Muscle eye brain disease: case report

The objective of this presentation is to describe a case of an Italian child with muscle eye brain (MEB) disease. It is known from the literature that MEB is a rare congenital muscular dystrophy, which until now has been described mostly in Northern European countries, especially Finland. It is characterized by hypotonia, muscular weakness, and learning disability. The visual impairment consists in severe myopia, retinal degeneration, and optic atrophy. MRI shows brain malformation of a cobblestone-like cortex and hypoplasic pons; the visual evoked potentials are significantly high. A child, diagnosed with Santavuori disease, presented at our centre when she was 7 months old. The baby was very hypotonic and she was not rolling, nor sitting, and was not interested in anything except in her hands and feet. Ocular findings showed a retinal detachment in the left eye and a corioretinic atrophy in the right one. A rehabilitative project commenced which focused on sensory (especially visual) functions, started. The aim was to integrate sensory and motor skills. In these two years, despite the slowness of the progresses, the child has made quite a few improvements. She is now 33 months old and is able to go on all fours and to make a few steps alone, especially to reach her mother. She now appears more motivated to explore the environment to look for her preferred toys; she also understands and responds to simple requests made by the therapist. She is able to organize the first simple constructive movements of the hands, even if she still prefers to play on the light-box. She is increasing in using both hands and recently started to play with a doll. She also began to show interest in images on an adapted screen of a personal computer and recognized an image imitating the movement on the screen. In conclusion, even if psychomotor delay is still present, we think that early rehabilitation is important to help the child have the best quality of life compatible with the disease.