Abstract
(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.
Highlights
Rett syndrome (RTT), OMIM #312750, was first described by the Austrian doctor Andreas Rett, who gave his name to this serious neurological affectation [1], the main clinical characteristics of which were later described in 1983 [2]
This study analyzes the evolution of a six-year-old girl who met the main criteria required for the typical diagnosis of Rett syndrome, established in 2010 by the RettSearch Consortium [11]
The patient showed many of the supportive criteria established by this group [11], and there was a genetic confirmation of the existence of a mutation in the MECP2 gene, mainly responsible for the development of this syndrome, present in 1:10,000 females and the second known cause of important intellectual disabilities in them
Summary
Rett syndrome (RTT), OMIM #312750, was first described by the Austrian doctor Andreas Rett, who gave his name to this serious neurological affectation [1], the main clinical characteristics of which were later described in 1983 [2]. As previously described, the vast majority of patients with Rett syndrome undergo a mutation in the MECP2 gene, which is key in brain development and normal brain function, given that it affects a large number of genes involved in the formation of synapses and brain plasticity, protein synthesis, mitochondrial function, oxidative stress, lipid metabolism, or the Akt/mTOR cell survival pathway, it is logical that the therapeutic attempts for the treatment of this syndrome are directed primarily towards gene therapy, directly targeting the MECP2 gene or producing recombinant hMeCP2 protein, or acting directly downstream MECP2, using neurotrophic factors, or using drugs which could normalize the neurotransmitter systems affected by MECP2 mutation, or, in the last instance, trying to correct some of the existing disabilities manifested in the syndrome (see [27,28], for a detailed review) Some of these treatments have been tested in clinical trials without significant normalization of the clinical picture of RTT; some parameters analyzed in a clinical trial in which insulin-like growth factor 1 (IGF-I) was used for the treatment of thirty girls with RTT worsened, and some adverse events were observed [29], in this trial, improvements in stereotypic behavior and social communication were observed [29]. We did not obtain a complete regression of the symptoms observed at admission, most of them disappeared or decreased clearly during treatment and the patient continues to improve three months after discharge
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
