ESPE Abstracts

Introduction: Gayet-Wernicke encephalopathy (GWE) is a disorder characterized by acute onset confusion, nystagmus, partial ophthalmoplegia, and ataxia due to thiamine deficiency. The diagnosis is mainly clinical. The disorder may resolve with treatment, persist, or degenerate into Korsakoff psychosis.

Observation: A 5-year-old boy, born at full term, referred to our specialist consultation for growth retardation. The clinical examination revealed severe failure to thrive. Furthermore, we noted a divergent strabismus, exophthalmos of the left eye with ptosis. The ophthalmological examination showed paralysis of the adduction of the left eye with limitation of elevation. The fundus was normal. Cerebral angio-MRI showed an appearance suggestive of GWE. Furthermore, the IGF1 level was low with a GH peak at 7 ng/ml during stimulation tests and the bone age corresponded to 2 years.

Discussion: The diagnosis of hypovitaminosis B1 is confirmed by the spectacular and favorable response to thiamine with disappearance of the signs of deficiency. The little one was immediately put on parenteral vitamin B1 as replacement therapy as well as multiple water-soluble vitamins with dietary intake of thiamine. Furthermore, his GH deficiency was treated according to consensus recommendations.

Conclusion: GWE is an exceptional pathology in pediatrics. Early diagnosis as well as urgent treatment are necessary to restore this deficiency.