Kernicterus by glucose-6-phosphate dehydrogenase deficiency: a case report and review of the literature

Gladys Cossio de Gurrola¹ , Juan José Araúz¹ , Elfilda Durán¹ , Maribel Aguilar-Medina² , Rosalío Ramos-Payán² , Noemí García-Magallanes² , Gerardo Vaca Pacheco³ and Eliakym Arámbula Meraz²

¹Servicio de Genética, Hospital del Niño de Panamá, Panamá

²Laboratorio de Biología Molecular, Doctorado en Biotecnología, Facultad de Ciencias Químico Biológicas, Universidad Autónoma de Sinaloa, Culiacán, Sinaloa, México

³Centro de Investigación Biomédica de Occidente IMSS, Guadalajara, Jalisco, México

author email corresponding author email

Journal of Medical Case Reports 2008, 2:146doi:10.1186/1752-1947-2-146


Published:	6 May 2008

Abstract

Introduction

Glucose-6-phosphate dehydrogenase deficiency is an X-linked recessive disease that causes acute or chronic hemolytic anemia and potentially leads to severe jaundice in response to oxidative agents. This deficiency is the most common human innate error of metabolism, affecting more than 400 million people worldwide.

Case presentation

Here, we present the first documented case of kernicterus in Panama, in a glucose-6-phosphate dehydrogenase-deficient newborn clothed in naphthalene-impregnated garments, resulting in reduced psychomotor development, neurosensory hypoacousia, absence of speech and poor reflex of the pupil to light.

Conclusion

Mutational analysis revealed the glucose-6-phosphate dehydrogenase Mediterranean polymorphic variant, which explained the development of kernicterus after exposition of naphthalene. As the use of naphthalene in stored clothes is a common practice, glucose-6-phosphate dehydrogenase testing in neonatal screening could prevent severe clinical consequences.