ECE2014 Poster Presentations Paediatric endocrinology (33 abstracts)
Short stature and carnitine deficiency: the hidden connection
Ioana Bodescu 1 , Aurora Constantinescu 1 , Marilena Alexianu 2 , Jeanina Idriniceanu 1 , Ioana Vasiliu 1 , Adina Manolachie 1 , Alina Daniela Fadur 1 , Letitia Leustean 1 , Voichita Mogos 1 & Carmen Vulpoi 1
1University of Medicine and Pharmacy ‘Gr. T. Popa’ Iasi, Iasi, Romania; 2Colentina Hospital, Bucharest, Romania.
Introduction: Lipid storage myopathy (LSM) is characterized by increased lipid droplets in muscle fibers. Primary carnitine deficiency is the most frequent cause of LSM, clinical presentation ranging from asymptomatic to progressive muscle weakness or cardiomyopathy, carnitine supplementation being effective with remission of symptoms.
Case report: In February 2007 R.A. born in 1996 presented progressive muscle weakness with elevated muscular enzymes (LDH=1155 UI/ml, n=125–234, and CPK=1082 UI/ml, n=25–195). Starting from a muscular biopsy, which suggested polymyositis, a glucocorticoid trial was initiated with partial amelioration followed by clinical relapse. Development of Cushingoid syndrome and growth retardation (height 123 cm, −3 s.d.; weight 22 kg, −2.5 s.d.; normal parental heights) determined endocrinological evaluation which revealed normal IGF1 (172 ng/ml, n=111–551), and basal GH (3.3 μUI/ml) with response at stimulation (stimulated GH 125 μUI/ml) and delayed bone age of 8.5 years. Functional pituitary evaluation was normal. Reevaluation by muscular biopsy revealed presence of increased lipid droplets in type 1 muscle fibers suggesting LSM. Carnitine supplementation was started in December 2008 and continued without pause (1 g/day) with progressive clinical improvement and normalization of muscular enzymes.
Absence of GH deficiency justified expectative but the stagnant height after 6 months was an argument for hGH therapy, which was started in October 2008 followed by a satisfactory growth rate (~0.5 cm/month). Reevaluation in July 2013 revealed Tanner pubertal stage IV, height of 153 cm (−1.95 s.d.) and delayed bone age of 14 years.
Conclusion: We report a patient with short stature and LSM who responded well to hGH therapy and carnitine supplementation. To our knowledge, children with LSM do not usually associate short stature or GH deficiency. Impact of hGH therapy on body composition and muscle structure in LSM cases needs to be further evaluated.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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