Menkes 병의 뇌 자기공명 영상 및 자기공명 혈관 조영술의 소견 = Neuroradiological Findings in a Case of Menke's Disease

국문 초록 (Abstract)

저자들은 심한 발달 저하 및 발작을 주소로 방문한 8개월 남아에서 특징적인 머리카락, 혈액, 소견 등을 통해 드문 질환으로 알려진 Menkes 병을 진단하였고 또한 Menkes 병의 특징적인 뇌 자기공명 및 자기공명 뇌혈관 조영술의 소견을 보고하는 바이다. 자기공명 뇌혈관 조영술은 이 병이 의심되는 환아에서 조기 진단을 내릴 수 있는데 도움이 될뿐만아니라 추적 검사시에도 유용할 것으로 사료된다.

다국어 초록 (Multilingual Abstract)

Menkes disease is an X-linked recessively inherited neurodiegenerative disorder of copper metabolism leading to death in early childhood. This disease is characterized by low serum, liver and brain Cu levels, whereas the Cu content in nearly all other organs is increased. the main clinical features are irregular kinky hair, characteristic face, progressive degeneration of the central nervous system, bone changes, arterial rupture and thrombosis, and instability of temperature.
We have experienced a case of Menkes disease in a eight months old male patient, who manifested by seizure, developmental delay, hypotonia, characteristic hair and face along with low lwvels of serum copper and ceruloplasmin. We report the characteristic findings of cranial MRI and MR angiography in this Menke's patient. I n cranial MRI, he showed progressive brain atrophy with subdural hemorrhage and effusion. MR angio-graphy revealed tortuosity of vessels clearly obviating necessity of more invasive conventional arteriography in diagnosis of this disease.
This study suggested that cranial MRI and especially MR angiography might be helpful in making early diagnosis of this disease.