Aim: To assess the neurological and clinical long-term outcome of patients diagnosed with congenital hyperinsulinism (CHI) in Austria.
Patients and methods: Fourteen patients diagnosed with CHI (1978-2000) were investigated retrospectively by reviewing hospital records. Thirteen of them were evaluated with either a questionnaire or clinical, neurological and biochemical investigations (age at evaluation 4.2-25.5 years) in a follow-up study in the year 2004.
Results: Fifty percent of the patients needed a pancreatectomy. The prevalence of mental retardation was 31%, of epilepsy 15% and of pancreatic insufficiency 14%. None of our patients had developed diabetes mellitus. Additionally the prevalence of obesity was 43% in patients after pancreatectomy. Sixty-nine percent of the patients had no further treatment at the time of follow-up.
Conclusion: Despite early diagnosis and intensive treatment, 31% of the patients presented with mental retardation.