ESPE Abstracts

Prader-Willi syndrome (PWS), a multisystem disorder, results of the absence of expression of paternal genes from chromosome 15q11.2-q13; it occurs with the prevalence of 1/10000-1/30000 in different populations. In real clinical practice PWS still remains a challenge for doctors, especially in resource-limited settings. We describe clinical course in 10 pediatric PWS patients (3M; 7F) aged 7,4±3,3 years (1,7÷12,3), all have microdeletion of paternally inherited 15q11.2-q13 region. Mean follow-up time is 4,1±2,6 years (0,5÷7,6). In all mothers their gestational course was remarkable for intrauterine hypoxia. Five term babies (1M; 4F) had IUGR. C-section was done in 6/10 mothers. All babies developed severe muscle hypotonia soon after birth and needed feeding tubes; boys had chriptorchidism. All patients were examined by neurologists and clinical geneticists, however, no one baby was send to PWS molecular diagnosis as neonate. The mean age of PWS genetic diagnosis in our group was 2,4±1,9 years (0,4÷6,3). All children had facial dysmorfism, hypotonia and speech delay. The mean age of the first visit to pediatric endocrinologist was 3,2±1,6 years (0,5÷5,4), all patients were overweight or obese. In 2 children growth hormone stimulation tests were performed and confirmed growth hormone deficiency; bone age (BA) was delayed in all studied PWS cases. Five patients are under levothyroxine replacement and two are put on metformin due to impaired glucose tolerance; orchidopexy was done in 3 boys. Mean age of GH initiation was 5,2±2,9 years (1,0÷11,8). The starting daily GH dose was 1,1±0,4 mg/m². After first year on GH growth velocity (GV) was 10,7±1,1 cm/year. Average time of GH treatment was 1,9±1,2 years. In 5/10 children GH was spopped due to high IFG-1 level, BA progression (isolated pubarche in girls) or high metabolic risks. The treatment was restarted in 1,2±0,4 years (GH daily dose 0,8±0,4 mg/m²), as growth velocity was poor, weight was progressing and eating behavior control became much more difficult, also hypotonia and speech problems got worse without GH. Polysomnography was done in 1 girls due to apnoae episodes under GH interruption. The mean height-SDS, BMI-SDS and IGF-1-SDS have been improved under GH treatment. Our experience demonstrates poor awareness and lack of knowledge about PWS in different pediatric specialists. Limitations in genetic and other diagnostic facilities worth patients quality- of-life and require medical and social appeal for special care system creation for PWS patients.