Literature DB >> 33643672

Multiple Sulfatase Deficiency (MSD): Review of the Literature and Case Reports of Two Siblings with Dental Caries and Trauma.

Lorna Hirst1, Gehan Abou-Ameira1, Mari-Liis Uudelepp1.   

Abstract

Multiple sulfatase deficiency (MSD) (MIM # 272200) is an extraordinarily rare inborn error of metabolism (IEM). The phenotypic spectrum is largely heterogeneous and attributed to the combined effects of deficiencies in the nine sulfatases currently known to be related to human diseases. Systemic sequelae of MSD are vast and multisystemic, primarily encompassing developmental delay and neurological, cardiopulmonary, dermatological, gastroenterological, and skeletal manifestations. The dental phenotype is scarcely described in the literature due to a paucity of cases. Dental treatment under local and general anaesthesia mandates an integrated multidisciplinary approach to safeguard systemic health and optimise outcomes. This paper presents two siblings with multiple sulfatase deficiency who presented to the Paediatric Dental Department at Great Ormond Street Hospital, requiring comprehensive care under general anaesthesia for dental caries and trauma.
Copyright © 2021 Lorna Hirst et al.

Entities:  

Year:  2021        PMID: 33643672      PMCID: PMC7902125          DOI: 10.1155/2021/6611548

Source DB:  PubMed          Journal:  Case Rep Pediatr


  9 in total

1.  Dental findings and oral health status in patients with mucopolysaccharidosis: a case series.

Authors:  Lívia Azeredo Alves Antunes; Ana Paula Barreto Nogueira; Glória Fernanda Castro; Márcia Gonçalves Ribeiro; Ivete Pomarico Ribeiro de Souza
Journal:  Acta Odontol Scand       Date:  2012-03-01       Impact factor: 2.331

Review 2.  Anesthetic Management of Patients With Inborn Errors of Metabolism.

Authors:  Benjamin Kloesel; Robert S Holzman
Journal:  Anesth Analg       Date:  2017-09       Impact factor: 5.108

3.  Multiple Sulfatase Deficiency: A Case Series With a Novel Mutation.

Authors:  Leen Hijazi; Amna Kashgari; Majid Alfadhel
Journal:  J Child Neurol       Date:  2018-08-20       Impact factor: 1.987

4.  Case of multiple sulfatase deficiency and ocular albinism: a diagnostic odyssey.

Authors:  Chitra Prasad; C Anthony Rupar; Craig Campbell; Melanie Napier; David Ramsay; K Y Tay; Sapna Sharan; Asuri N Prasad
Journal:  Can J Neurol Sci       Date:  2014-09       Impact factor: 2.104

5.  Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency.

Authors:  Lars Schlotawa; Karthikeyan Radhakrishnan; Matthias Baumgartner; Regula Schmid; Bernhard Schmidt; Thomas Dierks; Jutta Gärtner
Journal:  Eur J Hum Genet       Date:  2013-01-16       Impact factor: 4.246

6.  The Effect of Multiple Sulfatase Deficiency (MSD) on Dental Development: Can We Use the Teeth as an Early Diagnostic Tool?

Authors:  Uri Zilberman; Haim Bibi
Journal:  JIMD Rep       Date:  2016-06-26

7.  Difficulty in recognizing multiple sulfatase deficiency in an infant.

Authors:  Roberto P Santos; Joe J Hoo
Journal:  Pediatrics       Date:  2006-03       Impact factor: 7.124

8.  Multiple sulfatase deficiency: A case series of four children.

Authors:  Faruk Incecik; Mehmet N Ozbek; Serdal Gungor; Stefano Pepe; Ozlem M Herguner; Neslihan Onenli Mungan; Sabiha Gungor; Sakir Altunbasak
Journal:  Ann Indian Acad Neurol       Date:  2013-10       Impact factor: 1.383

9.  Multiple sulfatase deficiency with neonatal manifestation.

Authors:  Livia Garavelli; Lucia Santoro; Alexandra Iori; Giancarlo Gargano; Silvia Braibanti; Simona Pedori; Nives Melli; Daniele Frattini; Lucia Zampini; Tiziana Galeazzi; Lucia Padella; Stefano Pepe; Anita Wischmeijer; Simonetta Rosato; Ivan Ivanovski; Lorenzo Iughetti; Chiara Gelmini; Sergio Bernasconi; Andrea Superti-Furga; Andrea Ballabio; Orazio Gabrielli
Journal:  Ital J Pediatr       Date:  2014-12-17       Impact factor: 2.638

  9 in total

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