Sturge-Weber syndrome with hyposomatotropism

Case Report: Sturge-Weber syndrome is a rare disease (incidence of 1:20.000). Most likely caused by impaired proliferation of vessels while first trimester of pregnancy, its results a lepto-meningeal angiomatosis with naevus flammeus, glaucoma, and epilepsy. We report a case about a girl with Surge-Weber Syndrome, which was diagnosed at first year of life. While treatment epilepsy at our department, a growth velocity less than percentile 3 was noted. Growth hormone deficiency was confirmed by two GH-stimulations tests, magnetic resonance imaging did not show any malformation. Since human growth hormone (hGH) replacement therapy, an effective in reducing the deficit in height has been observed.

Conclusion: The prevalence of growth hormone deficiency normally is 0.03%, in combination with Sturge-Weber syndrome, the prevalence rises up to 0.54%. Central hypothyroidism has a prevalence of 0.0002 to 0.0005% normally, in combination with Sturge-Weber syndrome, the prevalence rises up to 2.4%. Consequently, while therapy of Sturge-Weber syndrome, it's important to know the prevalence of disease of the hypothalamic-pituitary-axis is 18 time higher than normally.