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1. 神経セロイドリポフスチン症neuronal ceroid lipofuscinosis [show details]
… were late infantile NCL, mucopolysaccharidosis type III, metachromatic leukodystrophy, Rett syndrome, adrenoleukodystrophy, juvenile NCL, Krabbe disease, Tay-Sachs disease, Niemann Pick type C, and Sandhoff …
2. レノックス・ガストー症候群lennox gastaut syndrome [show details]
… Neuronal ceroid lipofuscinosis – Classic late infantile neuronal ceroid lipofuscinosis (CLN2 disease) presents between… For patients with newly diagnosed LGS that has evolved from another type of epilepsy, such as infantile spasms,… age, often in children with previously normal development. Typically, there is speech delay, developmental plateau, or loss of developmental milestones beginning in the second year of life, followed by the …
3. 症候性（二次性）ミオクローヌスsymptomatic secondary myoclonus [show details]
…including infantile (Tay-Sachs disease), late infantile, and juvenile onset; Hexosaminidase A and B deficiency (Sandhoff disease) Krabbe leukodystrophy; Neuronal ceroid lipofuscinosis; Sialidosis types 1 and …
4. 小児における痙攣とてんかん：臨床検査診断seizures and epilepsy in children clinical and laboratory diagnosis [show details]
… Studies to consider in infants and children with unexplained seizures, particularly those with developmental delay and abnormal neurologic examination,… Infants with this disorder have slowly progressive neurologic deterioration, seizures (often absence-type),… and neuronal ceroid lipofuscinosis, among others. Whole exome sequencing – Whole exome sequencing may be considered in infants who present with epilepsy…
5. 造影剤過敏症：非即時（遅延）反応radiocontrast hypersensitivity nonimmediate delayed reactions [show details]
…positive rate in patients with delayed reactions (any type) on either delayed reading of IDT or PT was 26 percent (95% CI 15-41 percent) . The pooled positive rates of SPTs, delayed reading of IDTs, and PTs …

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異染性白質ジストロフィー症ゴーシェ病図1 概要、欠損酵素

★リンクテーブル★

リンク元	「ヤンスキー・ビールショウスキー病」「late infantile neuronal ceroid lipofuscinosis」
関連記事	「神経」「乳児」「遅発」「沈着」「症」