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Tegmental Heterotopia in Phace Syndrome: A Previously Undescribed Feature.
Sigolène Girard1, Antoine Fraissenon1, Thomas Lefrancois1
1From the Centre de Référence des Anomalies Vasculaires Superficielles (S.G., A.F., S.C., L.G.), Imagerie pédiatrique et fótale,Hôpital Femme Mère Enfant, Université Claude Bernard Lyon 1, Lyon-Bron, France; INSERM U1151 û Mécanismes et stratégies thérapeutiques dans les syndromes de surcroissance et les anomalies vasculaires ý (A.F., L.G.), Institut Necker Enfants Malades, Paris; Service de Radiologie Mère-Enfant (A.F., L.G.), Hôpital Nord, Centre Hospitalier Universitaire de Saint Etienne, Université Jean Monnet, Saint-Etienne, France; Service d'Imagerie pédiatrique (T.L.), Centre pluridisciplinaire de Diagnostic Prénatal (C.L.V.), CHU de Nantes, France and Service de Dermatologie (H.A.), CHU de Nantes, France.
PHACE syndrome can involve new infratentorial neuroglial heterotopia in the tectal plate. This finding expands the brain imaging spectrum for PHACE syndrome, aiding earlier diagnosis of brainstem malformations.
Area of Science:
- Pediatric Neurology
- Neuroimaging
- Developmental Biology
Background:
- PHACE syndrome is a rare disorder with characteristic facial hemangiomas, posterior fossa malformations, and vascular anomalies.
- Neuronal migration disorders, such as heterotopia, are known but typically supratentorial.
- Infratentorial heterotopia has not been previously documented in PHACE syndrome.
Purpose of the Study:
- To report two novel cases of infratentorial neuroglial heterotopia involving the tectal plate in infants with PHACE syndrome.
- To expand the neuroimaging spectrum of PHACE syndrome.
- To highlight the potential for earlier diagnosis of brainstem malformations.
Main Methods:
- Case report of two infants diagnosed with PHACE syndrome.
- Detailed neuroimaging analysis including brain MRI and MR angiography.
- Histopathological characteristics of lesions described.
Main Results:
- Two infants with PHACE syndrome presented with previously undocumented infratentorial neuroglial heterotopia in the tectal plate.
- Lesions were identified as nodular, isointense to brain parenchyma, and non-enhancing on MRI.
- Associated findings included ventricular septal defect, internal carotid artery dolichoectasia, and cerebellar hypoplasia.
Conclusions:
- Tectal plate heterotopia represents a novel neuroimaging finding in PHACE syndrome.
- This anomaly may arise from a vascular-related neuronal migration mechanism.
- Recognition on MRI, including prenatal imaging, can improve diagnosis and characterization of brainstem malformations in PHACE syndrome.
