ESPE Abstracts

Background: Kearns-Sayre syndrome (KSS, OMIM #530000) is a rare disease belonging to a heterogeneous group of mitochondrial cytopathies. KSS is caused by deletions and/or duplications in the mitochondrial DNA, which lead to the dysfunction of the respiratory chain and to disorders in tissues with a high energy demands (muscle, nervous system).

Case presentation: The girl was admitted to the hospital at the age of 13 years with the suspision of KSS. Progressive body mass deficiency has been noticeable since the age of 4–5 years. Beginning of the eye movements disorders were difficult to ascertain. Neurological examination revealed limitation in both eyes abduction, significantly reduced upward movement, bilateral ptosis, without cerebellar symptoms, and features of myopathy or neuropathy. MRI of the head and serum lactate levels were normal. EMG revealed discrete myogenic features. Pubertal stage was assest as A1, P1, Th1. Retinal pigmentary retinopathy characteristic for KSS was found. Somatotropic pituitary insufficiency was diagnosed. At the age of 14 years rhGH treatment was started (Omnitrope) (height 149.3 cm; <3rd percentile, weight 26.5 kg, bone age 10 years, the rate of growth 3.4 cm/year) which ended at the age of 16 years 4/12 (height 164.2 cm, ~50 percentile). The current height at the age of 17 years and 2/12 is 165.9 cm (>50 percentile). Molecular studies confirmed the presence of the common deletion in mtDNA.

Conclusion: i) KSS is usually detected after the diagnosis of a variety of endocrine disorders, ii) clinical course of the disease is variable, but the growth deficiency is dominant in childhood, iii) the final confirmation of the diagnosis KSS may be set by molecular studies, iv), PCR can be used as a quick and easy method for the analysis of mtDNA rearrangements, v) In our patient improvement of growth velocity was observed.