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First Case of Peroxisomal D-bifunctional Protein Deficiency with Novel HSD17B4 Mutations and Progressive Neuropathy in Korea

Journal of Korean Medical Science 2020년 35권 39호 p.357 ~ 357
배은영, 이윤영, 임한혁, 이지원, 이봉진, 김승연, 김유미,
소속 상세정보
배은영 ( Bae Eun-Young ) - Chungnam National University College of Medicine Chungnam National University Hospital Department of Pediatrics
이윤영 ( Yi Yoon-Young ) - Chungnam National University College of Medicine Chungnam National University Hospital Department of Pediatrics
임한혁 ( Lim Han-Hyuk ) - Chungnam National University College of Medicine Chungnam National University Hospital Department of Pediatrics
이지원 ( Lee Ji-Won M. ) - Chungnam National University College of Medicine Chungnam National University Hospital Department of Pediatrics
이봉진 ( Lee Bong-Jin ) - Chungnam National University College of Medicine Chungnam National University Hospital Department of Pediatrics
김승연 ( Kim Seung-Yeon ) - Eulji University Daejeon Eulji Medical Center Department of Pediatrics
김유미 ( Kim Yoo-Mi ) - Chungnam National University College of Medicine Chungnam National University Hospital Department of Pediatrics

Abstract


Peroxisomal D-bifunctional protein (DBP), encoded by the HSD17B4 gene, catalyzes β-oxidation of very long chain fatty acids (VLCFAs). The deficiency of this peroxisomal enzyme leads to the accumulation of VLCFAs, causing multisystemic manifestations including the brain, retina, adrenal gland, hearing, and skeletal system. Herein, we report the first Korean neonatal case of peroxisomal DBP deficiency and the clinical prognosis over 2 years. This patient showed craniofacial dysmorphism, club foot, and seizures with cyanosis one day after birth. Elevated VLCFAs levels were indicative of a peroxisomal disorder. Targeted exome sequencing was performed and two missense mutations p.Asp117Val and p.Phe279Ser in the HSD17B4 gene were identified. The patient had type III DBP deficiency; therefore, docosahexaenoic acid and non-soluble vitamins were administered. However, progressive nystagmus, optic nerve atrophy, and bilateral hearing defects were observed and follow-up brain imaging revealed leukodystrophy and brain atrophy. Multiple anti-epileptic drugs were required to control the seizures. Over two years, the patient achieved normal growth with home ventilation and tube feeding. Hereby, the subject's parents had support during the second pregnancy from the proven molecular information. Moreover, targeted exome sequencing is an effective diagnostic approach, considering genetic heterogeneity of Zellweger spectrum disorders.

키워드

Neonate; Hypotonia; Peroxisomal Disorder; HSD17B4

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