Paul J Benke1, Michael Duchowny2, Dianalee McKnight3. 1. Genetics Division, Joe DiMaggio Children's Hospital, and Charles E. Schmidt College of Medicine, Hollywood, Florida. Electronic address: pbenke@mhs.net. 2. Neurology Division, Nicklaus Children's Hospital, Miami, Florida. 3. GeneDx, Gaithersburg, Maryland.
Abstract
BACKGROUND: Patients with autism spectrum disorder and developmental delay or encephalopathy rarely demonstrate no or negligible hair and nail growth, suggesting a biotin-responsive clinical disorder. METHODS: A ten-year-old girl presented with features of autism spectrum disorder, isolated headaches, and episodes of headaches and limb shaking. Her medical history revealed that her hair and nails did not grow. Administration of biotin restored her nail and hair growth and improved intellectual ability and school performance. Her episodes of headaches, single limb shaking, and loss of consciousness responded to administration of acetazolamide, and her school performance and social skills further improved. RESULTS: A de novo c.1091 C > T, p.T364M pathogenic variant was found in the ATP1A2 gene by whole-exome sequencing, but a genetic etiology in the biotin-responsive metabolic pathways was not identified. CONCLUSIONS: The combination of biotin and acetazolamide treatment was successful in restoring normal mental function and school performance. Poor or no clinical nail and hair growth in any child with a developmental delay-autism spectrum disorder presentation should be considered as evidence for a biotin-responsive genetic disorder even when exome testing is negative.
BACKGROUND:Patients with autism spectrum disorder and developmental delay or encephalopathy rarely demonstrate no or negligible hair and nail growth, suggesting a biotin-responsive clinical disorder. METHODS: A ten-year-old girl presented with features of autism spectrum disorder, isolated headaches, and episodes of headaches and limb shaking. Her medical history revealed that her hair and nails did not grow. Administration of biotin restored her nail and hair growth and improved intellectual ability and school performance. Her episodes of headaches, single limb shaking, and loss of consciousness responded to administration of acetazolamide, and her school performance and social skills further improved. RESULTS: A de novo c.1091 C > T, p.T364M pathogenic variant was found in the ATP1A2 gene by whole-exome sequencing, but a genetic etiology in the biotin-responsive metabolic pathways was not identified. CONCLUSIONS: The combination of biotin and acetazolamide treatment was successful in restoring normal mental function and school performance. Poor or no clinical nail and hair growth in any child with a developmental delay-autism spectrum disorder presentation should be considered as evidence for a biotin-responsive genetic disorder even when exome testing is negative.
Authors: Mennatallah A Ali; Hala A Hafez; Maher A Kamel; Heba I Ghamry; Mustafa Shukry; Mohamed A Farag Journal: Nutrients Date: 2022-09-22 Impact factor: 6.706
Authors: Kazim Sahin; Cemal Orhan; Serdar Karatoprak; Mehmet Tuzcu; Patrick Brice Defo Deeh; Ibrahim Hanifi Ozercan; Nurhan Sahin; Merve Yilmaz Bozoglan; Sarah Sylla; Sara Perez Ojalvo; James R Komorowski Journal: Nutrients Date: 2022-03-17 Impact factor: 5.717