Are stroke-like events in pyruvate dehydrogenase deficiency ischemic, metabolic, or both in nature?

Area of Science:

• Neurology
• Genetics
• Metabolic Disorders

Background:

• Pyruvate dehydrogenase (PDHC) deficiency is a rare genetic disorder affecting cellular metabolism.
• This condition can lead to severe neurological impairment and developmental delays.

Observation:

• A 6-year-old female with PDHC deficiency due to a specific PDHA1 gene variant exhibited microcephaly, developmental delay, lactic acidosis, and cerebral atrophy.
• The patient developed acute right hemiparesis, initially attributed to a stroke-like lesion (SLL) in the left cerebral peduncle.

Findings:

• The article presents arguments against the SLL diagnosis, noting that SLLs are not previously reported in PDHC.
• The observed lesion characteristics and potential hyperperfusion in the globus pallidus challenge the SLL interpretation.
• Ischemic stroke must be rigorously excluded before diagnosing a peduncular DWI hyperintensity as an SLL.

Implications:

• This case highlights the complex and varied neurological presentations of PDHC deficiency.
• It emphasizes the importance of differential diagnosis in patients with suspected stroke-like lesions and underlying metabolic disorders.
• Further research is needed to understand the neuroimaging findings in PDHC deficiency and differentiate them from ischemic events.