Fatima Amir1,2, Carrie Atzinger1,2, Keith Massey3, John Greinwald4, Lisa L Hunter5, Elizabeth Ulm2, Margaret Kettler6. 1. College of Medicine, University of Cincinnati, Cincinnati, OH, USA. 2. Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA. 3. Cure RTD Foundation, Calgary, Alberta, Canada. 4. Division of Pediatric Otolaryngology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA. 5. Cincinnati Children's Hospital Medical Center, Center for Professional Excel Rsch & EBP, Cincinnati, OH, USA. 6. Division of Audiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Abstract
PURPOSE: To identify symptoms and health care interactions with patients with riboflavin transporter deficiency (RTD) type 2 prior to diagnosis. METHODS: Parents of children with riboflavin transporter deficiency type 2 (n = 10) were interviewed to collect data on the patient's clinical journey. RESULTS: The average diagnostic delay was 27.6 months. Neurologists were the most commonly visited clinician (90%). Common symptoms during the first year of the patient's clinical journey included abnormal gait and/or ataxia (70%), nystagmus (50%), and upper body muscle weakness (40%). Prior to diagnosis, optic atrophy, sleep apnea, breath-holding spells, and dysphagia were commonly observed. Hearing loss was only reported in 40% of subjects prior to diagnosis. Riboflavin responsive megaloblastic anemia is reported for the first time. Mitochondrial disease was the most common suspected diagnosis (30%). CONCLUSION: Despite clinical variability, common early symptoms of riboflavin transporter deficiency type 2 exist that can better allow clinicians to more rapidly identify riboflavin transporter deficiency type 2.
PURPOSE: To identify symptoms and health care interactions with patients with riboflavin transporter deficiency (RTD) type 2 prior to diagnosis. METHODS: Parents of children with riboflavin transporter deficiency type 2 (n = 10) were interviewed to collect data on the patient's clinical journey. RESULTS: The average diagnostic delay was 27.6 months. Neurologists were the most commonly visited clinician (90%). Common symptoms during the first year of the patient's clinical journey included abnormal gait and/or ataxia (70%), nystagmus (50%), and upper body muscle weakness (40%). Prior to diagnosis, optic atrophy, sleep apnea, breath-holding spells, and dysphagia were commonly observed. Hearing loss was only reported in 40% of subjects prior to diagnosis. Riboflavin responsive megaloblastic anemia is reported for the first time. Mitochondrial disease was the most common suspected diagnosis (30%). CONCLUSION: Despite clinical variability, common early symptoms of riboflavin transporter deficiency type 2 exist that can better allow clinicians to more rapidly identify riboflavin transporter deficiency type 2.
Authors: Piero Leone; Maria Tolomeo; Elisabetta Piancone; Pier Giorgio Puzzovio; Carla De Giorgi; Cesare Indiveri; Elia Di Schiavi; Maria Barile Journal: IUBMB Life Date: 2021-09-24 Impact factor: 4.709