야맹증을 주소로 한 Pantothenate Kinase-Associated Neurodegeneration (PKAN) 1예
A Case of Retinal Pigmentary Degeneration in PKAN
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목적: PKAN (Pantothenate Kinase-Associated Neurodegeneration)은 매우 드물게 보고되고 있는 철 대사 장애로 인한 신경퇴행성질환으로, 저자들은 PKAN 1예를 경험하였기에 보고하고자 한다. 증례요약: 6세 여아가 야맹과 발달지연 및 보행장애를 주소로 내원하였다. 신경학적 검사상 내족지 보행, 근육긴장이상, 경직, 구음장애를 보였으며, 안저 검사상 망막색소변성 소견을 보였고, 망막전위도 검사에서 막대세포 및 원뿔세포 반응 저하가 관찰되었다. 뇌 자기공명영상촬영에서 바닥핵에 철 침착 소견을 보여(eye of the tiger sign), 유전학적 검사를 시행하여 PKAN으로 진단하였다. 결론: 안저검사상 망막색소변성이 관찰되며, 신경학적 검사상 이상소견 및 발달장애 소견이 보일 때, PKAN을 감별진단으로 염두에두어야 할 것으로 생각한다.
Abstract
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.
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