Rett Syndrome: Treatment with IGF-I, Melatonin, Blackcurrant Extracts, and Rehabilitation

Reports

Llorente, David¹  Casteleiro, Nerea²  Devesa, Ana³  Carrillo, María⁴  Devesa, Jesús⁵  Devesa, Olga⁶ 

[1] Author to whom correspondence should be addressed;EINA, Medical Center Foltra, 15886 Teo, Spain;Physiotherapy, Medical Center Foltra, 15886 Teo, Spain;Psychomotricity, Medical Center Foltra, 15886 Teo, Spain;Scientific Direction, Medical Center Foltra, 15886 Teo, Spain;Speech Therapy, Medical Center Foltra, 15886 Teo, Spain

关键词: MeCP2;    IGF-I;    melatonin;    blackcurrant extracts;    cyclic glycine-proline;    oxidative stress;    Speech Therapy;    Neurostimulation;    physiotherapy;    EINA;   

DOI  :  10.3390/reports1020014

学科分类：医学（综合）

来源: mdpi

【 摘 要 】

(1) This study describes the good evolution of a 6-year-old girl genetically diagnosed (R106X) with Rett syndrome (RTT), after having been treated with IGF-I, melatonin (MT), blackcurrant extracts (BC) and rehabilitated for 6 months. (2) The patient stopped normal development in the first year of age. The patient showed short stature and weight and fulfilled the main criteria for typical RTT. Despite her young age, there was pubic hair (Tanner II), very high plasma testosterone, and low levels of plasma gonadotrophins. There were no adrenal enzymatic deficits, and abdominal ultrasound studies were normal. The treatment consisted of IGF-I (0.04 mg/kg/day, 5 days/week, subcutaneous (sc)) for 3 months and then 15 days of rest, MT (50 mg/day, orally, without interruption) and neurorehabilitation. A new blood test, after 3 months of treatment, was absolutely normal and the pubic hair disappeared (Tanner I). Then, a new treatment was started with IGF-I, MT, and BC for another 3 months. In this period, the degree of pubertal development increased to Tanner III (pubic level), without a known cause. (3) The treatment followed led to clear improvements in most of the initial abnormalities, perhaps due to the neurotrophic effect of IGF-I, the antioxidant effects of MT and BC, and the cerebral increase in the cyclic glycine-proline (cGP) achieved with administration of BC. (4) A continuous treatment with IGF-I, MT, and BC appears to be useful in RTT.

【 授权许可】

CC BY