Thiamine Responsive Acute Infantile Encephalopathy

Area of Science:

• Pediatric Neurology
• Nutritional Neuroscience

Background:

• Acute non-infectious encephalopathy is a critical condition in infants, often presenting with multisystem involvement.
• Ophthalmologic and respiratory abnormalities are common, alongside neurological findings like basal ganglia lesions.
• The role of thiamine deficiency in this condition requires further elucidation.

Purpose of the Study:

• To describe clinical and investigational findings in infants with acute non-infectious encephalopathy.
• To determine the effect of thiamine treatment on mortality in this patient group.

Main Methods:

• Retrospective study of 37 infants admitted between October 2019 and March 2021.
• Analysis of clinical data, neuroimaging (noting bilateral basal ganglia involvement), and biochemical markers.
• Comparison of mortality rates between patients who received thiamine and those who did not.

Main Results:

• The median age of patients was 4 months, with a male predominance (62.2%).
• 75% showed bilateral basal ganglia involvement on neuroimaging; biochemical thiamine deficiency was confirmed in one infant.
• None of the 11 patients receiving thiamine died, versus 20 of 26 (76.9% case fatality rate) not receiving thiamine. Thiamine use was significantly associated with reduced mortality (aOR 0.046, p=0.039).

Conclusions:

• Thiamine treatment is associated with a significant decrease in mortality for infants with acute non-infectious encephalopathy.
• This association is particularly pronounced in cases with bilateral basal ganglia involvement.
• Early thiamine administration may be a crucial intervention for improving outcomes in these patients.