دورية أكاديمية
أعرض في EDS

Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation.

التفاصيل البيبلوغرافية
العنوان: Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation.
المؤلفون: Honjo RS; Unidade de Genética do Instituto da Criança - Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Av. Dr. Enéas Carvalho de Aguiar, 647, São Paulo, CEP 05403-000, Brazil. rachel.honjo@hc.fm.usp.br., Vaca ECN; Unidade de Genética do Instituto da Criança - Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Av. Dr. Enéas Carvalho de Aguiar, 647, São Paulo, CEP 05403-000, Brazil., Leal GN; Setor de Ecocardiografia do SADT do Instituto da Criança - Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil., Abellan DM; Departamento de Pediatria - Instituto da Criança - Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil., Ikari NM; Unidade de Cardiologia Pediátrica do Incor - Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil., Jatene MB; Unidade Cirúrgica Infantil do Instituto do Coração - Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil., Martins AM; Departamento de Pediatria - Centro de Referência em Erros Inatos do Metabolismo, Universidade Federal de São Paulo, São Paulo, Brazil., Kim CA; Unidade de Genética do Instituto da Criança - Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Av. Dr. Enéas Carvalho de Aguiar, 647, São Paulo, CEP 05403-000, Brazil.
المصدر: BMC medical genetics [BMC Med Genet] 2020 Feb 19; Vol. 21 (1), pp. 37. Date of Electronic Publication: 2020 Feb 19.
نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med Genet Subsets: MEDLINE
أسماء مطبوعة: Original Publication: London : BioMed Central, [2000-
مواضيع طبية MeSH: Heart/*physiopathology , Heart Failure/*genetics , Mucopolysaccharidosis VI/*genetics , N-Acetylgalactosamine-4-Sulfatase/*genetics, Ascites ; Brazil/epidemiology ; Disease Progression ; Heart/diagnostic imaging ; Heart Failure/diagnosis ; Heart Failure/diagnostic imaging ; Heart Failure/physiopathology ; Humans ; Infant ; Male ; Mucopolysaccharidosis VI/diagnostic imaging ; Mucopolysaccharidosis VI/physiopathology ; Mutation ; Phenotype
مستخلص: Background: The Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome (OMIM 253200) is an autosomal recessive lysosomal disorder, caused by the deficiency of the enzyme N-acetylgalactosamine 4-sulfatase (also known as arylsulfatase B) due to mutations of the ARSB gene. Cardiologic features are well recognized, and are always present in MPS VI patients. Generally, the onset and the progression of the cardiologic symptoms are insidious, and just a few patients have developed a rapidly progressive disease. Cardiac involvement in MPS VI is a common and progressive feature. For MPS patients, cardiac evaluations are recommended every 1 to 2 years, including blood pressure measurement, electrocardiography and echocardiography. However, congestive heart failure and valvular surgical repair are not frequently seen, and if so, they are performed in adults. Here we report on an atypical MPS VI case with ascites fetalis and a rapidly progressive cardiac disease.
Case Presentation: A 6-month-old Brazilian male, only child of a Brazilian healthy non-consanguineous couple. During pregnancy, second trimester ultrasonography observed fetal ascites and bilateral hydrocele. Physical exam at 6 months-old revealed a typical gibbus deformity and MPS was suspected. Biochemical investigation revealed a diagnosis of MPS type VI, confirmed by molecular test. Baseline echocardiogram revealed discrete tricuspid regurgitation and a thickened mitral valve with posterior leaflet prolapse, causing moderate to severe regurgitation. The patient evolved with mitral insufficiency and congestive heart failure, eventually requiring surgical repair by the first year of age.
Conclusions: We report the first case of MPS VI whose manifestations started in the prenatal period with fetal ascites, with severe cardiac valvular disease that eventually required early surgical repair. Moreover, in MPS with neonatal presentation, including fetal hydrops, besides MPS I, IVA and VII, clinicians should include MPS VI in the differential diagnosis.
