Table of Contents

HK J Paediatr (New Series)
Vol 14. No. 1, 2009

HK J Paediatr (New Series) 2009;14:37-41

Case Report

Neonatal Seizure: A Rare Aetiology Easily Missed by Routine Metabolic Screening

LY Siu, L Kwong, SN Wong, NS Kwong


We present the first Chinese case of D-bifunctional protein (DBP) deficiency, a single peroxisomal protein disorder. A non-dysmorphic, 2.53 kg hypotonic female infant developed seizure at fifty-six hours. After seizure onset, she lost her sucking and deep tendon reflex. On day 10, brain stem auditory evoked potential (BAEP) and visual evoked potential (VEP) studies showed marked impairment. Plasma amino acid, serum acylcarnitine pattern and urine organic acid analysis were normal. For persistent seizures, therapeutic trial of pyridoxine, biotin and folinic acid had no effect. Cerebrospinal fluid (CSF) glycine level and urine sulphite screen by Dipstick were normal. At eighth weeks of life, the markedly elevated level of very long chain fatty acid (VLCFA) level was identified. Subsequent biochemical tests revealed pattern consistent with peroxisomal DBP deficiency. Awareness of the suggestive clinical features and loopholes in the routine metabolic screening tests will facilitate early detection of this rare disorder.

我們報告中國首例過氧化物酶體單個蛋白質異常性疾病── D-雙功能蛋白質(DBP)缺陷。患兒為女嬰,外形無異常,出生體重2.53kg,肌張力低下。生後56小時出現驚厥,其後吸吮反射和深(腱)反射消失。生後10 天,檢測到腦幹聽覺誘發電位(BAEP)和視覺誘發電位(VEP)顯著損害。血漿氨基酸、血清醯基肉鹼譜、尿有機酸分析正常。試用維生素B6、生物素和甲醯四氫葉酸,持續抽搐無緩解。腦脊液甘氨酸水準正常,快速診斷試紙法(Dipstick)尿亞硫酸鹽篩查正常。8週齡時,檢測到血漿極長鏈脂肪酸(VLCFA)水準顯著升高。後續的生化檢測提示過氧化物酶體D-雙功能蛋白(DBP)缺乏。瞭解該病的臨床症侯群以及常規代謝病篩查會漏診的特點,有助於早期明確識別這種罕見疾病。

Keyword : Hypotonia; Neonate; Peroxisomal disorder; Seizure



This web site is sponsored by Johnson & Johnson (HK) Ltd.
©2022 Hong Kong Journal of Paediatrics. All rights reserved. Developed and maintained by Medcom Ltd.