PHACE syndrome and congenitally absent thyroid gland at MR imaging

Mark D Mamlouk¹, John-Paul J Yu², Sarah Asch³, Erin F Mathes⁴

Affiliations

¹ Department of Radiology and Biomedical Imaging, University of California, San Francisco, 505 Parnassus Avenue, L352, San Francisco, CA 94143; The Permanente Medical Group, Kaiser Permanente Medical Center, Santa Clara, 700 Lawrence Expy, Santa Clara, CA 95051. Electronic address: mark.d.mamlouk@kp.org.
² Department of Radiology and Biomedical Imaging, University of California, San Francisco, 505 Parnassus Avenue, L352, San Francisco, CA 94143; Department of Radiology, University of Wisconsin School of Medicine and Public Health, E3/366 Clinical Science Center, 600 Highland Avenue, M/C 3252, Madison, WI 53792.
³ Department of Dermatology, University of California, San Francisco, 1701 Divisadero Street, Third Floor, San Francisco, CA 94115; Department of Dermatology, Mayo Clinic, 200 First Street Southwest, Rochester, MN 55905.
⁴ Department of Dermatology, University of California, San Francisco, 1701 Divisadero Street, Third Floor, San Francisco, CA 94115.

PMID: 26995578
DOI: 10.1016/j.clinimag.2015.11.007

Case Reports

PHACE syndrome and congenitally absent thyroid gland at MR imaging

Mark D Mamlouk et al. Clin Imaging. 2016 Mar-Apr.

. 2016 Mar-Apr;40(2):237-40.

doi: 10.1016/j.clinimag.2015.11.007. Epub 2015 Nov 22.

Authors

Mark D Mamlouk¹, John-Paul J Yu², Sarah Asch³, Erin F Mathes⁴

Affiliations

¹ Department of Radiology and Biomedical Imaging, University of California, San Francisco, 505 Parnassus Avenue, L352, San Francisco, CA 94143; The Permanente Medical Group, Kaiser Permanente Medical Center, Santa Clara, 700 Lawrence Expy, Santa Clara, CA 95051. Electronic address: mark.d.mamlouk@kp.org.
² Department of Radiology and Biomedical Imaging, University of California, San Francisco, 505 Parnassus Avenue, L352, San Francisco, CA 94143; Department of Radiology, University of Wisconsin School of Medicine and Public Health, E3/366 Clinical Science Center, 600 Highland Avenue, M/C 3252, Madison, WI 53792.
³ Department of Dermatology, University of California, San Francisco, 1701 Divisadero Street, Third Floor, San Francisco, CA 94115; Department of Dermatology, Mayo Clinic, 200 First Street Southwest, Rochester, MN 55905.
⁴ Department of Dermatology, University of California, San Francisco, 1701 Divisadero Street, Third Floor, San Francisco, CA 94115.

PMID: 26995578
DOI: 10.1016/j.clinimag.2015.11.007

Abstract

PHACE syndrome is a rare neurocutaneous disorder characterized by posterior fossa malformations, hemangiomas, arterial anomalies, cardiac defects, and abnormalities of the eye. Thyroid disorders associated with PHACE syndrome have been described, although there are limited reports of this rare occurrence. We report a case of PHACE syndrome with congenital hypothyroidism in an infant, for which absent thyroid gland was diagnosed at magnetic resonance imaging.

Keywords: Hypothyroidism; Magnetic resonance imaging; PHACE; Vascular anomalies.

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PHACE syndrome and congenitally absent thyroid gland at MR imaging

Affiliations

PHACE syndrome and congenitally absent thyroid gland at MR imaging

Authors

Affiliations

Abstract

Publication types

MeSH terms

Supplementary concepts

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical