Back to Search
Start Over
Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome
- Source :
- American journal of medical genetics. Part A, vol 176, iss 1
- Publication Year :
- 2017
- Publisher :
- Wiley, 2017.
-
Abstract
- PHACE syndrome is the association of segmental facial hemangiomas with congenital arterial, brain, cardiac, and ocular anomalies. Structural brain malformations affect 41-52% of PHACE patients and can be associated with focal neurologic deficits, developmental delays, and/or intellectual disability. To better characterize the spectrum of structural brain and other intracranial anomalies in PHACE syndrome, MRI scans of the head/neck were retrospectively reviewed in 55 patients from the PHACE Syndrome International Clinical Registry and Genetic Repository. All registry patients with a diagnosis of definite PHACE syndrome who had MRI scans of satisfactory quality were included. Of 55 patients, 34 (62%) demonstrated ≥1 non-vascular intracranial anomaly; structural brain malformations were present in 19 (35%). There was no difference in the prevalence of brain anomalies between genders. Brain anomalies were more likely in patients with S1 and/or S2 distribution of facial hemangioma. The most common structural brain defects were cerebellar hypoplasia (25%) and fourth ventricle abnormalities (13%). Dandy-Walker complex and malformations of cortical development were present in 9% and 7%, respectively. Extra-axial findings such as pituitary anomalies (18%) and intracranial hemangiomas (18%) were also observed. Six patients (11%) had anomalies of the globes or optic nerve/chiasm detectable on MRI. Brain malformations comprise a diverse group of structural developmental anomalies that are common in patients with PHACE syndrome. Along with brain malformations, numerous abnormalities of the pituitary, meninges, and globes were observed, highlighting the need for careful radiologic assessment of these structures in the neuroimaging workup for PHACE syndrome.
- Subjects :
- Male
Pituitary gland
Congenital
0302 clinical medicine
magnetic resonance imaging
Medicine
Eye Abnormalities
Cerebellar hypoplasia
Genetics (clinical)
Pediatric
PHACE syndrome
screening and diagnosis
Neurocutaneous Syndromes
medicine.diagnostic_test
pituitary gland
Brain
Magnetic Resonance Imaging
Detection
Phenotype
medicine.anatomical_structure
Pituitary Gland
Neurological
Optic nerve
Biomedical Imaging
Female
Radiology
Abnormalities
Multiple
medicine.medical_specialty
Intellectual and Developmental Disabilities (IDD)
Clinical Sciences
brain malformations
Fourth ventricle
Article
Aortic Coarctation
03 medical and health sciences
Rare Diseases
Neuroimaging
Clinical Research
030225 pediatrics
Internal medicine
Genetics
Humans
Abnormalities, Multiple
business.industry
Neurosciences
Infant, Newborn
Meninges
Infant
Magnetic resonance imaging
Newborn
medicine.disease
Brain Disorders
4.1 Discovery and preclinical testing of markers and technologies
Orphan Drug
Endocrinology
Congenital Structural Anomalies
business
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 15524825
- Volume :
- 176
- Database :
- OpenAIRE
- Journal :
- American Journal of Medical Genetics Part A
- Accession number :
- edsair.doi.dedup.....0b39166a2ae336157b556135b1d4ab59