Meyer Sascha, Yilmaz Umut, Kim Yoo-Jin, Steinfeld Robert, Meyberg-Solomayer Gabriele, Oehl-Jaschkowitz Barbara, Tzschach Andreas, Gortner Ludwig, Igel Julia, Schofer Otto
Department of Pediatrics and Neonatology (Neonatal Intensive Care Unit), University Children´s Hospital of Saarland/Saarland University Hospitals, Building 9, 66421, Homburg, Germany,
Wien Med Wochenschr. 2015 May;165(9-10):210-3. doi: 10.1007/s10354-015-0359-4. Epub 2015 Jun 10.
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.
Case reports.
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.
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.
神经元蜡样脂褐质沉积症（NCL）的特征是视网膜病变、痴呆和癫痫同时出现。作为一组疾病，它们包含十种不同的生物学和临床实体，是儿童期最常见的神经退行性疾病类型。
病例报告。
我们展示了两名患有婴儿型神经元蜡样脂褐质沉积症（NCL）（CLN 10病）的新生儿（兄妹）的临床病程，他们出生后立即出现难治性癫痫和呼吸功能不全。本文呈现了这种形式的NCL的特征性临床、放射学和病理学发现。
我们得出结论，对于出生时出现呼吸功能不全且患有严重癫痫且抗癫痫药物（AED）治疗大多无效的新生儿，应将CLN10的诊断作为鉴别诊断加以考虑。由于CLN10疾病的严重性和治疗的无效性，在照料患有这种临床病症的儿童时会出现重要的伦理问题。
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