Literature DB >> 10680820

Acute hydrocephalus in nonketotic hyperglycinemia.

J L Van Hove1, P S Kishnani, P Demaerel, S G Kahler, C Miller, J Jaeken, S L Rutledge.   

Abstract

We present four patients with typical neonatal onset non-ketotic hyperglycinemia (NKH) who developed hydrocephalus requiring shunting in early infancy. Brain imaging revealed acute hydrocephalus, a megacisterna magna or posterior fossa cyst, pronounced atrophy of the white matter, and an extremely thin corpus callosum in all. The three older patients had profound developmental disabilities. This suggests that the development of hydrocephalus in NKH is an additional poor prognostic sign.

Entities:  

Mesh：

Year:  2000        PMID： 10680820     DOI： 10.1212/wnl.54.3.754

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  14 in total

Review 1.  The corpus callosum: white matter or terra incognita.

Authors:  A Fitsiori; D Nguyen; A Karentzos; J Delavelle; M I Vargas
Journal:  Br J Radiol       Date:  2011-01       Impact factor: 3.039

2.  Benzoate treatment and the glycine index in nonketotic hyperglycinaemia.

Authors:  J L K Van Hove; K Vande Kerckhove; J B Hennermann; V Mahieu; P Declercq; S Mertens; M De Becker; P S Kishnani; J Jaeken
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

3.  Prediction of long-term outcome in glycine encephalopathy: a clinical survey.

Authors:  Julia B Hennermann; Jeanne-Marie Berger; Ulrike Grieben; Gunter Scharer; Johan L K Van Hove
Journal:  J Inherit Metab Dis       Date:  2011-10-15       Impact factor: 4.982

4.  Neonatal nonketotic hyperglycinemia.

Authors:  Rahul P Bhamkar; Prisca Colaco
Journal:  Indian J Pediatr       Date:  2007-12       Impact factor: 1.967

5.  Diffusion-weighted MR imaging in neonatal nonketotic hyperglycinemia.

Authors:  Pek-Lan Khong; Barbara C C Lam; Brian H Y Chung; Ka-Yin Wong; Gaik-Cheng Ooi
Journal:  AJNR Am J Neuroradiol       Date:  2003 Jun-Jul       Impact factor: 3.825

6.  Glycine decarboxylase deficiency causes neural tube defects and features of non-ketotic hyperglycinemia in mice.

Authors:  Yun Jin Pai; Kit-Yi Leung; Dawn Savery; Tim Hutchin; Helen Prunty; Simon Heales; Margaret E Brosnan; John T Brosnan; Andrew J Copp; Nicholas D E Greene
Journal:  Nat Commun       Date:  2015-03-04       Impact factor: 14.919

7.  Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.

Authors:  Michael A Swanson; Curtis R Coughlin; Gunter H Scharer; Heather J Szerlong; Kendra J Bjoraker; Elaine B Spector; Geralyn Creadon-Swindell; Vincent Mahieu; Gert Matthijs; Julia B Hennermann; Derek A Applegarth; Jennifer R Toone; Suhong Tong; Kristina Williams; Johan L K Van Hove
Journal:  Ann Neurol       Date:  2015-08-10       Impact factor: 10.422

8.  Use of high-frequency ultrasound to study the prenatal development of cranial neural tube defects and hydrocephalus in Gldc-deficient mice.

Authors:  Maria C Autuori; Yun J Pai; Daniel J Stuckey; Dawn Savery; Anna M Marconi; Valentina Massa; Mark F Lythgoe; Andrew J Copp; Anna L David; Nicholas D E Greene
Journal:  Prenat Diagn       Date:  2017-02-17       Impact factor: 3.050

9.  Cranial ultrasound in metabolic disorders presenting in the neonatal period: characteristic features and comparison with MR imaging.

Authors:  L M Leijser; L S de Vries; M A Rutherford; A Y Manzur; F Groenendaal; T J de Koning; M van der Heide-Jalving; F M Cowan
Journal:  AJNR Am J Neuroradiol       Date:  2007-08       Impact factor: 3.825

10.  Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia.

Authors:  Harun Bayrak; Yılmaz Yıldız; Asburçe Olgaç; Çiğdem Seher Kasapkara; Aynur Küçükcongar; Ayşegül Zenciroğlu; Deniz Yüksel; Serdar Ceylaner; Mustafa Kılıç
Journal:  Metab Brain Dis       Date:  2021-04-01       Impact factor: 3.584
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