AI Article Synopsis
- Neuronal ceroid lipofuscinoses (NCL) is a serious childhood neurodegenerative disease that presents with symptoms like retinopathy, dementia, and epilepsy, and includes ten different forms.
- Two infants, a brother and sister, were diagnosed with infantile NCL (CLN 10 disease) and exhibited severe seizures and respiratory issues just after birth, highlighting specific clinical and imaging characteristics.
- Clinicians should consider CLN10 as a potential diagnosis in newborns with severe epilepsy and respiratory problems, raising important ethical considerations regarding treatment options due to the disease's severity and limited effectiveness of current therapies.
Article 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.
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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| http://dx.doi.org/10.1007/s10354-015-0359-4 | DOI Listing |
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