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Alpers–Huttenlocher syndrome: the role of a multidisciplinary health care team

Authors Saneto R

Received 18 April 2016

Accepted for publication 10 May 2016

Published 26 July 2016 Volume 2016:9 Pages 323—333


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 3

Editor who approved publication: Dr Scott Fraser

Russell P Saneto1,2

1Department of Neurology, University of Washington, 2Division of Pediatric Neurology, Seattle Children’s Hospital, Seattle, WA, USA

Abstract: Alpers–Huttenlocher syndrome (AHS) is a mitochondrial DNA-depletion syndrome. Age of onset is bimodal: early onset at 2–4 years and later adolescent onset at 17–24 years of age. Early development is usually normal, with epilepsy heralding the disorder in ~50% of patients. The onset of seizures is coupled with progressive cognitive decline. Hepatopathy is variable, and when present is a progressive dysfunction leading to liver failure in many cases. These features of seizures, cognitive degeneration, and hepatopathy represent the “classic triad” of AHS. However, most patients develop other system involvement. Therefore, although AHS is ultimately a lethal disorder, medical care is required for sustained quality of life. Frequently, additional organ systems – gastrointestinal, respiratory, nutritional, and psychiatric – abnormalities appear and need treatment. Rarely, cardiovascular dysfunction and even pregnancy complicate medical treatment. Optimal care requires a team of physicians and caretakers to make sure quality of life is optimized. The care team, together with the family and palliative care specialists, need to be in communication as the disease progresses and medical changes occur. Although the unpredictable losses of function challenge medical care, the team approach can foster the individual quality-of-life care needed for the patient and family.

Keywords: Mitochondrial depletion syndrome, polymerase gamma 1, clinical care, mitochondria

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