2017 Jul;59(7):680-689. doi: 10.1111/dmcn.13424. Epub 2017 Mar 20.

Author information

1
Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
2
Department of Pediatric Infectious Diseases and Immunology, Amalia Children's Hospital and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
3
Department of Pediatric Pulmonology, Amalia Children's Hospital and Canisius Wilhelmina Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.
4
Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
5
Department of Rehabilitation Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
6
Department of Pediatric Oncology and Hematology, Sophia Children's Hospital, Erasmus Medical Centre, Rotterdam, the Netherlands.

Abstract

Ataxia-telangiectasia is a rare, neurodegenerative, and multisystem disease, characterized by cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, progressive respiratory failure, and an increased risk of malignancies. It demands specialized care tailored to the individual patient's needs. Besides the classic ataxia-telangiectasia phenotype, a variant phenotype exists with partly overlapping but some distinctive disease characteristics. This guideline summarizes frequently encountered medical problems in the disease course of patients with classic and variant ataxia-telangiectasia, in the domains of neurology, immunology and infectious diseases, pulmonology, anaesthetic and perioperative risk, oncology, endocrinology, and nutrition. Furthermore, it provides a practical guide with evidence- and expert-based recommendations for the follow-up and treatment of all these different clinical topics.

PMID:
 
28318010
 
DOI:
 
10.1111/dmcn.13424
[Indexed for MEDLINE] 
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