갈락토키나아제 결핍증과 척수근위축증을 동반하여 나타난 양안 각막혼탁 = Bilateral Corneal Opacities with Galactokinase Deficiency and Spinal Muscular Atrophy

다국어 초록 (Multilingual Abstract)

Purpose: To report a case of bilateral corneal opacities and rare spinal muscular atrophy type III (Kugelberg-Welander disease) in a galactokinase-deficiency patient.
Case summary: A 6-year-old female presented with bilateral ground glass-like superficial stromal corneal opacities in the corneal center. The patient exhibited developmental motor delay. On muscle biopsy, skeletal muscle neurogenic atrophy consistent with spinal muscular atrophy type III, i.e., Kugelberg-Welander disease, was diagnosed, as well as galactokinase deficiency. On genetic examination, mutation analysis showed an A198V mutation of galactokinase in chromosome 17q24 (“Osaka” variant).
Conclusions: Bilateral corneal opacities and spinal muscular atrophy type III was found in a galactokinase-deficiency patient.

국문 초록 (Abstract)

목적: 갈락토키나아제 결핍증에 드문 척수근위축증인 쿠겔베르그-웰란더병과 양안 각막혼탁이 동반되어 나타난 1예를 경험하였기에 이를 보고하고자 한다.
증례요약: 6세 여자 환자가 양안 각막의 중심에서 간유리같은 혼탁이 기질표층에서 관찰되어 내원하였다. 환아는 운동발달 지연을 보였다. 근육생검상 골격근 신경위축증의 하나인 척수근위축증 제 3형인 쿠겔베르그-웰란더병으로 진단되었다. 갈락토오스혈증효소검사상 갈락토키나아제 결핍증으로 진단받았으며, 유전자 변이 분석에서 17q24에서 갈락토키나아제의 A198V 변이인 “오사카” 변이가 관찰되었다.
결론: 갈락토키나아제 결핍증 환아에서 척수근위축증 3형과 양안 각막혼탁이 동반되어 나타났다.

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