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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.

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.

Glioblastoma

55-year-old female was diagnosed with glioblastoma after suffering increasing headaches, and was treated with radiation with concurrent Temodal. MRI exam that was performed after 2 additional cycles of CCNU showed tumor progression. The expert recommends different further treatment options.

Diffuse Intra-Axial expansive Lesion of the Enchephalic Trunk

7-year-old boy presented with general asthenia, hand tremors, anxiety and episodes of diffuse headache. Exam noted facial asymmetry and symptoms progressed to vomiting. The patient had ataxia, dyarthria and facial weakness. CT and MRI revealed a expansile lesion of the brainstem and signs of obstructive hydrocephalus and possible leptomeningeal dissemination. Steriods improved clinical symptoms. The patient started an experimental treatment with Nimotuzumab, and Radiation therapy is planned to continue with Nimotuzumab.

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.

Anaplastic Astrocytoma in the left temporal lobe

65-year-old male experienced loss of consciousness, and a CT scan showed a left temporal mass which was confirmed by MRI. The patient underwent Stereotacti biopsy of mass, and Histological examination gave a diagnosis of anaplastic astrocytoma. He started chemoradiation with fotemustine (nitrosourea alkylating agent). Repeated MRI showed progression with mass effect, mild uncal herniation and enlarging ventricles. He has stable expressive aphasia and hemisyndrome, lethargy and decreased motivation. His treatment was switched from phenobarbital to levetiracetam.

 

Diffuse Intra-Axial expansive Lesion of the Enchephalic Trunk not surgically investigated _2

7-year-old boy was diagnosed with diffused intra-axial brainstem expansive lesion. He underwent radiation therapy but his physical condition is worrisome. His relatives ask the expert's opinion about experimental therapy consists of combination Antineoplaston and radiation therapy for the treatment of gliomas in children, that is now in clinical trial. The expert doesn't recommend it.

Diffuse Intra-Axial expansive Lesion of the Enchephalic Trunk not surgically investigated_4

7-year-old boy with prodrome of right-sided and right face weakness, gait ataxia, and intermittent headaches. Head computed tomography demonstrated a tumor at the brainstem/posterior fossa, and then MRI confirmed a diffuse intrinsic pontine glioma (a typical brainstem glioma). Following initiation of dexamethasone (Decadron, steroid for vasogenic edema), the child has started experimental treatment with the medicine nimotuzumab to be followed with conventional radiotherapy.

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.