A case of COL4A1 -related disorder with a variety of brain imaging findings

Abstract

COL4A1 encodes the a1 chain of type IV collagen and is associated with porencephaly and schizencephaly. We report the case of a patient with COL4A1 -related disorder who displayed a variety of abnormal findings on brain MRI but not porencephaly and schizencephaly The patient was a 21-year-old woman who was born at term without asphyxia by cesarean section due to placenta previa. During infancy psychomotor retardation and microcephaly were identified. At 7 months old, she developed West syndrome. Brain MRI showed diffuse white matter lesions, dilated ventricles, cerebellar atrophy and cerebral calcification. No cause of these findings was evident, and she was diagnosed with spastic quadriplegia. At 19 years old, she presented with lacunar infarcts as well as small cerebral hemorrhage and cerebral aneu-rysms. The ischemic and hemorrhagic lesions led us to suspect COL4A1 -related disorder. After genetic counseling, analysis of COL4A1 identified a heterozygous novel de novo mutation (c.2504G> A; p.Gly835Glu). COL4A1-related disorders may be present but undiagnosed in patients with palsy of unknown origin. Genetic counselling before diagnosis is important because of the autosomal dominant inheritance of this pathology.