Expending the Phenotypic Spectrum of Encephalocraniocutaneous Lipomatosis: About a Prenatal Case With Complete Autopsy
| Autor: | Sophie Collardeau-Frachon, Hervé Sartelet, Didier Riethmuller, Julie Cattin, Justine Formet, Marion Lenoir |
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| Přispěvatelé: | Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Service de Gynécologie Obstétrique [CHRU Besançon], Institut de Biologie et Pathologie [CHU Grenoble] (IBP), CHU Grenoble-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Service de radiologie [CHRU Besancon], Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Société Française de Foetopathologie [Paris] (SOFFOET), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL), CarMeN, laboratoire |
| Jazyk: | angličtina |
| Rok vydání: | 2022 |
| Předmět: |
Pathology
medicine.medical_specialty prenatal Choristoma Eye Diseases Fgfr1 [SDV]Life Sciences [q-bio] Multicystic dysplastic kidney encephalocraniocutaneous lipomatosis Autopsy Pathology and Forensic Medicine autopsy Pregnancy medicine Nevus Humans Lipomatosis Nevus psiloliparus RASopathies Cerebral atrophy business.industry Neurocutaneous Syndromes General Medicine Syndrome medicine.disease [SDV] Life Sciences [q-bio] medicine.anatomical_structure somatic mosaicism Scalp Pediatrics Perinatology and Child Health Encephalocraniocutaneous Lipomatosis Female Lipoma business |
| Zdroj: | Pediatric and developmental pathology Pediatric and developmental pathology, 2022, 25 (2), pp.180-185. ⟨10.1177/10935266211040802⟩ |
| ISSN: | 1093-5266 1615-5742 |
| DOI: | 10.1177/10935266211040802⟩ |
| Popis: | International audience; Encephalocraniocutaneous lipomatosis (ECCL) or Haberland syndrome (MIM #613001) is a rare congenital neurocutaneous disorder. It is characterized by unilateral ocular, cutaneous and central nervous system anomalies. Key clinical features include hairless fatty tissue nevus of the scalp, choristoma of the eye and intraspinal and intracerebral lipomas. We report one of the first cases diagnosed after termination of pregnancy at 35 WG, including antenatal and post-mortem imaging, complete autopsy and genetic analysis. Prenatal ultrasound and MRI of the third trimester showed multifocal spinal lesions and left lateral cerebral ventriculomegaly with cerebral atrophy. Diagnosis of ECCL was suggested at complete autopsy which revealed nevus psiloliparus of the scalp, facial hamartomas and intracranial and spinal lipomas. In addition, our case also exhibited a cardiac rhabdomyoma and a multicystic dysplastic kidney, both never reported to date in this syndrome. ECCL was confirmed by the identification of a postzygotic FGFR1 mutation. We reviewed the literature and discuss the pathogenesis of this syndrome. |
| Databáze: | OpenAIRE |
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