Abstract | OBJECTIVE: 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: INTERVENTION: 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: 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 |
Journal | Archives of neurology
(Arch Neurol)
Vol. 68
Issue 1
Pg. 127-9
(Jan 2011)
ISSN: 1538-3687 [Electronic] United States |
PMID | 21220685
(Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
|
Chemical References |
- NAV1.4 Voltage-Gated Sodium Channel
- SCN4A protein, human
- Sodium Channels
|
Topics |
- 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)
|