Prenatal Diagnosis of COL4A1 Mutations in Eight Cases: Further Delineation of the Neurohistopathological Phenotype.

Autor:	Gubana F; Unit of Embryo-Fetal Pathology, AP-HP, 36895Antoine Béclère Hospital, Clamart, France.; Department of Obstetrics and Gynecology, AP-HP, 36895Antoine Béclère Hospital, Paris Saclay University, Clamart, France., Christov C; Department of Histology, CHRU, 571075INSERM U1256, NGERE, Nancy, France., Coste T; Department of Neurovascular Genetics, AP-HP, 571075St Louis Hospital, Paris, France., Tournier-Lasserve E; Department of Neurovascular Genetics, AP-HP, 571075St Louis Hospital, Paris, France., Benachi A; Department of Obstetrics and Gynecology, AP-HP, 36895Antoine Béclère Hospital, Paris Saclay University, Clamart, France., Fallet-Bianco C; Department of Pediatric Pathology, 571075Saint Justine Hospital, Montreal, Canada., Encha-Razavi F; Unit of Embryo-Fetal Pathology, AP-HP, 36895Antoine Béclère Hospital, Clamart, France., Martinovic J; Unit of Embryo-Fetal Pathology, AP-HP, 36895Antoine Béclère Hospital, Clamart, France.
Jazyk:	angličtina
Zdroj:	Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society [Pediatr Dev Pathol] 2022 Jul-Aug; Vol. 25 (4), pp. 435-446. Date of Electronic Publication: 2022 Apr 05.
DOI:	10.1177/10935266221080134
Abstrakt:	Background: Increasing number of mutations responsible for vascular lesions, leading to ischemic or hemorrhagic stroke in young adults, has been identified in the recent years. It has been demonstrated in both mice and humans, that mutations in COL4A1 gene promote cerebral hemorrhages. In humans, both adults and children may be affected, and the spectrum has been broadened recently to neonates and fetuses. Methods: We present a cohort of eight COL4A1 mutated fetuses in which cerebral hemorrhages were detected by ultrasound leading to elective terminations of pregnancy. Results: Our neuropathological studies demonstrated a strikingly similar pathological pattern, dominated by supra- and infratentorial multifocal hemorrhagic lesions of various abundance and age in the vicinity of enlarged small vessels having a discontinuous wall. This was constantly associated with a spectrum of supratentorial post-ischemic damages of the grey and white matters. Morphometric studies of brain vessels confirmed vascular dilation and hypervascularization in both grey and white matters and severe attenuation of the smooth-muscle actin staining in the white matter. Conclusion: These observations add to the rare human neuropathological phenotype of COL4A1 mutations. Its recognition is mandatory to enhance the number of tested patients in the future, as well as the genetic counseling of parents.
Databáze:	MEDLINE
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