Are stroke-like events in pyruvate dehydrogenase deficiency ischemic, metabolic, or both in nature?
摘要
The interesting article by Fecarotta et al. reports a 6-year-old female with pyruvate dehydrogenase (PDHC) deficiency due to the variant c.869 A > C in PDHA1, which manifested phenotypically itself with microcephaly, developmental delay, lactic acidosis, global cerebral atrophy, and subependymal gliosis lateral to the left ventricle. At the age of 6, the patient suffered acute-onset right hemiparesis, which was attributed to a stroke-like lesion (SLL) in the left cerebral peduncle. However, there are some arguments against a SLL in the index patient. First, SLLs have not yet been reported in PDHC, Second, the lesion shown in Fig. 1 does not meet the criteria for SLL. Third, the authors themselves speculate the hyperintense DWI lesion in the right globus pallidus may represent hyperperfusion. Before a peduncular DWI hyperintensity can be interpreted as SLL, ischemic stroke must be thoroughly ruled out.