Shaimaa Abdelsattar Mohammad1, Heba Salah Abdelkhalek2, Khaled A Ahmed3, Osama K Zaki2. 1. Department of Radiodiagnosis, Faculty of Medicine, Ain-Shams University, 9 Ain-Shams university staff buildings, Lotfi Elsayed St., Cairo, Egypt, 11657. shaimaa96@hotmail.com. 2. Medical Genetics Unit, Pediatric Department, Faculty of Medicine, Ain-Shams University, Cairo, Egypt. 3. Department of Radiodiagnosis, Faculty of Medicine, Ain-Shams University, 9 Ain-Shams university staff buildings, Lotfi Elsayed St., Cairo, Egypt, 11657.
Abstract
BACKGROUND: Glutaric aciduria type 1 is a rare neurometabolic disease with high morbidity. OBJECTIVE: To describe the MR imaging abnormalities in glutaric aciduria type 1 and to identify any association between the clinical and imaging features. MATERIALS AND METHODS: MRI scans of 29 children (mean age: 16.9 months) with confirmed diagnosis of glutaric aciduria type 1 were retrospectively reviewed. Gray matter and white matter scores were calculated based on a previously published pattern-recognition approach of assessing leukoencephalopathies. Hippocampal formation and opercular topography were assessed in relation to the known embryological basis. MRI scores were correlated with morbidity score. RESULTS: The most consistent MRI abnormality was widened operculum with dilatation of the subarachnoid spaces surrounding underdeveloped frontotemporal lobes. Incomplete hippocampal inversion was also seen. The globus pallidus was the most frequently involved gray matter structure (86%). In addition to the central tegmental tract, white matter abnormalities preferentially involved the central and periventricular regions. The morbidity score correlated with the gray matter abnormality score (P = 0.004). Patients with dystonia had higher gray matter and morbidity scores. CONCLUSION: Morbidity is significantly correlated with abnormality of gray matter, rather than white matter, whether secondary to acute encephalopathic crisis or insidious onset disease.
BACKGROUND:Glutaric aciduria type 1 is a rare neurometabolic disease with high morbidity. OBJECTIVE: To describe the MR imaging abnormalities in glutaric aciduria type 1 and to identify any association between the clinical and imaging features. MATERIALS AND METHODS: MRI scans of 29 children (mean age: 16.9 months) with confirmed diagnosis of glutaric aciduria type 1 were retrospectively reviewed. Gray matter and white matter scores were calculated based on a previously published pattern-recognition approach of assessing leukoencephalopathies. Hippocampal formation and opercular topography were assessed in relation to the known embryological basis. MRI scores were correlated with morbidity score. RESULTS: The most consistent MRI abnormality was widened operculum with dilatation of the subarachnoid spaces surrounding underdeveloped frontotemporal lobes. Incomplete hippocampal inversion was also seen. The globus pallidus was the most frequently involved gray matter structure (86%). In addition to the central tegmental tract, white matter abnormalities preferentially involved the central and periventricular regions. The morbidity score correlated with the gray matter abnormality score (P = 0.004). Patients with dystonia had higher gray matter and morbidity scores. CONCLUSION: Morbidity is significantly correlated with abnormality of gray matter, rather than white matter, whether secondary to acute encephalopathic crisis or insidious onset disease.
Entities:
Keywords:
Central tegmental tract; Child; Corpus striatum; Glutaric aciduria type 1; Leukodystrophy; MRI; Morbidity
Authors: Stefan Kölker; Sven F Garbade; Cheryl R Greenberg; James V Leonard; Jean-Marie Saudubray; Antonia Ribes; H Serap Kalkanoglu; Allan M Lund; Begoña Merinero; Moacir Wajner; Mónica Troncoso; Monique Williams; John H Walter; Jaume Campistol; Milagros Martí-Herrero; Melissa Caswill; Alberto B Burlina; Florian Lagler; Esther M Maier; Bernd Schwahn; Aysegul Tokatli; Ali Dursun; Turgay Coskun; Ronald A Chalmers; David M Koeller; Johannes Zschocke; Ernst Christensen; Peter Burgard; Georg F Hoffmann Journal: Pediatr Res Date: 2006-04-26 Impact factor: 3.756
Authors: Inga Harting; Eva Neumaier-Probst; Angelika Seitz; Esther M Maier; Birgit Assmann; Ivo Baric; Monica Troncoso; Chris Mühlhausen; Johannes Zschocke; Nikolas P S Boy; Georg F Hoffmann; Sven F Garbade; Stefan Kölker Journal: Brain Date: 2009-05-11 Impact factor: 13.501
Authors: Stefan Kölker; Ernst Christensen; James V Leonard; Cheryl R Greenberg; Avihu Boneh; Alberto B Burlina; Alessandro P Burlina; Marjorie Dixon; Marinus Duran; Angels García Cazorla; Stephen I Goodman; David M Koeller; Mårten Kyllerman; Chris Mühlhausen; Edith Müller; Jürgen G Okun; Bridget Wilcken; Georg F Hoffmann; Peter Burgard Journal: J Inherit Metab Dis Date: 2011-03-23 Impact factor: 4.982
Authors: Diane Demailly; Christine Vianey-Saban; Cécile Acquaviva; Victoria Gonzalez; Isabel De Antonio Rubio; Fabienne Cyprien; Thomas Roujeau; Adria Masoliver; Nicolas Leboucq; Philippe Coubes; Laura Cif Journal: Mov Disord Clin Pract Date: 2018-07-19
Authors: Ahmed Moseilhy; Magdy M Hassan; Heba S A El Abd; Shaimaa A Mohammad; Rajaa El Bekay; Ussama M Abdel-Motal; Allal Ouhtit; Osama K Zaki; Hatem Zayed Journal: Metab Brain Dis Date: 2016-08-01 Impact factor: 3.584
Authors: Nikolas Boy; Chris Mühlhausen; Esther M Maier; Jana Heringer; Birgit Assmann; Peter Burgard; Marjorie Dixon; Sandra Fleissner; Cheryl R Greenberg; Inga Harting; Georg F Hoffmann; Daniela Karall; David M Koeller; Michael B Krawinkel; Jürgen G Okun; Thomas Opladen; Roland Posset; Katja Sahm; Johannes Zschocke; Stefan Kölker Journal: J Inherit Metab Dis Date: 2016-11-16 Impact factor: 4.982
Authors: Ahmed Mosaeilhy; Magdy M Mohamed; George Priya Doss C; Heba S A El Abd; Radwa Gamal; Osama K Zaki; Hatem Zayed Journal: Metab Brain Dis Date: 2017-04-07 Impact factor: 3.584