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Fig. 2 | Acta Epileptologica

Fig. 2

From: Genetic variant reanalysis reveals a case of Sandhoff disease with onset of infantile epileptic spasm syndrome

Fig. 2

Cranial MRI of the case at age 22 months. a, b T2 weighted images; c, d T1 weighted images. Multiple symmetrical patches of slightly longer T1 and slightly longer T2 signals were seen in the white matter of the bilateral cerebral hemispheres and bilateral basal ganglia nuclei. Myelination of white matter is delayed. The corpus callosum is slender. The ventricular system, sulcus, fissure and pool are widened. e Fundus film of the case. The borders of the optic discs of both eyes were clear and pale, and the vascular pathways were acceptable, with cherry red spots visible in the macula. (white arrows)

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