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Case Report: Rapid Treatment of Uridine-Responsive Epileptic Encephalopathy Caused by CAD Deficiency.

ABSTRACT: We present two unrelated Chinese patients with CAD deficiency manifesting with a triad of infantile-onset psychomotor developmental delay with regression, drug-refractory epilepsy, and anaemia with anisopoikilocytosis. Timely translation into uridine supplementation, within 2-months of disease onset, allowed us to stop conventional anti-epileptic drugs and led to dramatic improvement in the clinical symptoms, with prompt cessation of seizures, resolution of anaemia, developmental progress, and prevention of development of severe and non-reversible manifestations. The remarkable recovery and prevention of advanced disease with prompt treatment, highlights the need to act immediately upon genetic diagnosis of a treatable disease. This further reinforces CAD deficiency as a treatable neurometabolic disorder and emphasises the need for a biomarker or genetic new born screening for early identification.

SUBMITTER: Zhou L

PROVIDER: S-EPMC7750521 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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Case Report: Rapid Treatment of Uridine-Responsive Epileptic Encephalopathy Caused by CAD Deficiency.

Zhou Ling L Deng Jie J Stenton Sarah L SL Zhou Ji J Li Hua H Chen Chunhong C Prokisch Holger H Fang Fang F

Frontiers in pharmacology 20201207

We present two unrelated Chinese patients with CAD deficiency manifesting with a triad of infantile-onset psychomotor developmental delay with regression, drug-refractory epilepsy, and anaemia with anisopoikilocytosis. Timely translation into uridine supplementation, within 2-months of disease onset, allowed us to stop conventional anti-epileptic drugs and led to dramatic improvement in the clinical symptoms, with prompt cessation of seizures, resolution of anaemia, developmental progress, and p ...[more]

PMID: 33364968

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Uridine-responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings.

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| S-EPMC7951104 | biostudies-literature

A Patient With CAD Deficiency Responsive to Uridine and Literature Review.

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Epileptic Encephalopathy

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Hyperammonemic encephalopathy caused by carnitine deficiency.

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Case Report: Toxic encephalopathy caused by repeated inhalation of liquid sealant.

Project description:Short-term exposure to high levels of organic solvents, as well as long-term exposure to small doses, can damage the central nervous system, thereby leading to toxic encephalopathy. However, toxic encephalopathy caused by long-term inhalation of liquid sealant is rarely reported. This study describes the clinical data of a case of toxic encephalopathy caused by repeated inhalation of liquid sealants and discusses the pathophysiological characteristics and treatment of organic solvent toxic encephalopathy. This report aims to strengthen the understanding of this disease among clinical staff.

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Pyridoxine-responsive KCNQ2 epileptic encephalopathy: Additional cases and literature review.

Project description:BackgroundTypical patients with KCNQ2 (OMIM# 602235) epileptic encephalopathy present early neonatal-onset intractable seizures with a burst suppression EEG pattern and severe developmental delay or regression, and those patients always fail first-line treatment with sodium channel blockers. Vitamin B6, either pyridoxine or pyridoxal 50-phosphate, has been demonstrated to improve seizure control in intractable epilepsy.MethodsHere, we collected and summarized the clinical data for four independent cases diagnosed with pyridoxine-responsive epileptic encephalopathy, and their exome sequencing data. Moreover, we reviewed all published cases and summarized the clinical features, genetic variants, and treatment of pyridoxine-responsive KCNQ2 epileptic encephalopathy.ResultsAll four cases showed refractory seizures during the neonatal period or infancy, accompanied by global development delay. Four pathogenetic variants of KCNQ2 were uncovered and confirmed by Sanger sequencing: KCNQ2 [NM_172107.4: c.2312C > T (p.Thr771Ile), c.873G > C (p.Arg291Ser), c.652 T > A (p.Trp218Arg) and c.913-915del (p. Phe305del)]. Sodium channel blockers and other anti-seizure medications failed to control their seizures. The frequency of seizures gradually decreased after treatment with high-dose pyridoxine. In case 1, case 2, and case 4, clinical seizures relapsed when pyridoxine was withdrawn, and seizures were controlled again when pyridoxine treatment was resumed.ConclusionOur study suggests that pyridoxine may be a promising adjunctive treatment option for patients with KCNQ2 epileptic encephalopathy.

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Adult Onset Episodic Encephalopathy Due to Citrin Deficiency-A Case Report.

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