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Neuroradiology Case of the Week

Case 406

May 2009

Hisao Nakamura, MD and Jeevak Almast, MD

Clinical Presentation: A 3-month-old child presented with an episode of duskiness/apnea in association with seizure activity on the morning of admission.

Imaging Findings: Tortuous cerebral vasculature and acute small cerebral infarction.

Diagnosis: Menkes' disease

Discussion: The laboratory tests revealed that both copper and ceruloplasmin were very low. Although the genetic results have not yet been delivered, Menkes’disease was diagnosed clinically.
     Menkes’disease is an X-linked recessive mitochondrial disorder that results from impaired intestinal absorption of copper.
     Radiological findings include marked intracranial vessel tortuosity, progressive white matter abnormalities, and subdural hematomas and hygromas in patients with Menkes’ disease. It was not until 2000 that cerebral infarction was firstly reported [1]. Several reasons are possible, but the dysfunction of lysyl oxidase which is a copper-dependent enzyme involved in the cross-linking of collagen and elastin and the formation of vascular architecture may be the primary cause [1]. Fragmentation of the internal elastic lamina of the arteries, irregular vessel wall thickness, and variation in the lumen of the arteries are seen in Menkes’ disease. As a result, blood flow may become erratic and turbulent, thus predisposing vessels to thrombotic occlusion and artery-to artery embolism with subsequent cerebral infarction.
     Regarding the treatment, no therapy to prevent the neurodegeneration of Menkes’ disease has been effective.

References:

1. Husain AM, Smergel E, Legido A, Faerber EN, Foley CM, Miles DK, Grover WD. Comparison of MRI and MRA findings in children with a variety of neurologic conditions. Pediatr Neurol. 2000 Oct;23(4):307-11. [PubMed]