| A case of congenital axonal neuropathy associated with West syndrome. | |
| | |
MedLine Citation:
|
PMID: 21211919 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
|
We report the case of an 11-month-old girl with congenital axonal neuropathy and West syndrome. She had generalized hypotonia and an abnormal posture since birth, and apparently, her development was stalled. Deep tendon reflexes were absent, and at 5months of age, she developed West syndrome followed by refractory seizures. Magnetic resonance imaging of the brain revealed mild cerebral and cerebellar atrophy, high-signal-intensity areas in the white matter, and hypoplasia of the corpus callosum. No action potentials were detected in both lower and upper extremities in motor and sensory conduction velocity analysis performed at 11months of age. Sural nerve biopsy was performed, and analysis of the biopsied specimen revealed axonal degeneration. Originally designed resequencing analysis using microarray was carried out for the 27 genes associated with Charcot-Marie-Tooth disease, but no disease-causing mutations were identified. So far, there have been no reports on simultaneous development of congenital axonal neuropathy and West syndrome. |
| | |
Authors:
|
Tomoko Mizuno; Masayuki Sasaki; Hirofumi Komaki; Hiroshi Sakuma; Yoshiaki Saito; Eiji Nakagawa; Kenji Sugai; Yuko Saito; Ikuya Nonaka; Yukio Sawaishi |
Related Documents
:
|
22367829 - Cogan syndrome: an analysis of reported neurological manifestations. 22448279 - Clinically isolated syndromes suggestive of multiple sclerosis: an optical coherence to... 21687339 - A patient with shortness of breath and bilateral pulmonary infiltrates. 16897619 - Intracranial hypotension syndrome following chiropractic manipulation of the cervical s... 6204489 - Clinical and scanning electron microscopic findings in a solitary case of trichorhinoph... 9215769 - Infantile spasms in two children with williams syndrome. 3786419 - Neurovascular entrapment in the regions of the shoulder and posterior triangle of the n... 11020649 - A female with central anticholinergic syndrome responsive to neostigmine. 11746009 - Limb/pelvis hypoplasia/aplasia with skull defect (schinzel phocomelia): distinctive fea... |
Publication Detail:
|
Type: JOURNAL ARTICLE Date: 2011-1-4 |
Journal Detail:
|
Title: Brain & development Volume: - ISSN: 1872-7131 ISO Abbreviation: - Publication Date: 2011 Jan |
Date Detail:
|
Created Date: 2011-1-7 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 7909235 Medline TA: Brain Dev Country: - |
Other Details:
|
Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
|
Copyright © 2010 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved. |
Affiliation:
|
Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: An unusual case of a synovial sarcoma of the parotid gland in an elderly patient.
Next Document: Carotid artery stenting and follow-up: Value of 64-MSCT angiography as complementary imaging method ...