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Apnea and macrocephaly-cutis marmorata telangiectatica congenita.
- Source :
-
Brain & development [Brain Dev] 2009 Oct; Vol. 31 (9), pp. 706-9. Date of Electronic Publication: 2008 Nov 28. - Publication Year :
- 2009
-
Abstract
- 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.
- Subjects :
- Abnormalities, Multiple
Apnea complications
Apnea surgery
Constriction, Pathologic
Decompression, Surgical
Female
Foramen Magnum pathology
Head surgery
Humans
Hydrocephalus complications
Hydrocephalus pathology
Hydrocephalus surgery
Hypertrophy
Infant
Infant, Newborn
Infant, Premature
Magnetic Resonance Imaging
Apnea congenital
Brain pathology
Head abnormalities
Subjects
Details
- Language :
- English
- ISSN :
- 1872-7131
- Volume :
- 31
- Issue :
- 9
- Database :
- MEDLINE
- Journal :
- Brain & development
- Publication Type :
- Academic Journal
- Accession number :
- 19041204
- Full Text :
- https://doi.org/10.1016/j.braindev.2008.10.006