Novel clinical features in pontine tegmental cap dysplasia.
Pediatr Neurol
; 46(6): 393-6, 2012 Jun.
Article
in En
| MEDLINE
| ID: mdl-22633637
ABSTRACT
Pontine tegmental cap dysplasia is a rare neurologic condition first described by Barth et al. in 2007. It is characterized by a vaulted pontine tegmentum projecting into the fourth ventricle and ventral pontine hypoplasia. Patients present with developmental delay, cerebellar and pyramidal abnormalities, cranial nerve dysfunction, and various extracranial malformations. The condition is thought to occur as a result of aberrant neuronal axonal guidance during embryologic development. Its genetic etiology has not been identified. We describe a further case of this rare condition with several features not previously reported, including aortic arch hypoplasia and mirror movements.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Pons
/
Ventral Tegmental Area
/
Motor Skills Disorders
Type of study:
Prognostic_studies
Limits:
Child, preschool
/
Female
/
Humans
Language:
En
Journal:
Pediatr Neurol
Journal subject:
NEUROLOGIA
/
PEDIATRIA
Year:
2012
Document type:
Article
Affiliation country:
Australia