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Journal of the Korean Child Neurology Society 1998;6(1):106-112.
Published online October 30, 1998.
Neuroradiological Findings in a Case of Menke's Disease.
So Hee Chung, Mun Hyang Lee, Hye Kyung Yoon, Bo Kyung Kim, Hee Jung Chung
Abstract
Menkes disease is an X-linked recessively inherited neurodegenerative 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, progresssive 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 levels of serum copper and ceruloplasmin. We report the characteristic findings of cranial MRI and MR angiography in this Menke's patient. In cranial MRI, he showed progressive brain atrophy with subdural hemorrhage and effusion. MR angiography 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.
Key Words: Menkes Disease, Progressive Neurodegeneration, Copper, MRI, MRA


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