대한영상의학회지 (Journal of the Korean Society of Radiology)

  • 제84권3호
  • /
  • Pages.736-744
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  • 2023
  • /
  • 1738-2637(pISSN)
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  • 2288-2928(eISSN)
대한영상의학회 (The Korean Society of Radiology)
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성인형 알렉산더병의 자기공명영상 소견 및 추적 관찰상의 변화: 증례 보고

Characteristic MR Imaging Features and Serial Changes in Adult-Onset Alexander Disease: A Case Report

  • 오하윤 (을지대학교 의과대학 노원을지대학교병원 영상의학과) ;
  • 윤라경 (을지대학교 의과대학 노원을지대학교병원 영상의학과) ;
  • 이지예 (서울대학교 의과대학 서울대학교병원 영상의학과) ;
  • 권오현 (을지대학교 의과대학 의정부을지대학교병원 신경과) ;
  • 이웅우 (을지대학교 의과대학 노원을지대학교병원 신경과)
  • Ha Yun Oh (Department of Radiology, Nowon Eulji Medical Center, Eulji University College of Medicine) ;
  • Ra Gyoung Yoon (Department of Radiology, Nowon Eulji Medical Center, Eulji University College of Medicine) ;
  • Ji Ye Lee (Department of Radiology, Seoul National University Hospital, Seoul National University College of Medicine) ;
  • Ohyun Kwon (Department of Neurology, Uijeongbu Eulji Medical Center, Eulji University College of Medicine) ;
  • Woong-Woo Lee (Department of Neurology, Nowon Eulji Medical Center, Eulji University College of Medicine)
  • 투고 : 2021.01.21
  • 심사 : 2022.10.06
  • 발행 : 2023.05.01
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초록

성인형 알렉산더병은 운동 실조, 경련성 마비 또는 뇌간 징후를 나타내는 드문 유전 질환이다. 성인형 알렉산더병의 진단은 흔히 자기공명영상 검사 소견을 통해 내려진다. 이에 저자들은 glial fibrillary acidic protein (이하 GFAP) 유전자 변이 분석을 통해 확진된 37세와 61세 성인형 알렉산더병 환자의 특징적인 자기공명영상 소견과 추적 검사상 변화 사례에 대해 보고하고자 한다. 자기공명영상에서 환자들은 전형적인 뇌간 위축과 백질 이상 소견을 보였다. 특징적인 자기공명영상을 바탕으로 추정진단을 내렸으며 이후 GFAP 유전자 변이 분석을 통해 확진되었다. 또한, 추적 관찰 검사에서 연수와 상부 경부 척수 위축의 진행을 보였다. 이러한 성인형 알렉산더병의 특징적인 자기공명영상 소견에 대한 이해를 바탕으로, 감별진단을 위한 GFAP 유전자 검사 시행 결정에 도움이 될 수 있을 것이다.

Adult-onset Alexander Disease (AOAD) is a rare genetically determined leukoencephalopathy that presents with ataxia, spastic paraparesis, or brain stem signs including speech abnormalities, swallowing difficulties, and frequent vomiting. The diagnosis of AOAD is frequently proposed based on the findings on MRI. We demonstrate two cases (37-year-old female and 61-year-old female) with characteristic imaging findings and changes in follow-up MRI in patients with AOAD, which were confirmed via glial fibrillary acidic protein (GFAP) mutation analysis. On MRI, the typical tadpole-like brainstem atrophy and periventricular white matter abnormalities were noted. The presumptive diagnoses were made based on the typical MRI appearances and, subsequently, confirmed via GFAP mutation analysis. Follow-up MRI demonstrated the progression of atrophy in the medulla and upper cervical spinal cord. Our report could help raise awareness of characteristic MRI findings of AOAD, thus helping clinicians use GFAP analysis for AOAD diagnosis confirmation.

키워드

과제정보

The authors acknowledge Hye Young Han of the medical library for her valuable contribution.

참고문헌

  1. Li R, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, et al. Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. Ann Neurol 2005;57:310-326 
  2. Romano S, Salvetti M, Ceccherini I, De Simone T, Savoiardo M. Brainstem signs with progressing atrophy of medulla oblongata and upper cervical spinal cord. Lancet Neurol 2007;6:562-570 
  3. Farina L, Pareyson D, Minati L, Ceccherini I, Chiapparini L, Romano S, et al. Can MR imaging diagnose adultonset Alexander disease? AJNR Am J Neuroradiol 2008;29:1190-1196 
  4. Pareyson D, Fancellu R, Mariotti C, Romano S, Salmaggi A, Carella F, et al. Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature. Brain 2008;131(Pt 9):2321-2331 
  5. Graff-Radford J, Schwartz K, Gavrilova RH, Lachance DH, Kumar N. Neuroimaging and clinical features in type II (late-onset) Alexander disease. Neurology 2014;82:49-56 
  6. Prust M, Wang J, Morizono H, Messing A, Brenner M, Gordon E, et al. GFAP mutations, age at onset, and clinical subtypes in Alexander disease. Neurology 2011;77:1287-1294 
  7. van der Knaap MS, Naidu S, Breiter SN, Blaser S, Stroink H, Springer S, et al. Alexander disease: diagnosis with MR imaging. AJNR Am J Neuroradiol 2001;22:541-552 
  8. van der Knaap MS, Ramesh V, Schiffmann R, Blaser S, Kyllerman M, Gholkar A, et al. Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord. Neurology 2006;66:494-498 
  9. Namekawa M, Takiyama Y, Honda J, Shimazaki H, Sakoe K, Nakano I. Adult-onset Alexander disease with typical "tadpole" brainstem atrophy and unusual bilateral basal ganglia involvement: a case report and review of the literature. BMC Neurol 2010;10:21 
  10. Melchionda L, Fang M, Wang H, Fugnanesi V, Morbin M, Liu X, et al. Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant. Orphanet J Rare Dis 2013;8:66