Literature DB >> 28764307

Infantile Alexander Disease: Case Report and Review of Literature.

Soumyabrata Sarkar1, Rupam Sinha2, Amitabha Chakraborty3, Tanya Khaitan4, Biyas Bhowmik5.   

Abstract

Alexander Disease (AD) is an autosomal dominant leukodystrophy and occurs predominantly in infants and children. It usually results in death within ten years after onset. Among the four subtypes, infantile form comprises the most of affected individuals. It presents in the first two years of life, typically with progressive psychomotor deficiency, loss of developmental milestones, seizures, and pyramidal signs. Clinical and magnetic resonance image findings usually establish diagnosis of AD. Here, we present a case of Infantile AD with characteristic clinical and radiological features.

Entities:  

Keywords:  Leukodystrophy; Magnetic resonance imaging; Seizures

Year:  2017        PMID: 28764307      PMCID: PMC5535494          DOI: 10.7860/JCDR/2017/26875.10106

Source DB:  PubMed          Journal:  J Clin Diagn Res        ISSN: 0973-709X


  11 in total

Review 1.  Childhood leukodystrophies: a clinical perspective.

Authors:  Alfried Kohlschütter; Florian Eichler
Journal:  Expert Rev Neurother       Date:  2011-10       Impact factor: 4.618

Review 2.  Neuropathology for the neuroradiologist: Rosenthal fibers.

Authors:  F J Wippold; A Perry; J Lennerz
Journal:  AJNR Am J Neuroradiol       Date:  2006-05       Impact factor: 3.825

3.  Neonatal Alexander disease: MR imaging prenatal diagnosis.

Authors:  E Vázquez; A Macaya; N Mayolas; S Arévalo; M A Poca; G Enríquez
Journal:  AJNR Am J Neuroradiol       Date:  2008-07-24       Impact factor: 3.825

Review 4.  Alexander's disease: reassessment of a neonatal form.

Authors:  Navneet Singh; Catherine Bixby; Denzil Etienne; R Shane Tubbs; Marios Loukas
Journal:  Childs Nerv Syst       Date:  2012-08-14       Impact factor: 1.475

5.  Alexander disease: diagnosis with MR imaging.

Authors:  M S van der Knaap; S Naidu; S N Breiter; S Blaser; H Stroink; S Springer; J C Begeer; R van Coster; P G Barth; N H Thomas; J Valk; J M Powers
Journal:  AJNR Am J Neuroradiol       Date:  2001-03       Impact factor: 3.825

6.  Infantile onset alexander disease with normal head circumference: a genetically proven case report.

Authors:  Manisha Goyal; Sumit Mehndiratta; Mohammed Faruq; Manish Kumar Dwivedi; Seema Kapoor
Journal:  J Clin Diagn Res       Date:  2014-11-20

7.  Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation.

Authors:  D Rodriguez; F Gauthier; E Bertini; M Bugiani; M Brenner; S N'guyen; C Goizet; A Gelot; R Surtees; J M Pedespan; X Hernandorena; M Troncoso; G Uziel; A Messing; G Ponsot; D Pham-Dinh; A Dautigny; O Boespflug-Tanguy
Journal:  Am J Hum Genet       Date:  2001-09-20       Impact factor: 11.025

8.  Infantile Alexander disease: A rare leukodystrophy.

Authors:  K Jagadish Kumar; H Suryaprakash; V G Manjunath; S Harsha
Journal:  J Pediatr Neurosci       Date:  2012-05

9.  Alexander Disease: Report of Two Unrelated Infantile Form Cases, Identified by GFAP Mutation Analysis and Review of Literature; The First Report from Iran.

Authors:  Mahmoud-Reza Ashrafi; Alireza Tavasoli; Omid Aryani; Hooman Alizadeh; Massoud Houshmand
Journal:  Iran J Pediatr       Date:  2013-08       Impact factor: 0.364

10.  Infantile-onset Alexander disease in a child with long-term follow-up by serial magnetic resonance imaging: a case report.

Authors:  Fumiko Nishibayashi; Miho Kawashima; Yoshiaki Katada; Nobuyuki Murakami; Miwako Nozaki
Journal:  J Med Case Rep       Date:  2013-07-26
View more
  1 in total

1.  When the head is big, think this too: Megalencephalic leukoencephalopathy in a toddler with only a large head. A case report.

Authors:  Shyam Chandrasekar; Joseph John; Amit K Satapathy; Samarendra Mahapatro
Journal:  J Family Med Prim Care       Date:  2021-07-02
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.