| Spinocerebellar ataxia type 2 presenting with cognitive regression in childhood. | |
| | |
MedLine Citation:
|
PMID: 18344458 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Spinocerebellar ataxia type 2 typically presents in adulthood with progressive ataxia, dysarthria, tremor, and slow saccadic eye movements. Childhood-onset spinocerebellar ataxia type 2 is rare, and only the infantile-onset form has been well characterized clinically. This article describes a girl who met all developmental milestones until age 3(1/2) years, when she experienced cognitive regression that preceded motor regression by 6 months. A diagnosis of spinocerebellar ataxia type 2 was delayed until she presented to the emergency department at age 7 years. This report documents the results of her neuropsychologic evaluation at both time points. This case broadens the spectrum of spinocerebellar ataxia type 2 presentation in childhood, highlights the importance of considering a spinocerebellar ataxia in a child who presents with cognitive regression only, and extends currently available clinical information to help clinicians discuss the prognosis in childhood spinocerebellar ataxia type 2. |
| | |
Authors:
|
Melissa B Ramocki; Lynn Chapieski; Ryan O McDonald; Fabio Fernandez; Amy D Malphrus |
Related Documents
:
|
16866298 - Pediatric macrophagic myofasciitis associated with motor delay. 10052378 - Glial choristoma of the tongue: a case report and review of the literature. 3873878 - Fulminating epiglottitis in adults. report of three cases and review of the literature. 3527018 - Infantile subglottic hemangiomas. an update. 21071238 - Marginal resection for treatment of mandibular osteomyelitis associated with osteopetro... 22964128 - Familial hypocalciuric hypercalcemia: review of three cases. |
Publication Detail:
|
Type: Case Reports; Journal Article Date: 2008-03-14 |
Journal Detail:
|
Title: Journal of child neurology Volume: 23 ISSN: 1708-8283 ISO Abbreviation: J. Child Neurol. Publication Date: 2008 Sep |
Date Detail:
|
Created Date: 2008-10-01 Completed Date: 2009-01-08 Revised Date: 2013-03-07 |
Medline Journal Info:
|
Nlm Unique ID: 8606714 Medline TA: J Child Neurol Country: United States |
Other Details:
|
Languages: eng Pagination: 999-1001 Citation Subset: IM |
Affiliation:
|
Section of Pediatric Neurology, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
African Americans Age Factors Age of Onset Ataxia / genetics, physiopathology Brain / metabolism, physiopathology Child Cognition Disorders / diagnosis, genetics*, physiopathology Developmental Disabilities / diagnosis, genetics*, physiopathology Diagnosis, Differential Female Genetic Predisposition to Disease / genetics Humans Movement Disorders / genetics, physiopathology Neuropsychological Tests Regression (Psychology)* Spinocerebellar Ataxias / complications*, physiopathology, psychology |
| Grant Support | |
ID/Acronym/Agency:
|
L40 NS060540/NS/NINDS NIH HHS; L40 NS060540-01/NS/NINDS NIH HHS |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Neurologic findings in infants with deformational plagiocephaly.
Next Document: A case of pediatric tumefactive demyelinating lesion misdiagnosed and treated as glioblastoma.