Infantile thiamine deficiency: Redefining the clinical patterns.

Area of Science:

• Pediatrics
• Neurology
• Metabolic Disorders

Background:

• Thiamine deficiency (TD) is a critical condition in infants, often suspected but requiring clear diagnostic criteria.
• Understanding the diverse clinical presentations of infantile TD is essential for timely intervention.

Purpose of the Study:

• To delineate the clinical and laboratory spectrum of infantile thiamine deficiency.
• To identify distinct clinical forms of infantile TD presenting at a single center.

Main Methods:

• Retrospective study of infants with suspected thiamine deficiency.
• Diagnosis confirmed by response to thiamine challenge, the criterion standard.

Main Results:

• 43 infants diagnosed with TD, presenting in three distinct forms: lactic acidosis (n=30), pulmonary arterial hypertension (n=5), and Wernicke's encephalopathy (n=5).
• The lactic acidosis group (youngest, mean age 67 days) presented with irritability, acidotic breathing, shock, and respiratory failure.
• Pulmonary hypertension group (mean age not specified) showed hoarseness, irritability, and prominent pulmonary conus; Wernicke's encephalopathy group (oldest, mean age 190 days) presented with ptosis and encephalopathy.

Conclusions:

• Three clinically distinct forms of infantile TD were identified: acidotic, pulmonary hypertension with aphonia, and Wernicke's encephalopathy with ophthalmic signs.
• Lactic acidosis was a universal finding in the acidotic form.
• Infants with pulmonary hypertension and Wernicke's encephalopathy have specific associated clinical signs aiding diagnosis.