Document Detail

New onset focal weakness in children with Down syndrome.
MedLine Citation:
PMID:  15211649     Owner:  NLM     Status:  MEDLINE    
New onset focal weakness is relatively common in patients with Down syndrome (DS), and has broad differential diagnosis. Ten cases of new onset focal weakness in patients with DS were encountered or are currently being followed in two DS clinics, with a combined population of patients of approximately 850, for a clinic population prevalence of 1.2%. The median age at presentation was 4 years old (range 1 month-44 years). The causes of new onset focal weakness were: stroke from Moyamoya disease (two patients); stroke from vaso occlusive disease (one patient); stroke from venus sinus thrombosis (one patient); traumatic subdural hematoma (one patient); brain abscess (one patient); spinal cord injury (SCI) from cervical spinal stenosis (two patients); SCI from atlantoaxial instability (AAI) (one patient); and brachial plexus injury (one patient). Of the 10 patients with focal weakness, 8 had potentially treatable conditions, and 5 had surgery. The differential diagnosis of new onset focal weakness in DS is broad, with diseases reported involving all levels of the nervous system from brain to muscle. For some diagnoses, expeditious diagnosis may improve outcome.
Gordon Worley; Rolla Shbarou; Amy N Heffner; Karin M Belsito; George T Capone; Priya S Kishnani
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  128A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2004 Jul 
Date Detail:
Created Date:  2004-06-22     Completed Date:  2004-12-22     Revised Date:  2013-06-09    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  15-8     Citation Subset:  IM    
Copyright Information:
Copyright 2004 Wiley-Liss, Inc.
Department of Pediatrics, Program in Neurodevelopmental Pediatrics, Duke University Medical Center, Durham, NC 27710, USA.
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MeSH Terms
Age of Onset
Brain Abscess / complications
Child, Preschool
Diagnosis, Differential
Down Syndrome / complications*
Hematoma, Subdural / complications
Moyamoya Disease / complications
Muscle Weakness / etiology*
Spinal Cord Injuries / complications
Stroke / complications
Grant Support
K23 RR 16060-01/RR/NCRR NIH HHS; K23 RR016060-01/RR/NCRR NIH HHS

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