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NF-1 and optic nerve glioma – additional opinion

5-year-old boy with diagnosis of neurofibromatosis type 1 underwent ophthalmological evaluation that showed reduction in visual acuity and reduction of the bilateral visual field. MRI showed presence of a big expansive lesion and of temporopolar arachnoid cyst. The treating doctors recommended an urgent surgery in order to reduce the cerebral hypertension. In the expert's opinion, after having seen the images, the arachnoid cyst has not changed that much, and probably has little impact or effect, and therefore meanwhile no surgery is warranted.

Child suffering from NF-1 and optic nerve glioma

5-year-old boy with diagnosis of neurofibromatosis type 1 underwent ophthalmological evaluation that showed picture of slight reduction in visual acuity of the right eye and severe hypovision of the left eye with slight reduction of the bilateral visual field. MRI showed presence of a big expansive lesion and of right temporopolar arachnoid cyst. The treating doctors recommended an urgent surgery in order to reduce the cerebral hypertension.

Neurofibromatosis type 1 - Ophthalmologic Exam is recommended

5-year-old boy was diagnosed with neurofibromatosis type 1 (NF1) eight months after birth. He has displayed café-au-lait spots, axillary freckling, macrocephaly, sphenoid dysplasia, brain hamartomas, right temporal arachnoid cyst, and optic glioma. Visual evoked potentials showed evidence of bilateral functional deficit.

Demyelinizing Disease

47-year-old female with a diagnosis of Multiple Sclerosis ,who suffers from progressive tetraparesis, more pronounced in the lower extremities. Her treatment included mitoxantrone and Interferon-beta treatment, both were discontinued because of side effects. Her movement difficulties, due to the left lower limb rigidity, are increasing progressively.

Optic Neuropathy

Child with progressive exotropia secondary to the profound vision loss that appears to be to an optic neuropathy. The expert recommends to obtain additional studies in order to exclude potential diagnosis such as glioma, pathological disc edema, optic nerve drusen or dominant optic atrophy OPA-1 gene related.