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베타프로펠러단백질관련신경퇴행에서 보이는 뇌 자기공명영상과 도파민운반체영상

Findings of Magnetic Resonance and Dopamine Transporter Imaging in Beta-Propeller Protein-Associated Neurodegeneration

Article information

J Korean Neurol Assoc. 2021;39(3):239-240
Publication date (electronic) : August 1, 2021
doi : http://dx.doi.org/10.17340/jkna.2021.3.28
Seong Ho Jeong, MD
Department of Neurology, Inje University Sanggye Paik Hospital, Seoul, Korea
정승호
인제대학교상계백병원 신경과
Address for correspondence: Seong Ho Jeong, MD Department of Neurology, Inje University Sanggye Paik Hospital, 1342 Dongil-ro, Nowon-gu, Seoul 01757, Korea Tel: +82-2-950-8827 Fax: +82-2-950-1955 E-mail: s5632@paik.ac.kr
received : May 25, 2021 , rev-recd : June 17, 2021 , accepted : June 17, 2021 .

발달지연의 과거력, 지적장애가 동반된 39세 여자가 2년 전부터 발생한 보행장애를 주소로 내원하였다. 이상운동질환의 가족력 여부를 알 수 없었다. 신경계진찰에서 좌측의 파킨슨증과 근긴장이상증이 확인되었다. 뇌 자기공명영상검사의 경사에코영상에서 양측 흑색질과 담창구의 저신호강도가 보였고, T1강조영상에서 흑색질의 고신호 달무리징후(halo sign)가 보였다(Fig. A, B). 18F-N-3-Fluoropropyl-2β-carbonethoxy-3β-4-iodophenyl nortropane 양전자방출단층촬영에서는 우측이 심한 비대칭적 흡수감소양상을 보였다(Fig. C). 복제수변이(copy-number variation) 분석에서 WDR45 유전자에 구조적 결실(large deletion)이 확인되었다. 위의 소견을 종합하여 베타-프로펠러단백질관련 신경퇴행(beta-propeller protein-associated neurodegeneration, BPAN)으로 진단하였다. 레보도파/벤세라자이드(levodopa/benserazide) 100/25 mg 하루 3번 복 용하면서 파킨슨증이 50% 이상 호전되었다. BPAN은 WDR45 유전자 문제로 인한 성염색체 우성유전 신경퇴행질환으로 철축적 신경퇴행증(neurodegeneration with brain iron accumulation) 중 하나이다[1]. BPAN은 질병 특유의(pathognomic) 소견인 T1강조영상에서의 흑색질 고신호 달무리징후로 진단할 수 있다[2].

Figure.

MRI and DAT scan findings of beta-propeller protein-associated neurodegeneration. (A) The globus pallidus is variably hypointense on axial T2 and GRE sequence (white arrowheads). (B) The substantia nigra also showed hypointensity on axial T2 and GRE sequence (white arrowhead). Axial T1 sequence showed a halo of hyperintense signal surrounding a thin linear region of hypointense signal in the bilateral substantia nigra (white arrows). (C) DAT scan showed markedly reduced DAT binding activity in the right striatum (yellow arrowhead). There was also mildly decreased DAT binding activity in the left striatum (black arrowhead). MRI; magnetic resonance imaging, DAT; dopamine transporter, GRE; gradient echo.

References

1. Hogarth P. Neurodegeneration with brain iron accumulation: diagnosis and management. J Mov Disord 2015;8:1–13.
2. Stige KE, Gjerde IO, Houge G, Knappskog PM, Tzoulis C. Beta-propeller protein-associated neurodegeneration: a case report and review of the literature. Clin Case Rep 2018;6:353–362.

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Figure.

Figure.

MRI and DAT scan findings of beta-propeller protein-associated neurodegeneration. (A) The globus pallidus is variably hypointense on axial T2 and GRE sequence (white arrowheads). (B) The substantia nigra also showed hypointensity on axial T2 and GRE sequence (white arrowhead). Axial T1 sequence showed a halo of hyperintense signal surrounding a thin linear region of hypointense signal in the bilateral substantia nigra (white arrows). (C) DAT scan showed markedly reduced DAT binding activity in the right striatum (yellow arrowhead). There was also mildly decreased DAT binding activity in the left striatum (black arrowhead). MRI; magnetic resonance imaging, DAT; dopamine transporter, GRE; gradient echo.