Kernicterus by glucose-6-phosphate dehydrogenase deficiency: a case report and review of the literature
| Autor: | Noemí García-Magallanes, Maribel Aguilar-Medina, Juan José Araúz, Gladys Cossio de Gurrola, Eliakym Arámbula Meraz, Elfilda Durán, Gerardo Vaca Pacheco, Rosalío Ramos-Payán |
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| Rok vydání: | 2008 |
| Předmět: |
Medicine(all)
Pediatrics medicine.medical_specialty business.industry lcsh:R lcsh:Medicine Physiology Case Report Dehydrogenase General Medicine Disease Jaundice medicine.disease Dehydrogenase deficiency Mutational analysis Chronic hemolytic anemia medicine Kernicterus medicine.symptom business Glucose-6-phosphate dehydrogenase deficiency |
| Zdroj: | Journal of Medical Case Reports, Vol 2, Iss 1, p 146 (2008) Journal of Medical Case Reports |
| ISSN: | 1752-1947 |
| DOI: | 10.1186/1752-1947-2-146 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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