期刊名称：Nascer e Crescer - Revista do Hospital de Crianças Maria Pia
印刷版ISSN：0872-0754
出版年度：2021
卷号：30
期号：1
页码：44-47
DOI：10.25753/BirthGrowthMJ.v30.i1.18753
语种：English
出版社：Hospital de Crianças Maria Pia - Centro Hospitalar do Porto
摘要：Introduction: Classical homocystinuria (HCU) is an autosomal recessive disorder caused by a deficiency in the cystathionine beta-synthase enzyme and associated with a high probability of vascular complications. Herein is presented the case of an adolescent diagnosed with HCU during cerebral venous sinus thrombosis (CVST) study. Case Report: A 14-year-old girl presented with thrombophilia screening tests suggestive of HCU during CVST study. After referral to an Inherited Metabolic Diseases Unit, she started supplementation with pyridoxine, folic acid, vitamin B12, betaine anhydrous, and cysteine and was advised to restrict natural proteins and methionine from diet. Genetic analysis revealed a homozygous CBS mutation (c.572C>T (p.T191M) with c.699C>T (p.Y233Y) polymorphism. Discussion: In adolescents born before 2004 (year of implementation of the Portuguese newborn screening program), HCU should be considered when studying hypercoagulability syndromes, as it is a treatable condition and treatment can prevent major morbidity and mortality causes.
