Clinical and radiological evaluation with Neurofibromatosis Type 1 and investigation of patients with growth retardation

Clinical and radiological evaluation with Neurofibromatosis Type 1 and investigation of patients with growth retardation Purpose: : In this study, the purpose was to assess the clinical and radiological signs and complications and to evaluate the relationship of hormonal levels between children with short stature and others among children who were following with NF-1 diagnosis. Material and Methods : In this study, there are 48 patients diagnosed as NF-1 according to NIH 1998 criterias who were following regularly at Çukurova university department of pediatric neurology clinic from january 2012 to january 2013. Growth follow-up (body weight, length, head circumference measurement), arterial blood gas sampling, physical examination were done by the same physician according to standarts. Cases were evaluated by a pediatric neurologist in terms of NF-1 signs and also an optalmologist, a pediatric cardiologist, a pediatric endocrinologist and a physicologist in terms of complications and signs of NF-1. 5 cc blood sample was taken from all patients and FSH,LH,testosteron,estrogen,TSH,FT4,FT3,GH, IGF-1 and IGFBP-3 levels were measured. Findings: Mean age of cases was 9.57 years. 18 of cases were female(37.5), 30 of cases were male (% 62.5). 32 of patients (% 66.7) had hereditary NF-1, 16 of patients (% 33.3) had sporadic NF-1, 8 of hereditary cases (% 26) had maternal inheritance, 23 of hereditary cases (% 74) had paternal inheritance. There was no significant relevance between the inheritence and age (p>0.05). there were signifant relevance between hyperintensity at MRI images and inguinal freckles, macrocephaly and short stature,epilepsy and mental retardation, puberty and bone dysplasia,bone dysplasia and plexiform neurofibroma (p<0.05). 12 of patients (% 25) had short stature. Among them, 7 of cases (% 58.3) were at prepubertal stage, 5of cases (% 41.7) were at pubertal stage. 4 males at prepubertal stage and 3males at pubertal stage had short stature. There were a significant relevance between the short stature at pubertal ages and ıgf1 levels (p<0.05), however there were no significant relevance between the malnutrition and short stature and IGF1 levels (p>0.05).there were significant relevance between short stature at prepubertal ages and ft4 levels, short stature at prepubertal ages and TSH levels (p<0.05). Conclusion : Even if there were relevance between some clinical and radiological findings, we don?t know the pathophysiology and mechanisms. Furthermore, there were some relevances between some signs like short stature and macrocephaly that are not included at diagnostic criterias of NF-1. Short stature at pubertal ages and IGF-1 levels showed significant diffference. Since this difference is not associated with malnutrition, hormonal factors may play a role at the etiology of short stature at NF-1 patients. We need more researchs to understand the mystery of NF-1 which has a great number of gene family. Key words : Neurofibromatosis type 1, prevalence, short stature, macrocephaly,growthhormones.