title: Congenital CLN disease in two siblings.
abstract: 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.
  
  
  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.
authors.affiliation: 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@uks.eu.
authors.forename: Sascha
authors.initials: S
authors.lastname: Meyer
authors.forename: Umut
authors.initials: U
authors.lastname: Yilmaz
authors.forename: Yoo-Jin
authors.initials: YJ
authors.lastname: Kim
authors.forename: Robert
authors.initials: R
authors.lastname: Steinfeld
authors.forename: Gabriele
authors.initials: G
authors.lastname: Meyberg-Solomayer
authors.forename: Barbara
authors.initials: B
authors.lastname: Oehl-Jaschkowitz
authors.forename: Andreas
authors.initials: A
authors.lastname: Tzschach
authors.forename: Ludwig
authors.initials: L
authors.lastname: Gortner
authors.forename: Julia
authors.initials: J
authors.lastname: Igel
authors.forename: Otto
authors.initials: O
authors.lastname: Schofer
mesh_terms: D000328:Adult; D001921:Brain / Q000002:abnormalities / Q000473:pathology; D002402:Cathepsin D / Q000172:deficiency* / Q000235:genetics; D002869:Chromosome Aberrations; D003241:Consanguinity; D003937:Diagnosis, Differential; D004992:Ethics, Medical; D005066:Euthanasia, Passive / Q000941:ethics; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006580:Genetic Carrier Screening; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D010166:Palliative Care / Q000941:ethics
chemical_list: D002402:Cathepsin D