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Neuroradiology Case of the Week

Case 451

October 2009

Ashwani K. Sharma, MD

Clinical Presentation: An 8-month-old female child presented with hypoglycemia and acidosis immediately after birth and continued to have feeding difficulties. Muscle biopsy revealed deficiency in cytochrome c oxidase.

Imaging Findings: CT findings show lesions appearing as symmetrical areas of low attenuation in thalami, subthalami, periaqueductal area, medulla and medial cerebellar hemisphere. This CT scan appearance is of diagnostic significance in the appropriate clinical context.

Diagnosis: Cytochrome c oxidase (COX) deficiency in Leigh’s disease

Discussion: Leigh’s syndrome typically present towards the end of the first year of life. Defects in pyruvate dehydrogenase, cytochrome oxidase, or adenosine triphosphatase are responsible for the majority of cases.
     Major phenotypic forms of cytochrome oxidase deficiency are SURF1-Leigh syndrome, COX10-leukodystrophy , and SCO2-cardiomyopathic form [1].
     Pathologically spongiosis, focal necrosis, endothelial proliferation, reactive astrogliosis and demyelination involving bilateral basal ganglia, brainstem, cerebellar hemispheres and occasionally cerebrum and spinal cord are present [2].

References:

1. Robinson BH. Human cytochrome oxidase deficiency. Pediatr Res. 2000 Nov;48(5):581-5. PMID: 11044474 [PubMed]
2. Mannan AA, Sharma MC, Shrivastava P, et al. Leigh's syndrome. Indian J Pediatr. 2004 Nov;71(11):1029-33. PMID: 15572826 [PubMed]