Literature DB >> 27229007

Diagnosis and Management of Drooling in Children With Progressive Dystonia: A Case Series of Patients With MEGDEL Syndrome.

Dorian Blommaert1, Karen van Hulst2, Frank J A van den Hoogen3, Corrie E Erasmus4, Saskia B Wortmann5.   

Abstract

Drooling is a common problem in children with progressive dystonia. The authors noted a 58% incidence of drooling in 22/38 children with MEGDEL, a rare neurodegenerative cause of dystonia and report on the clinical course of four patients. Drooling of varying severity and subsequent respiratory problems were treated at the authors' multidisciplinary saliva-control outpatient clinic. One patient improved on antireflux medication, the second after medication with drooling as side effect was changed. Two other patients underwent salivary gland surgery, one of whom significantly improved; the other died shortly after surgery. The heterogeneity of the cases presented shows the need for stepwise and personalized treatment. The authors recommend the following: (1) optimize the treatment of the underlying neurological condition and replace medication that stimulates saliva secretion; (2) treat constipation, scoliosis, and gastroesophageal reflux if there is still a risk of chronic aspiration of saliva; (3) perform more intense/invasive treatment (botulinum toxin, salivary gland surgery).
© The Author(s) 2016.

Entities:  

Keywords:  3-methylglutaconic aciduria; CLPB; SERAC1; botulinum toxin A; saliva control; salivary gland surgery; stepwise approach

Mesh:

Year:  2016        PMID: 27229007     DOI: 10.1177/0883073816650037

Source DB:  PubMed          Journal:  J Child Neurol        ISSN: 0883-0738            Impact factor:   1.987


  4 in total

1.  Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies.

Authors:  Laura A Adang; Omar Sherbini; Laura Ball; Miriam Bloom; Anil Darbari; Hernan Amartino; Donna DiVito; Florian Eichler; Maria Escolar; Sarah H Evans; Ali Fatemi; Jamie Fraser; Leslie Hollowell; Nicole Jaffe; Christopher Joseph; Mary Karpinski; Stephanie Keller; Ryan Maddock; Edna Mancilla; Bruce McClary; Jana Mertz; Kiley Morgart; Thomas Langan; Richard Leventer; Sumit Parikh; Amy Pizzino; Erin Prange; Deborah L Renaud; William Rizzo; Jay Shapiro; Dean Suhr; Teryn Suhr; Davide Tonduti; Jacque Waggoner; Amy Waldman; Nicole I Wolf; Ayelet Zerem; Joshua L Bonkowsky; Genevieve Bernard; Keith van Haren; Adeline Vanderver
Journal:  Mol Genet Metab       Date:  2017-08-20       Impact factor: 4.797

2.  Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.

Authors:  Rebecca Ahrens-Nicklas; Lars Schlotawa; Andrea Ballabio; Nicola Brunetti-Pierri; Mauricio De Castro; Thomas Dierks; Florian Eichler; Can Ficicioglu; Alan Finglas; Jutta Gaertner; Brian Kirmse; Joerg Klepper; Marcus Lee; Amber Olsen; Giancarlo Parenti; Arastoo Vossough; Adeline Vanderver; Laura A Adang
Journal:  Mol Genet Metab       Date:  2018-01-31       Impact factor: 4.797

3.  Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.

Authors:  Roeltje R Maas; Katarzyna Iwanicka-Pronicka; Sema Kalkan Ucar; Bader Alhaddad; Moeenaldeen AlSayed; Mohammed A Al-Owain; Hamad I Al-Zaidan; Shanti Balasubramaniam; Ivo Barić; Dalal K Bubshait; Alberto Burlina; John Christodoulou; Wendy K Chung; Roberto Colombo; Niklas Darin; Peter Freisinger; Maria Teresa Garcia Silva; Stephanie Grunewald; Tobias B Haack; Peter M van Hasselt; Omar Hikmat; Friederike Hörster; Pirjo Isohanni; Khushnooda Ramzan; Reka Kovacs-Nagy; Zita Krumina; Elena Martin-Hernandez; Johannes A Mayr; Patricia McClean; Linda De Meirleir; Karin Naess; Lock H Ngu; Magdalena Pajdowska; Shamima Rahman; Gillian Riordan; Lisa Riley; Benjamin Roeben; Frank Rutsch; Rene Santer; Manuel Schiff; Martine Seders; Silvia Sequeira; Wolfgang Sperl; Christian Staufner; Matthis Synofzik; Robert W Taylor; Joanna Trubicka; Konstantinos Tsiakas; Ozlem Unal; Evangeline Wassmer; Yehani Wedatilake; Toni Wolff; Holger Prokisch; Eva Morava; Ewa Pronicka; Ron A Wevers; Arjan P de Brouwer; Saskia B Wortmann
Journal:  Ann Neurol       Date:  2017-12       Impact factor: 10.422

Review 4.  Mitochondrial Protein Homeostasis and Cardiomyopathy.

Authors:  Emily Wachoski-Dark; Tian Zhao; Aneal Khan; Timothy E Shutt; Steven C Greenway
Journal:  Int J Mol Sci       Date:  2022-03-20       Impact factor: 5.923

  4 in total

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