The Eye Altering
Pathlet 009
Crystal Worsena '15
with the pathology team

These pathlets are edutainment. This site collects no information about visitors, and cannot substitute for your own doctor's care. There are many questions without clear right-or-wrong answers.


Let's start with this H&E section. You're viewing it cold. Which among the following would you consider as a possible diagnosis?

Dermatofibrosarcoma protuberans
Spindle Cell Carcinoma
Spindle Cell Lipoma
Solitary fibrous tumor
Spindle Cell Melanoma

The wiggly nuclei, and the mix of dense collagen bundles and loose collagen, all going every-which-way, would make most of us think of a neurofibroma.

But hey, this is the 21st century. Let's order up some immunohistochemistry.

   (solitary fibrous tumor, spindle cell lipoma)
   (solitary fibrous tumor, spindle cell lipoma)
Factor XIII
   (epithelium / carcinoma)
Muscle-specific actin
   (skeletal muscle)
   (nerve sheath)
Smooth muscle actin
   (smooth muscle)
   (nerve sheath)

When you are ready, make your diagnosis.

Dermatofibrosarcoma protuberans
Spindle Cell Carcinoma
Spindle Cell Lipoma
Solitary fibrous tumor
Spindle Cell Melanoma

Good. You made the call of a NEUROFIBROMA.

This was taken for diagnosis during the 1950's from the maternal grandfather of our index patient, who had several soft bumps on his skin. The patient was told "it was benign", and nothing further. The family has no idea of the relevance of this sixty-year-old material to the present situation.

Timmy, a six-year-old male, and his mother Martha present to a pediatrician with complaints of Timmy not being able to see the chalkboard in his first grade class. Mom said Timmy started complaining at the end of kindergarten that he was having a hard time seeing but she ignored his complaints because she didn’t have money to seek medical care. After a parent-teacher conference, Mrs. Withers encouraged Martha to have Timmy’s sight evaluated due to the fact that she had to move him to the front of the classroom because he complained he could not see. Mrs. Withers also noted that Timmy was having a hard time paying attention in class and frequently got out of his chair. Timmy’s past medical and surgical history are unremarkable. Mom and Dad are both living and healthy. Timmy is an only child. He is very active child and loves playing little league but is often frustrated because he is unable to hit and catch the ball.

On physical exam Timmy is in the 50th percentile for a six-year-old boy in both height and weight. Timmy is alert and oriented. Dr. Benson noted visual acuity of 20/70 in his right eye and 20/30 in his left eye. All other neurological exam findings were normal. Careful examination of Timmy’s body reveled 15 varying sized brown spots largely concentrated on the lower abdomen and back with a few spots on the lower left buttocks. Timmy also had several small-pigmented spots around his groin region. Mom didn’t seek medical attention about Timmy’s “birthmarks” because both she and Timmy’s maternal grandfather have those birthmarks. Mom had the same small-pigmented spots in her armpits and she is unsure about grandpa. Timmy has normal bowel, lung and heart sounds. His temperature is 98.8 F, pulse 90, respiratory rate 22, and blood pressure 114/74. There are no other notable physical findings. CBC and urinalysis are normal.

Among the following, which would you do FIRST?

Abdominal Ultrasound
Biopsy the abdominal skin lesions
Biopsy the groin skin lesions
Genetic Testing for neurofibromatosis
MRI of total body
Ophthalmology consultation
Testing for pituitary hormones

Optic Nerve Glioma
Cambridge Symposium

We hope you chose an OPHTHALMOLOGY CONSULTATION. There's nothing else pressing. Probably Timmy has neurofibromatosis, but confirming this can wait -- and plus, what difference will it make to his care? Mom is broke and can't afford it. Other than the eye problems, Timmy has no other symptoms to warrant a fishing expedition.

Timmy visited the ophthalmologist. A thorough eye exam was performed. In addition to decreased visual acuity the ophthalmologist also noticed slight proptosis of the right eye. In the right eye the optic nerve looks pale. