Document Detail


Stridor as a neonatal presentation of skeletal muscle sodium channelopathy.
MedLine Citation:
PMID:  21220685     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
OBJECTIVE: To describe stridor as the presenting feature in a neonate with the skeletal muscle sodium channelopathy paramyotonia congenita.
DESIGN: Case report.
SETTING: Outpatient neuromuscular clinics at Great Ormond Street Hospital for Children and the Medical Research Council Centre for Neuromuscular Disease at the National Hospital for Neurology and Neurosurgery, London, England.
PATIENT: A child carrying the Thr1313Met SCN4A mutation associated with paramyotonia congenita.
INTERVENTION: Supportive care in the neonatal period and administration of mexiletine hydrochloride at age 4 years.
MAIN OUTCOME MEASURE: The association of stridor and paramyotonia congenita was made retrospectively following the diagnosis in the infant's mother; the child is now regularly reviewed at the pediatric outpatient clinic.
RESULTS: Persistent stridor was present for the first 6 months of life, and episodic stridor can still be exacerbated by intercurrent respiratory tract infection, cold, laughter, or crying. Common symptoms of paramyotonia congenita have been apparent from age 1 year and are beginning to respond to a recent trial of mexiletine.
CONCLUSIONS: To our knowledge, neonatal stridor has not previously been reported in skeletal muscle sodium channelopathies. The recognition that infants inheriting mutations known to cause paramyotonia congenita are inherently at risk for developing neonatal complications following an uneventful labor is important for all training neurologists so they can advise expectant mothers and pediatric and obstetric colleagues appropriately.
Authors:
Emma Matthews; Adnan Y Manzur; Richa Sud; Francesco Muntoni; Michael G Hanna
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Archives of neurology     Volume:  68     ISSN:  1538-3687     ISO Abbreviation:  Arch. Neurol.     Publication Date:  2011 Jan 
Date Detail:
Created Date:  2011-01-11     Completed Date:  2011-02-14     Revised Date:  2014-02-20    
Medline Journal Info:
Nlm Unique ID:  0372436     Medline TA:  Arch Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  127-9     Citation Subset:  AIM; IM    
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MeSH Terms
Descriptor/Qualifier:
Child, Preschool
Diagnosis, Differential
Humans
Infant, Newborn
Male
Muscle Weakness / diagnosis*,  genetics
Muscle, Skeletal / metabolism*,  pathology*
Myotonic Disorders / diagnosis*,  genetics
NAV1.4 Voltage-Gated Sodium Channel
Respiratory Sounds / diagnosis*,  genetics
Sodium Channels / genetics*
Grant Support
ID/Acronym/Agency:
1 U45 RR198442-01/RR/NCRR NIH HHS; 5U54 RR019498-05/RR/NCRR NIH HHS; G0502130//Medical Research Council; G0601943//Medical Research Council; //Department of Health
Chemical
Reg. No./Substance:
0/NAV1.4 Voltage-Gated Sodium Channel; 0/SCN4A protein, human; 0/Sodium Channels

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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