Presentation
Severe frontal headache and photophobia, on and off, for four days. No past history. The pediatric neurologist requested MRI of the brain to investigate.
Patient Data
Multiple focal areas of high signal intensity in T2 and FLAIR sequences are seen in the basal ganglia region and cerebellum, with no significant enhancement. Bilateral mild optic nerve enlargement, more on the left side, suggestive of optic nerve gliomas. Mild enlargement of the right temporal fossa compared to the left side, extending to the right orbit without obvious secondary proptosis in keeping with right sphenoid wing dysplasia.
CT done at the same day showed absent right sphenoid wing. The left optic nerve appears thickened.
Case Discussion
On clinical examination, the patient has multiple hyperpigmented macules (café au lait spots) on her face, abdomen, back, hands and feet. Ophthalmology examination revealed multiple iris Lisch nodules in both eyes. The clinical and radiological findings are suggestive of neurofibromatosis type I.
Neurofibromatosis type 1 is the most common phakomatosis. It is an autosomal dominant disorder. It is a multisystem disease with wide ranging variety of presentations and severity 1.
Unable to process the form. Check for errors and try again.