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CErebral Dysgenesis, Neuropathy, Ichthyosis, and Keratoderma (CEDNIK) Syndrome with Brain Stem Malformation.

Authors :
Karunakaran, Sudhakar
Thomas, Bejoy
Menon, Ramshekhar
Nair, Muralidharan
Nair, Sruthi S.
Sundaram, Soumya
Source :
Annals of Indian Academy of Neurology; Nov/Dec2021, Vol. 24 Issue 6, p979-981, 3p
Publication Year :
2021

Abstract

A case study of a six‑year‑old female, second born of second‑degree consanguineous parentage, was delivered at term without any complications. Topics include Magnetic resonance imaging (MRI) of the brain at age 3 years, showed dysgenesis of the corpus callosum, bilateral front parietal polymicrogyria with abnormal cortical folding; and the electroneurographic study was confirmatory for the presence of diffuse sensorimotor demyelinating polyneuropathy.

Details

Language :
English
ISSN :
09722327
Volume :
24
Issue :
6
Database :
Complementary Index
Journal :
Annals of Indian Academy of Neurology
Publication Type :
Academic Journal
Accession number :
154230890
Full Text :
https://doi.org/10.4103/aian.AIAN_673_20