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case_images: Electron microscopy of the sural nerve of patient I. Electron microscopy showed neurodegenerative processes and inclusions in the Schwann cells of myelinated axons of the sural nerve (A-D). Some of these inclusions can be identified as myelin-like figures with concentric lamellar material and periodicity of about 10 nm (A). The inclusions are often mixed with glycogen-like granules (C). Membranous vacuolized and optically empty bodies, as well as isolated irregularly contoured electron-dense and sharply delimitable "tufa"-like inclusions (B,C). These inclusions lead to the suspicion of a lysosomal storage disease.
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case_images: F1
case_images: MRI Images. Cranial MRI of patient I at the age of 10 years. (A,B) Flair, (C) T1, (D) Flair, (E,F) T2. MRI shows severe atrophy of the cerebral cortex especially of the occipital cortex and a severe atrophy of the cerebellar hemispheres with a loss of the cerebellar vermis, a thin corpus callosum, and optical atrophy.
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case_images: F2
case_images: In particular, the MRI revealed an atrophy of the occipital cortex accentuated in the occipitotemporal medial gyrus, an almost entire loss of the cerebellar vermis and a significant loss of substance of the cerebellar hemispheres and a temporopolar dilation of the subarachnoid cavity and corpus callosum hypoplasia (Figure 2).
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case_images: Phenotype of patient I at the age of 15 years. (A) Severe global muscular hypotonia, scoliosis, talipes equinus. (B) Facial dysmorphias: Long drawn face with a high forehead, hypertelorism and exophtalmus, opened mouth, macroglossia, gingiva hyperplasia with teeth anomalies, small philtrum, and prominent eyebrows.
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case_images: F3
case_images: Moreover, he has a vertical and horizontal gaze palsy and hypertelorism (Figure 3).
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