PMC5121317_01
a: Brain TC scan performed when patient was 28 years old. Section at level of deep gray matter didn't show the bilateral symmetric thalamic altered signal typical of the infantile form.. b: Electron microscopy of the rectal biopsy at diagnosis showed cytoplasmic membranous bodies in neurones of the myenteric plexus (3000 x magnification).. c: Sagittal T1-weighted brain MRI showing a mild cerebellar atrophy at 25th year of follow-up.. d-f: Rectal biopsy 25 years after the diagnosis. At ultrastructural level, neuronal inclusions were pleiomorphic, composed of single or multiple layers of concentric outer membranes surrounding inner components of short, straight or curved membranes as well as membranous cytoplasmic bodies (3000 x, 7000 x and 30,000 X magnification, respectively).
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Electromyography demonstrated signs of denervation in lower limbs, whereas nerve conduction study and brain CT scan were normal (Fig. 1a). On rectal biopsy, the presence of storage material represented by membranous cytoplasmic bodies was detected in neurons of the myenteric plexus (Fig. 1b). Sensory, cerebellar and autonomic functions were spared and brain magnetic resonance imaging (MRI) showed only mild cerebellar atrophy (Fig. 1c). A new rectal biopsy showed the identical presence of storage material in autonomic neurons (Fig. 1d-f).