Objective: To investigate the clinical features and genetic characteristics of HRAS-associated Costello Syndrome.
Method: Characteristics of clinical data and gene mutation of two cases Costello Syndrome in XX hospital were retrospectively analyzed. The related literature was searched by using search terms HRAS or Costello Syndrome.
Result: Both patients were presented with mental retardation, growth retardation,postnatal feeding difficulties and characteristic facial appearance,and carried the same HRAS gene mutation site Exon2 c.34g>a P. (Gly12Ser).Moreover,the patient 1 had seizure at toddler age, and patient 2 had neonatal intractable hypoglycemia.A total of 18 articles in English and 2 articles in Chinese were retrieved. The main clinical features of 20 patients included feeding difficulties, characteristic facial appearance, mental retardation, growth retardation,and accompanied with cardiovascular, skeletal muscle or central nervous system abnormalities.
Conclusion: Costello syndrome is a rare multisystem disorder accompanied by tumor predisposition.It is vital to comfirm the diagnosis through the identifcation of a specifc germline mutation in the HRAS. In addition,early intervention treatment and tumor monitoring are necessary.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology