{
  "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.",
  "abstract_shown": true,
  "affiliations": [
    "From 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",
    "INSERM U1151 “Mécanismes et Stratégies Thérapeutiques Dans les Syndromes de Surcroissance et Les Anomalies Vasculaires (A.F., L.G.),” Institut Necker Enfants Malades, Paris, France",
    "Service de Radiologie Mère-Enfant (A.F.), Hôpital Nord, Centre Hospitalier Universitaire de Saint Etienne, Université Jean Monnet, Saint-Etienne, France",
    "Service d’Imagerie Pédiatrique (T.L.), CHU de Nantes, Nantes, France",
    "Service de Dermatologie (H.A.), CHU de Nantes, France",
    "Centre Pluridisciplinaire de Diagnostic Prénatal (C.L.V.), CHU de Nantes, Nantes, France"
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 7,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Sigolène Girard"
    },
    {
      "affs": [
        0,
        1,
        2
      ],
      "name": "Antoine Fraissenon",
      "orcid": "0000-0003-4414-1246"
    },
    {
      "affs": [
        3
      ],
      "name": "Thomas Lefrancois"
    },
    {
      "affs": [
        4
      ],
      "name": "Hélène Aubert"
    },
    {
      "affs": [
        5
      ],
      "name": "Claudine Le Vaillant"
    },
    {
      "affs": [
        0
      ],
      "name": "Sara Cabet"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Laurent Guibaud"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/6tjgnwg8zxbft.bib",
  "cited_by": 0,
  "doi": "10.3174/ajnr.a9365",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13738330/",
  "id": "6tjgnwg8zxbft",
  "issns": [
    "0195-6108",
    "1936-959X"
  ],
  "landing_url": "https://doi.org/10.3174/ajnr.a9365",
  "language": "en",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "journal",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Clinical"
    ],
    [
      "heading",
      "Pediatric Neuroimaging"
    ],
    [
      "openalex",
      "2735|Fetal and Pediatric Neurological Disorders"
    ]
  ],
  "openalex": "W7155637707",
  "pdf_url": null,
  "pmcid": "PMC13738330",
  "pmid": "42034566",
  "published": "2026-11-06",
  "publisher": "American Society of Neuroradiology",
  "ris": "https://research.draconitic.com/paper/6tjgnwg8zxbft.ris",
  "sources": [
    {
      "first_seen": "2026-11-09T12:23:20Z",
      "native_id": "PMC13738330",
      "source": "pmc",
      "url": "https://doi.org/10.3174/ajnr.a9365"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2735|Fetal and Pediatric Neurological Disorders",
      "subfield": "reproductive-child"
    }
  ],
  "title": "Tegmental Heterotopia in PHACE Syndrome: A Previously Undescribed Feature",
  "title_text": "Tegmental Heterotopia in PHACE Syndrome: A Previously Undescribed Feature",
  "type": "peer-reviewed",
  "updated_at": "2026-11-09T12:23:20Z",
  "url": "https://research.draconitic.com/paper/6tjgnwg8zxbft",
  "venue": "AJNR: American Journal of Neuroradiology",
  "versions": []
}