title: COL4A1 mutations associated with a characteristic pattern of intracranial calcification.
abstract: Intracranial calcification (ICC) is a relatively common radiological finding in children undergoing investigation for neurological disorders. Many causes are recognised, and ICC is often regarded as a non-specific sign.From an ongoing study of ICC, we identified 5 patients with characteristic radiological features, in whom a mutation in the COL4A1 gene was found.All patients had CT and MR imaging. MR images demonstrated features of periventricular leukomalacia with irregular dilatation of the lateral ventricles with or without porencephaly, loss of hemispheric white matter volume, and high signal on T2 and FLAIR sequences within periventricular and deep white matter. Calcification was apparent on MR in 4 patients. CT scans demonstrated spot and linear calcification in the subependymal region and around areas of porencephaly. Calcification was also visible in the deep cerebral white matter and basal ganglia. 1 patient showed calcification in the central pons.ICC occurs in COL4A1-related disease. The radiological features are distinct from other conditions demonstrating recognisable patterns of ICC, such as congenital cytomegalovirus infection and Aicardi-Goutiéres syndrome. In the absence of a known risk factor for periventricular leukomalacia, the presence of these radio-logical findings should suggest the possibility of COL4A1-related disease.
authors.affiliation: Department of Paediatric Neurology, Leeds General Infirmary, UK. JH.Livingston@leedsth.nhs.uk
authors.forename: J
authors.initials: J
authors.lastname: Livingston
authors.forename: D
authors.initials: D
authors.lastname: Doherty
authors.forename: S
authors.initials: S
authors.lastname: Orcesi
authors.forename: D
authors.initials: D
authors.lastname: Tonduti
authors.forename: A
authors.initials: A
authors.lastname: Piechiecchio
authors.forename: R
authors.initials: R
authors.lastname: La Piana
authors.forename: E
authors.initials: E
authors.lastname: Tournier-Lasserve
authors.forename: A
authors.initials: A
authors.lastname: Majumdar
authors.forename: S
authors.initials: S
authors.lastname: Tomkins
authors.forename: G
authors.initials: G
authors.lastname: Rice
authors.forename: R
authors.initials: R
authors.lastname: Kneen
authors.forename: M
authors.initials: M
authors.lastname: van der Knaap
authors.forename: Y
authors.initials: Y
authors.lastname: Crow
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging; D001927:Brain Diseases / Q000000981:diagnostic imaging / Q000235:genetics*; D002114:Calcinosis / Q000000981:diagnostic imaging / Q000235:genetics*; D002552:Cerebral Ventricles / Q000503:physiopathology*; D002648:Child; D002675:Child, Preschool; D024141:Collagen Type IV / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007969:Leukomalacia, Periventricular / Q000000981:diagnostic imaging; D008279:Magnetic Resonance Imaging; D008297:Male; D017354:Point Mutation; D014057:Tomography, X-Ray Computed
chemical_list: C547475:COL4A1 protein, human; D024141:Collagen Type IV