Rett Syndrome: Treatment with IGF-I, Melatonin, Blackcurrant Extracts, and Rehabilitation
| Autor: | Olga Devesa, Maria Carrillo, Ana Devesa, Cristina González, Nerea Casteleiro, David Llorente, Jesús Devesa |
|---|---|
| Přispěvatelé: | Universidade de Santiago de Compostela. Departamento de Fisioloxía |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Rett syndrome Speech Therapy medicine.disease_cause Short stature MECP2 Melatonin 03 medical and health sciences 0302 clinical medicine EINA Internal medicine medicine Blood test Electrical and Electronic Engineering Neurostimulation Physiotherapy Testosterone MeCP2 medicine.diagnostic_test business.industry Blackcurrant extracts medicine.disease Atomic and Molecular Physics and Optics Pubic hair IGF-I Cyclic glycine-proline 030104 developmental biology medicine.anatomical_structure Endocrinology Oxidative stress medicine.symptom business 030217 neurology & neurosurgery medicine.drug |
| Zdroj: | Minerva: Repositorio Institucional de la Universidad de Santiago de Compostela Universidad de Santiago de Compostela (USC) Minerva. Repositorio Institucional de la Universidad de Santiago de Compostela instname |
| Popis: | (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. |
| Databáze: | OpenAIRE |
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