Tegmental Heterotopia in PHACE Syndrome: A Previously Undescribed Feature
6 affiliations
- 1From the Centre de Référence des Anomalies Vasculaires Superficielles, Imagerie Pédiatrique et Fœtale, Hôpital Femme Mère Enfant (S.G., A.F., S.C., L.G.), Université Claude Bernard, Lyon-Bron, France
- 2INSERM U1151 “Mécanismes et Stratégies Thérapeutiques Dans les Syndromes de Surcroissance et Les Anomalies Vasculaires (A.F., L.G.),” Institut Necker Enfants Malades, Paris, France
- 3Service de Radiologie Mère-Enfant (A.F.), Hôpital Nord, Centre Hospitalier Universitaire de Saint Etienne, Université Jean Monnet, Saint-Etienne, France
- 4Service d’Imagerie Pédiatrique (T.L.), CHU de Nantes, Nantes, France
- 5Service de Dermatologie (H.A.), CHU de Nantes, France
- 6Centre Pluridisciplinaire de Diagnostic Prénatal (C.L.V.), CHU de Nantes, Nantes, France
Abstract
PHACE syndrome is a rare pediatric disorder characterized by posterior fossa malformations, large segmental facial hemangiomas, arterial anomalies, cardiac defects, and eye abnormalities. Neuronal migration disorders, including supratentorial heterotopia, have been previously reported as minor criteria. We describe 2 novel cases of infratentorial neuroglial heterotopia involving the tectal plate, a feature not previously documented in PHACE syndrome. Case 1 involved a 6-week-old infant with a right facial segmental hemangioma and ventricular septal defect. Brain MRI revealed two 5-mm nodular lesions posterior to the tectal plate, isointense to brain parenchyma and nonenhancing, consistent with infratentorial neuroglial heterotopia. MR angiography showed right internal carotid artery dolichoectasia with absent communicating arteries. Case 2 involved a neonate with a prenatal posterior fossa cyst and right cerebellar hypoplasia. MRI demonstrated a 7-mm tectal plate lesion with similar characteristics; no relevant vascular anomalies were observed. These findings expand the neuroimaging spectrum of PHACE syndrome to include tectal plate heterotopia, which might result from hypothetical vascular-related neuronal migration mechanism. Recognition of this anomaly on standard axial MRI sequences, including prenatal imaging, may facilitate earlier diagnosis and better characterization of brainstem malformations in PHACE syndrome. This is particularly relevant because infantile hemangiomas are not yet clinically apparent in utero or immediately after birth. Further studies are warranted to determine prevalence, clinical relevance, and pathophysiologic mechanisms underlying this distinct anomaly.
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BibTeX
@article{girard2026tegmental,
title = {{Tegmental Heterotopia in PHACE Syndrome: A Previously Undescribed Feature}},
author = {Sigolène Girard and Antoine Fraissenon and Thomas Lefrancois and Hélène Aubert and Claudine Le Vaillant and Sara Cabet and Laurent Guibaud},
journal = {AJNR: American Journal of Neuroradiology},
year = {2026},
month = nov,
doi = {10.3174/ajnr.a9365},
url = {https://doi.org/10.3174/ajnr.a9365},
note = {CC BY},
}
RIS
TY - JOUR
TI - Tegmental Heterotopia in PHACE Syndrome: A Previously Undescribed Feature
AU - Sigolène Girard
AU - Antoine Fraissenon
AU - Thomas Lefrancois
AU - Hélène Aubert
AU - Claudine Le Vaillant
AU - Sara Cabet
AU - Laurent Guibaud
PY - 2026
DA - 2026/11/06
JO - AJNR: American Journal of Neuroradiology
DO - 10.3174/ajnr.a9365
UR - https://doi.org/10.3174/ajnr.a9365
AB - PHACE syndrome is a rare pediatric disorder characterized by posterior fossa malformations, large segmental facial hemangiomas, arterial anomalies, cardiac defects, and eye abnormalities. Neuronal migration disorders, including supratentorial heterotopia, have been previously reported as minor criteria. We describe 2 novel cases of infratentorial neuroglial heterotopia involving the tectal plate, a feature not previously documented in PHACE syndrome. Case 1 involved a 6-week-old infant with a right facial segmental hemangioma and ventricular septal defect. Brain MRI revealed two 5-mm nodular lesions posterior to the tectal plate, isointense to brain parenchyma and nonenhancing, consistent with infratentorial neuroglial heterotopia. MR angiography showed right internal carotid artery dolichoectasia with absent communicating arteries. Case 2 involved a neonate with a prenatal posterior fossa cyst and right cerebellar hypoplasia. MRI demonstrated a 7-mm tectal plate lesion with similar characteristics; no relevant vascular anomalies were observed. These findings expand the neuroimaging spectrum of PHACE syndrome to include tectal plate heterotopia, which might result from hypothetical vascular-related neuronal migration mechanism. Recognition of this anomaly on standard axial MRI sequences, including prenatal imaging, may facilitate earlier diagnosis and better characterization of brainstem malformations in PHACE syndrome. This is particularly relevant because infantile hemangiomas are not yet clinically apparent in utero or immediately after birth. Further studies are warranted to determine prevalence, clinical relevance, and pathophysiologic mechanisms underlying this distinct anomaly.
SN - 0195-6108
SN - 1936-959X
ER -