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Tuberomammillary Fusion and Moya-Moya Vasculopathy Associated with PHACE SyndromeStudy Funding The authors report no targeted funding.
A 1-year and 5 month-old female child with a large right facial hemangioma ([Fig. 1]) presents recurrent seizures. Brain magnetic resonance imaging ([Fig. 2]) demonstrated posterior fossa malformations, with a right colobomatous cyst and an extensive sub-occlusive vasculopathy with a Moya-Moya pattern consistent with PHACE syndrome.
The PHACE syndrome is a phakomatosis also known as cutaneous hemangioma–vascular complex syndrome or Pascual-Castroviejo type II syndrome. There are some extracerebral and intracranial vascular abnormalities, including the Moya-Moya arteriopathy which affects less than 7% of the patients. Also, there are no previous papers reporting the association with tuberomammillary fusion in this clinical scenario.
This uncommon association of PHACE syndrome is extremely relevant for neurologists, neuropediatricians, and neuroradiologists, expanding the imaging phenotype features.
1. Case report project: A: conception; B: organization; C: execution.
2. Manuscript: A: writing of the first draft; B: review and critique.
Freitas L.F.: 1A, 1B, 1C, 2A, 2B.
Miranda E.C.: 1A, 1B, 1C.
Amaro A.P.: 1A, 1B, 1C.
Narvaez E.O.: 1A, 1B, 1C.
Duarte M.L.: 1C, 2A, 2B.
Full consent was obtained from the patient for the case report publication.
Dr. Freitas reports no disclosure.
Dr. Miranda reports no disclosure.
Dr. Amaro reports no disclosure.
Dr. Narvaez reports no disclosure.
Dr. Duarte reports no disclosure.
The authors report no disclosures relevant to the manuscript.
Received: 05 June 2023
Accepted: 13 September 2023
Accepted Manuscript online:
16 September 2023
Article published online:
29 October 2023
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- 1 Heyer GL, Dowling MM, Licht DJ. et al. The cerebral vasculopathy of PHACES syndrome. Stroke 2008; 39 (02) 308-316
- 2 Schilter KF, Steiner JE, Demos W. et al. RNF213 variants in a child with PHACE syndrome and moyamoya vasculopathy. Am J Med Genet A 2017; 173 (09) 2557-2561