshilfe und Reproduktionsmedizin, Universitätsklinikum des Saarlandes, Homburg, Germany

    Gabriele Meyberg-Solomayer

  6. Praxis für Humangenetik, Homburg, Germany

    Barbara Oehl-Jaschkowitz

  7. Institut für Humangenetik, Universitätsklinikum Tübingen, Tübingen, Germany

    Andreas Tzschach

  8. Marienhausklinik St. Josef Kohlhof, Neunkirchen, Germany

    Julia Igel & Otto Schofer

Authors
  1. Sascha Meyer
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  2. Umut Yilmaz
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  3. Yoo-Jin Kim
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  4. Robert Steinfeld
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  5. Gabriele Meyberg-Solomayer
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  6. Barbara Oehl-Jaschkowitz
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  7. Andreas Tzschach
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  8. Ludwig Gortner
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  9. Julia Igel
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  10. Otto Schofer
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Corresponding author

Correspondence to Sascha Meyer.

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Meyer, S., Yilmaz, U., Kim, YJ. et al. Congenital CLN disease in two siblings. Wien Med Wochenschr 165, 210–213 (2015). https://doi.org/10.1007/s10354-015-0359-4

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  • DOI: https://doi.org/10.1007/s10354-015-0359-4

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