Linked Life Data

19041204

Source:http://linkedlifedata.com/resource/pubmed/id/19041204

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
9
pubmed:dateCreated
2009-9-1
pubmed:abstractText
The authors report a case of an infant girl with macrocephaly-cutis marmorata telangiectatica congenita (Macrocephaly-CMTC). This patient presented with developmental delay, mild subcostal retractions, and occasional apneic spells. An MRI demonstrated mild to moderate lateral ventricle hydrocephalus, left hemi-megalencephaly, and left cerebellar tonsillar herniation with full occlusion of the cisterna magna. Her foramen magnum was narrowed, measuring 17.5mm in transverse diameter. This value was significantly below the 50th percentile for age, which is 23.5mm. Together, these findings were suggestive of cervicomedullary cord compression, concerning for sudden death. The patient underwent posterior fossa decompression by suboccipital craniectomy and cervical laminectomy. Initially due to hypertrophy and paralysis of the left true and false vocal cords, endotracheal intubation was not achieved, requiring tracheostomy tube placement. To our knowledge this is the first report of apnea in a patient diagnosed with M-CMTC, likely due to cervicomedullary cord compression and perhaps exacerbated by unilateral laryngeal hypertrophy. M-CMTC is a newly-described hemi-hypertrophy syndrome affecting the neurodevelopment of affected children. The authors emphasize airway obstruction secondary to unilateral hypertrophy of the vocal cords in addition to brainstem compromise as a consideration for the etiology of apnea in M-CMTC patients presenting with signs and symptoms of cervicomedullary cord compression.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
1872-7131
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
31
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
706-9
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Apnea and macrocephaly-cutis marmorata telangiectatica congenita.
pubmed:affiliation
University of Texas Medical Branch, Division of Neurosurgery, Galveston, TX 77555, USA.
pubmed:publicationType
Journal Article, Case Reports