Congenital CLN disease in two siblings

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 re...

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Published in:Wiener medizinische Wochenschrift 2015-05, Vol.165 (9-10), p.210-213
Main Authors: Meyer, Sascha, Yilmaz, Umut, Kim, Yoo-Jin, Steinfeld, Robert, Meyberg-Solomayer, Gabriele, Oehl-Jaschkowitz, Barbara, Tzschach, Andreas, Gortner, Ludwig, Igel, Julia, Schofer, Otto
Format: Article
Language:English
Subjects:
Adult
Brain - abnormalities
Brain - pathology
Case Report
Cathepsin D - deficiency
Cathepsin D - genetics
Chromosome Aberrations
Consanguinity
Diagnosis, Differential
Ethics, Medical
Euthanasia, Passive - ethics
Family Medicine
Female
General Practice
Genes, Recessive - genetics
Genetic Carrier Screening
Geriatrics/Gerontology
Humans
Infant, Newborn
Infectious Diseases
Internal Medicine
Male
Medicine
Medicine & Public Health
Neuronal Ceroid-Lipofuscinoses - diagnosis
Neuronal Ceroid-Lipofuscinoses - genetics
Neuronal Ceroid-Lipofuscinoses - therapy
Palliative Care - ethics
Pharmacology/Toxicology
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Summary: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.
ISSN:0043-5341
1563-258X
DOI:10.1007/s10354-015-0359-4