Mothballs, status dystonicus and critical care: an unusual case of G6PD deficiency

Abstract

Glucose 6 Phosphate Dehydrogenase (G6PD) is a critical enzyme in the pentose phosphate pathway, a pathway that acts to provide reducing energy to cells. G6PD deficiencies are X-linked inherited disorders, in which the G6PD on red blood cells (RBCs) is defective. This case report will focus on an G6PD deficient individual of Thai descent, Sill, who was exposed to moth balls at an early age. The damage left him with severe dystonic Cerebral Palsy (CP), a permanent movement disorder, causing him to constantly display asymmetric posturing and opisthotonic movements. This article follows Sill through his admission, initially for GJ Tube re-insertion, then for hypoxemia. Sill is seen by several services, who attempt various forms of medication and procedures. This case ends with the insertion of an Intrathecal Baclofen pump; a potential remedy for Sill's current symptoms. Lastly, we discuss the implications of screening for conditions that are typically benign, such as G6PD deficiencies, but can have lethal outcomes.