Pyruvat Dehydrogenase Deficiency – Physical Medicine and Rehabilitation Approach: A Case Report

Yuli Indah Kurnia, S.M Mei Wulan

2017

Abstract

Pyruvat dehydrogenase deficiency is a rare disorder of carbohydrate metabolism caused by a deficiency of one of the three enzymes in the pyruvat dehidrogenase complex. The commonest clinical signs of pyruvat dehidrogenase deficiency are neurodevelopmental delay and hypotonia with structural brain abnormalities. A 16 month-old female was consulted to our department with hydrocephalus, a history of seizures and developmental delay. The physical examination revealed that she had frontal bossing and a depressed nasal bridge. The head CT scan show that she had hydrocephalus non-communicans and hipoplasia corpus callosum. The laboratory result showed metabolic acidosis with an expanded anion gap. The surgical procedure (endoscopic third ventriculostomy) was performed by the Neurosurgery Department. A ketogenic diet was given by the Paediatric Department. The physical medicine and rehabilitation programs consisted of positioning, assistive turning, range of motion exercise, breathing exercises passively, and audio-visual tactile stimulation. Promoting growth and developmental milestones was our ultimate goal. After comprehensive physical medicine and rehabilitation management, there was an increase in functional transfer. Physical medicine and rehabilitation programs increase functional transfer and quality of life for children with pyruvat dehydrogenase deficiency. Comprehensive and long term multi-disciplinary management is needed to ensure better growth and development.

Paper Citation

in Harvard Style

Kurnia Y. and Wulan S. (2017). Pyruvat Dehydrogenase Deficiency – Physical Medicine and Rehabilitation Approach: A Case Report.In Proceedings of the International Meeting on Regenerative Medicine - Volume 1: IMRM, ISBN 978-989-758-334-6, pages 9-12. DOI: 10.5220/0007314500090012

in Bibtex Style

@conference{imrm17,
author={Yuli Indah Kurnia and S.M Mei Wulan},
title={Pyruvat Dehydrogenase Deficiency – Physical Medicine and Rehabilitation Approach: A Case Report},
booktitle={Proceedings of the International Meeting on Regenerative Medicine - Volume 1: IMRM,},
year={2017},
pages={9-12},
publisher={SciTePress},
organization={INSTICC},
doi={10.5220/0007314500090012},
isbn={978-989-758-334-6},
}

in EndNote Style

TY - CONF

JO - Proceedings of the International Meeting on Regenerative Medicine - Volume 1: IMRM,
TI - Pyruvat Dehydrogenase Deficiency – Physical Medicine and Rehabilitation Approach: A Case Report
SN - 978-989-758-334-6
AU - Kurnia Y.
AU - Wulan S.
PY - 2017
SP - 9
EP - 12
DO - 10.5220/0007314500090012