References: J Inherit Metab Dis. 2011 Dec;34(6):1183-97. (PMID: 21744090)
Am J Cardiol. 1968 Jul;22(1):133-6. (PMID: 4232341)
Pediatr Cardiol. 1983 Jan-Mar;4(1):61-2. (PMID: 6405371)
Cardiol Young. 2014 Apr;24(2):229-35. (PMID: 23458163)
J Biol Chem. 1991 Nov 15;266(32):21386-91. (PMID: 1718978)
Orphanet J Rare Dis. 2019 May 29;14(1):118. (PMID: 31142378)
Mol Genet Metab. 2011 Dec;104(4):695-9. (PMID: 21917494)
Am J Med Genet A. 2013 Dec;161A(12):3078-86. (PMID: 24039125)
Pediatrics. 2007 Aug;120(2):405-18. (PMID: 17671068)
J Inherit Metab Dis. 2014 Mar;37(2):269-76. (PMID: 24062198)
Clin Genet. 2010 May;77(5):492-8. (PMID: 19968667)
Nihon Masu Sukuriningu Gakkai Shi. 2014;24:19-37. (PMID: 25620850)
Am J Obstet Gynecol. 2015 Mar;212(3):281-90. (PMID: 25305402)
J Pediatr. 1992 Feb;120(2 Pt 1):269-72. (PMID: 1735826)
Eur J Pediatr. 2009 Oct;168(10):1203-6. (PMID: 19130082)
Acta Cardiol. 2005 Feb;60(1):51-3. (PMID: 15779852)
Clin Cardiol. 1987 Jun;10(6):362-4. (PMID: 3109796)
Orphanet J Rare Dis. 2010 Apr 12;5:5. (PMID: 20385007)
Am J Med Genet A. 2013 Jun;161A(6):1291-9. (PMID: 23633437)
Eur J Pediatr. 2019 May;178(5):739-753. (PMID: 30809705)
Am J Pathol. 1948 Jul;24(4):855-87. (PMID: 18874415)
Postgrad Med J. 1992 Apr;68(798):287-8. (PMID: 1409196)
Mol Genet Metab. 2007 Sep-Oct;92(1-2):122-30. (PMID: 17643332)
Ann Intern Med. 1980 Apr;92(4):496-8. (PMID: 6767429)
Clin Genet. 2004 Sep;66(3):208-13. (PMID: 15324318)
World J Pediatr Congenit Heart Surg. 2017 Jan 1;:2150135117690105. (PMID: 28421916)
J Inherit Metab Dis. 2016 Sep;39(5):611-624. (PMID: 27393412)
Cardiol Young. 2009 Apr;19(2):170-8. (PMID: 19195419)
Ann Thorac Surg. 2016 Jul;102(1):e23-5. (PMID: 27343522)
Circulation. 1992 Jan;85(1):188-95. (PMID: 1728449)
Hum Mutat. 2018 Dec;39(12):1788-1802. (PMID: 30118150)
Orphanet J Rare Dis. 2012 Nov 08;7:86. (PMID: 23137060)
Pediatr Cardiol. 1993 Mar;14(2):130-2. (PMID: 8469632)
Presse Med. 1963 Sep 25;71:1849-52. (PMID: 14091597)
Mol Genet Metab. 2015 May;115(1):41-7. (PMID: 25892708)
فهرسة مساهمة: Keywords: Fetal ascites; Inborn error of metabolism; Lysosomal disorder; Mucopolysaccharidosis; Mucopolysaccharidosis type VI; Valvular disease
المشرفين على المادة: EC 3.1.6.12 (N-Acetylgalactosamine-4-Sulfatase)
EC 3.1.6.12. (ARSB protein, human)
تواريخ الأحداث: Date Created: 20200221 Date Completed: 20200303 Latest Revision: 20200303
رمز التحديث: 20221213
مُعرف محوري في PubMed: PMC7031867
DOI: 10.1186/s12881-020-0972-y
PMID: 32075597
قاعدة البيانات: MEDLINE
الوصف
تدمد:1471-2350
DOI:10.1186/s12881-020-0972-y