Abstract
Introduction: Friedreich Ataxia (FA) is an autosomal recessive disorder which involves expansion of the GAA codon found within the frataxin gene on chromosome 9. The frataxin protein ensures proper functioning of mitochondria and without it, the mitochondria develop accumulation of iron and reactive oxygen species that damage cell components. This disease is mainly diagnosed using a thorough history and physical but can be confirmed through genetic testing. According to the National Institute of Neurological Disorders and Stroke, FA affects about 1 in 50,000 people in the United States and can be inherited by male and female children. There is no cure to this disease, and current treatments aim to reduce the severity of symptoms in individuals with FA. These symptoms, which commonly appear after puberty, include ataxic gait, speech problems, scoliosis, neurological deficits, diabetic disease, and heart disease. The symptoms progress slowly, and cardiac complications comprise about 60% of death in individuals with FA.
Case Description: We present the case of a 10-year-old male with a history of Friedreich Ataxia and hypertrophic cardiomegaly who complained of 3 weeks of multiple non-painful, non-pruritic, flesh-colored lesions on his bilateral knees which transformed into bruises on his bilateral shins 2 days prior. The patient described the shin lesions as painful, hard, erythematous, and locally pruritic, for which he was given OTC cream and levocetirizine with no improvement.
He was enrolled in a double-blind randomized study two weeks prior to seeing us for a medication named Vatiquinone. He takes this medication 3 times a day for his Friedreich Ataxia. He is also taking atenolol 50 mg bid and has a surgical history of circumcision. His vitals were within normal limits. On physical exam, he had bilateral bruisings on the pretibial area of the lower legs, a maculopapular rash on both arms, scarred lesions on the bilateral knees, and ulcerative lesions on the buccal mucosa. He was referred to pediatric dermatology due to suspected diagnosis of erythema nodosum secondary to Vatiquinone use.
Discussion: This case illustrates one of the side effects of the novel experimental medication Vatiquinone on a patient with Friedreich Ataxia. Understanding the possible side effects of medications can aid patients in differentiating between symptoms related to their disease versus symptoms related to the medications they are taking. Knowing this may increase medication compliance as well as giving patients autonomy in picking their medication regimens. As stated above, there is no cure for Friedreich Ataxia, and this case study aims to raise awareness for individuals with FA that are currently on or will be prescribed Vatiquinone.
