COL4A1-Related Disease: Raised Creatine Kinase and Cerebral Calcification as Useful Pointers

Davide Tonduti; Anna Pichiecchio; Roberta La Piana; John H. Livingston; Daniel A. Doherty; Anirban Majumdar; Susan Tomkins; Manuele Mine; Mauro Ceroni; Ivana Ricca; Umberto Balottin; Simona Orcesi

doi:10.1055/s-0032-1325116

Neuropediatrics, Table of Contents

Neuropediatrics 2012; 43(05): 283-288
DOI: 10.1055/s-0032-1325116

Short Communication

Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

COL4A1-Related Disease: Raised Creatine Kinase and Cerebral Calcification as Useful Pointers

Authors

Davide Tonduti

¹Child Neurology and Psychiatry Unit, C. Mondino National Institute of Neurology Foundation, IRCCS, Pavia, Italy
Anna Pichiecchio

²Neuroradiology Unit, C. Mondino National Institute of Neurology Foundation, IRCCS, Pavia, Italy
Roberta La Piana

³Department of Neuroradiology, Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada
John H. Livingston

⁴Department of Paediatric Neurology, Leeds General Infirmary, Leeds, United Kingdom
Daniel A. Doherty

⁵Department of Paediatrics, University of Washington, Seattle Children's Hospital, Seattle, Washington, United States
Anirban Majumdar

⁶Department of Paediatric Neurology, Bristol Children's Hospital, Bristol, United Kingdom
Susan Tomkins

⁷Department of Clinical Genetics, St Michael's Hospital, Bristol, United Kingdom
Manuele Mine

⁸Laboratoire de Génétique Neurovasculaire, Groupe hospitalier Lariboisière - Fernand Widal, Hôpital Lariboisière, Paris, France
Mauro Ceroni

⁹Department of Clinical Neurology, C. Mondino National Institute of Neurology Foundation, IRCCS, Pavia, Italy
Ivana Ricca

⁹Department of Clinical Neurology, C. Mondino National Institute of Neurology Foundation, IRCCS, Pavia, Italy
Umberto Balottin

¹Child Neurology and Psychiatry Unit, C. Mondino National Institute of Neurology Foundation, IRCCS, Pavia, Italy

¹⁰Department of Public Health, Neuroscience, Experimental and Forensic Medicine, Unit of Child Neurology and Psychiatry, University of Pavia, Italy
Simona Orcesi

¹Child Neurology and Psychiatry Unit, C. Mondino National Institute of Neurology Foundation, IRCCS, Pavia, Italy

Abstract

Background Mutations in COL4A1 are responsible for a spectrum of clinical phenotypes characterized by neurological, ocular, and renal involvement. Neurological features are the most prominent but as such are rather nonspecific.

Case Presentation Here, we report three new cases that, like five patients we previously described, show the novel common finding of raised creatine kinase (CK) concentration.

Conclusion Raised CK concentration, in addition to intracranial calcification, is to be considered another useful pointer to a final diagnosis of COL4A1-related disease.

Keywords

COL4A1 - cerebral calcification - creatine kinase - cataract

Full Text

References

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