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Chiari Malformation Type 1 in EPAS1-Associated Syndrome
- Source :
- International Journal of Molecular Sciences, Vol 20, Iss 11, p 2819 (2019), International Journal of Molecular Sciences
- Publication Year :
- 2019
- Publisher :
- MDPI AG, 2019.
-
Abstract
- A syndrome of multiple paragangliomas/pheochromocytomas, somatostatinoma, and polycythemia due to somatic mosaic gain-of-function mutation of EPAS1, encoding HIF-2α, was previously described. HIF-2α has been implicated in endochondral and intramembranous ossification. Abnormal bone growth of the skull base may lead to Chiari malformation type I. We report two cases of EPAS1 gain-of-function mutation syndrome with Chiari malformation and developmental skull base anomalies. Patients were referred to the Section on Medical Endocrinology, Eunice Kennedy Shriver NICHD, NIH for evaluation of recurrent and metastatic paragangliomas or pheochromocytoma. The syndrome was confirmed genetically by identification of the functional EPAS1 gain-of-function mutation in the resected tumors and circulating leukocytes. Both patients were confirmed for characteristics of EPAS1 gain-of-function mutation syndrome by complete blood count (CBC), plasma biochemistry, and computed tomography (CT) of the abdomen and pelvis. Chiari malformation type I and abnormal bony development of the posterior fossa was found on MRI and CT of the head. The present study implicates EPAS1 mutations in abnormal posterior fossa development resulting in Chiari malformation type I.
- Subjects :
- 0301 basic medicine
Adult
Male
Pathology
medicine.medical_specialty
Pacak-Zhuang syndrome
Catalysis
Inorganic Chemistry
Pheochromocytoma
Craniofacial Abnormalities
Paraganglioma
lcsh:Chemistry
03 medical and health sciences
0302 clinical medicine
Chiari malformation type I
EPAS1
medicine
Basic Helix-Loop-Helix Transcription Factors
Humans
Physical and Theoretical Chemistry
Molecular Biology
Endochondral ossification
lcsh:QH301-705.5
Spectroscopy
Pelvis
Chiari malformation
business.industry
Communication
Organic Chemistry
HIF-2α
General Medicine
Syndrome
Somatostatinoma
Middle Aged
medicine.disease
Computer Science Applications
Arnold-Chiari Malformation
Skull
030104 developmental biology
medicine.anatomical_structure
lcsh:Biology (General)
lcsh:QD1-999
Gain of Function Mutation
Intramembranous ossification
Abdomen
Female
business
030217 neurology & neurosurgery
Subjects
Details
- Language :
- English
- ISSN :
- 14220067
- Volume :
- 20
- Issue :
- 11
- Database :
- OpenAIRE
- Journal :
- International Journal of Molecular Sciences
- Accession number :
- edsair.doi.dedup.....5d4c386b459b10514660a368a9f5d330