Childhood presentation of COL4A1 mutations.

Developmental Medicine and Child Neurology
Siddharth ShahPhilip Jardine

Abstract

To describe the clinical and radiological features of four new families with a childhood presentation of COL4A1 mutation. We retrospectively reviewed the clinical presentation. Investigations included radiological findings and COL4A1 mutation analysis of the four cases. Affected family members were identified. COL4A1 mutation analysis was performed in all index cases and, where possible, in affected family members. The three male and one female index cases presented with recurrent childhood-onset stroke, infantile hemiplegia/spastic quadriplegia, and infantile spasms. Additional features such as congenital cataracts and anterior segment dysgenesis were present. Microcephaly and developmental delay/learning difficulties were present in three cases. Three cases had one or more family member affected in multiple generations, with a total of 11 such individuals identified. The clinical features showed a wide intrafamilial variation. Magnetic resonance imaging (MRI) showed bilateral white matter change in all cases, except in one mutation-positive family member. Unilateral or bilateral porencephaly was present in cases with infantile hemiplegia, and a diagnosis of clinical stroke was supported by the presence of intracerebral haemor...Continue Reading

References

May 21, 2005·Science·Douglas B GouldSimon W M John
Aug 19, 2005·Journal of Medical Genetics·G BreedveldG M S Mancini
Dec 24, 2005·Annals of Neurology·Marjo S van der KnaapPeter Heutink
Apr 7, 2006·The New England Journal of Medicine·Douglas B GouldSimon W M John
Mar 24, 2007·Stroke; a Journal of Cerebral Circulation·Katayoun VahediMarie-Germaine Bousser
Aug 19, 2007·Annals of Neurology·Igor SibonCyril Goizet
Dec 28, 2007·The New England Journal of Medicine·Emmanuelle PlaisierPierre Ronco
Feb 6, 2009·Annals of Neurology·Linda S de VriesGrazia Mancini
May 30, 2009·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Siddharth ShahPhilip Jardine
Apr 14, 2010·Archives of Ophthalmology·Isabelle CoupryCyril Goizet
Jun 19, 2010·Stroke; a Journal of Cerebral Circulation·Silvia Lanfranconi, Hugh S Markus
Sep 8, 2010·American Journal of Medical Genetics. Part a·Emmanuelle PlaisierPierre Ronco
Apr 19, 2011·Neuropediatrics·R J VermeulenM S van der Knaap

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Citations

May 28, 2014·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Apostolos PapandreouSophia M Varadkar
Jan 1, 2014·Journal of Perinatology : Official Journal of the California Perinatal Association·E ColinD Bonneau
Jan 28, 2016·Scientific Reports·Marcel V AlaviDouglas B Gould
Feb 27, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Marije E C MeuwissenGrazia M S Mancini
Oct 11, 2016·Neurologic Clinics·Albert S Favate, David S Younger
Oct 31, 2016·Matrix Biology : Journal of the International Society for Matrix Biology·Marion Jeanne, Douglas B Gould
Oct 11, 2016·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Mohamed Ali AbdelkaderRasha W Abdelrahman
Dec 17, 2014·Developmental Medicine and Child Neurology·Anthony R HartSantosh R Mordekar
Jul 19, 2017·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Sally KellettDamien Noone
Feb 27, 2017·Disease Models & Mechanisms·Mao MaoDouglas B Gould
Sep 6, 2019·International Journal of Molecular Sciences·Vo Van GiauSang Yun Kim
Oct 6, 2020·Frontiers in Neurology·Pasquale ScoppettuoloGilles Naeije
Apr 30, 2016·Journal of Neurology·Xavier AyrignacPierre Labauge
Jan 29, 2019·Stroke; a Journal of Cerebral Circulation·Donna M FerrieroUNKNOWN American Heart Association Stroke Council and Council on Cardiovascular and Stroke Nursing
Aug 17, 2019·Journal of Developmental Biology·Philippa Harding, Mariya Moosajee
Apr 25, 2018·Fluids and Barriers of the CNS·Midrelle E NoumbissiMonique F Stins
May 16, 2018·Human Genome Variation·Yota SatoKenji Kurosawa
Feb 27, 2021·Frontiers in Neurology·Veronka HorberKate Himmelmann
Mar 20, 2021·The Indian Journal of Radiology & Imaging·Siddharth M Shah, Drushi D Patel
Apr 11, 2021·European Journal of Human Genetics : EJHG·Moran Hausman-KedemAviva Fattal-Valevski
Mar 19, 2019·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Joel FlussStéphane Chabrier
May 16, 2021·Human Genome Variation·Kohei MutoYuishin Izumi
Jun 9, 2021·Human Mutation·Alan MaRobyn V Jamieson
Aug 17, 2021·Turkish Journal of Physical Medicine and Rehabilitation·Orhan GüvenerEmine Arzu Kanık

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