First report of co-morbidity of pantothenate kinase-associated neurodegeneration and three types of chronic hemolytic anemias

摘要

Background Pantothenate kinase-associated neurodegeneration (PKAN), sickle cell anemia, and thalassemia are autosomal recessive disorders that can cause iron deposition in tissues during childhood. PKAN is characterized by accumulation of iron in the basal ganglia causing progressive extrapyramidal manifestations. Thalassemia and sickle cell disease can cause iron overload and deposition in tissues, including central nervous system. Presentation of case we herein report the first report of comorbidity of PKAN, β-thalassemia-major, sickle cell and glucose-6-phosphate dehydrogenase deficiency (G6PD) anemias in a 9 years old Saudi female patient who presented with gait disturbance, speech difficulty, and progressive movement disorders of the neck, upper and lower limbs. Conclusion Although extremely rare, β-thalassemia-major, sickle cell and G6PD anemias can be associated with PKAN. It is unknown whether this association is random or due to an unknown factor that may have caused several mutations. Highlights ? This is the first report of comorbidity of PKAN, β-thalassemia-major, sickle cell disease and G6PD deficiency. ? We highlight the pathophysiology of comorbidity of PKAN and chronic hemolytic anemias. ? A missense mutation in homozygous status in PANK2 gene on chromosome 20p13.