S Wolny1, R McFarland, P Chinnery, T Cheetham. 1. Department of Paediatrics, Royal Victoria Infirmary, Newcastle Upon Tyne, UK. Susanne.Wolny@nuth.nhs.uk
Abstract
AIM: To review the height and weight of children with mitochondrial disease attending our supra-regional service. METHODS: This was a retrospective audit of cross-sectional data. Height and weight measurements were available in 24 children and adolescents (median 7.86 years; range 1.76-20.5 years) who all had a confirmed diagnosis of mitochondrial disease. Values were converted to SD scores using UK reference data. RESULTS: Patients with mitochondrial disease were short with an overall SD score of -1.97 (95% confidence intervals -2.72 to -1.23 SD). Patients were also thin with a relatively low BMI SDS of -1.07 (95% confidence intervals -1.69 to - 0.07 SD), which fell with advancing years (r =-0.7; p < 0.000). CONCLUSION: Short stature and a progressive reduction in body mass index (BMI) are features of mitochondrial disease in childhood. The mechanisms underlying the abnormal growth in these patients need to be studied in more detail.
AIM: To review the height and weight of children with mitochondrial disease attending our supra-regional service. METHODS: This was a retrospective audit of cross-sectional data. Height and weight measurements were available in 24 children and adolescents (median 7.86 years; range 1.76-20.5 years) who all had a confirmed diagnosis of mitochondrial disease. Values were converted to SD scores using UK reference data. RESULTS:Patients with mitochondrial disease were short with an overall SD score of -1.97 (95% confidence intervals -2.72 to -1.23 SD). Patients were also thin with a relatively low BMI SDS of -1.07 (95% confidence intervals -1.69 to - 0.07 SD), which fell with advancing years (r =-0.7; p < 0.000). CONCLUSION: Short stature and a progressive reduction in body mass index (BMI) are features of mitochondrial disease in childhood. The mechanisms underlying the abnormal growth in these patients need to be studied in more detail.
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