INFANTILE BERIBERI PRESENTING AS LEIGH'S SYNDROME

Abstract

A six month old male infant presented with a left 6th nerve palsy and increasing frequency of emesis. For 3-1/2 months his intake had consisted solely of a skim milk product containing <10 μ g/L of thiamine. Initial electrolytes, blood gas, LP, and CT scan were normal. He showed poor swallowing, intermittent staring and jerking, hypothermia and a progressive hyponatremia culminating in a seizure and respiratory arrest. Despite intubation, electrolyte correction, antibiotics and steroids, he developed total opthalmoplegia, hypotonia, mouthing movements, lethargy, apnea and bradycardia. A CT scan showed bilateral putaminal luscencies but no brainstem abnormalities. Serum glutamic acid, glutamine, alanine, and leucine were mildly elevated (4 days IV glucose only). Normal lab: cortisol, 17-OH progesterone, DHEA, uric acid, bicarb, liver functions, NH4, T4, Ca, P, Mg, Cr, urine porphyria studies. Thiamine supplementation resulted in rapid clinical improvement. CT scan three months later revealed almost complete resolution of the putaminal luscencies. One year later, mild gross motor delays remain; growth is normal; no seizures have occured.