야맹증을 주소로 한 Pantothenate Kinase-Associated Neurodegeneration (PKAN) 1예

• 영문명: A Case of Retinal Pigmentary Degeneration in PKAN
• 발행기관: 대한안과학회
• 저자명: 조성호 전종근 김용우 정재호,Seong Ho Jo, MD, Chong Kun Cheon, MD, PhD, Yong U Kim, MD, PhD, Jae Ho Jung, MD, PhD
• 간행물 정보: 『대한안과학회지』Ophthalmological Society,volume54,number3, 529~533쪽, 전체 5쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2013.03.15

영문 초록

Purpose: Pantothenate kinase-associated neurodegeneration (PKAN), also known as neurodegeneration with brain iron accumulation is an extremely rare degenerative disease. The present study reports a case of retinal pigmentary changes in PKAN. Case summary: A 6-year-old girl presented with night blindness and developmental delay. Neurologic examination revealed toe gait and dystonia. Ocular examination showed retinal pigmentary change in the entire retina without optic atrophy. Brain magnetic resonance imaging showed iron deposits in the basal ganglia, the so-called “eye of the tiger” sign. Genetic tests confirmed a mutation in the gene encoding pantothenate kinase 2. Electroretinography demonstrated severe loss of rod and cone responses, prominently reduced in the rod response. The patient was diagnosed with PKAN and pharmacologic treatment started. Conclusions: In the case of systemic neurological abnormalities with pigmentary retinal change, PKAN should be considered as a differential diagnosis.

키워드

Iron, Pantothenate kinase-associated neurodegeneration, Retinal degeneration