Diagnostic imaging features of Menkes disease / 中华放射学杂志

ABSTRACT

Objective To analyze the imaging features of Menkes disease in children, and in order to identify the diagnostic value and improve the knowledge of it. Methods The imaging findings of 9 Menkes disease patients confirmed by the clinical and laboratory examinations were retrospectively analyzed. All the patients were male aged from 2.0 to 7.0 months with a median age of 3.0 months. The clinical manifestations including seizures, psychomotor retardation, dystonia accompanied with light complexion and curly hair. The laboratory examinations showed low serum copper and ceruloplasmin levels. All the patients were performed with plain MR scan and MR angiography, 7 cases were performed with chest X?ray examinations and 4 cases were performed with bone X?ray examinations and 1 were performed with hand X?ray examinations. Results The plain MR scan showed white matter lesions in 8 cases, abnormality signal intensity of basal ganglia in 4 cases, subdural effusion in 2 cases. 8 cases had cerebral and cerebellar atrophy at different degrees. The MR angiography showed abnormal tortuosity of the main intracranial arteries. The chest X?ray of 5 in 7 cases showed that the front end of bilateral ribs were spherical and enlarged. 4 cases were performed with bone X?ray presenting, 3 out of 4 cases showed the widened metaphysis of tibia, fibula, femoral, humerus ulna and radius with the shape like cup?mouth and the formation of bony spur locally. The X ray examination of 1 case with connecting palm showed symphysodactylia. Conclusion Brain MR, X?ray of chest and bone showed imaging features of Menkes disease. MR angiography finding was the most distinctive feature, which has important value in the diagnosis of Menkes disease.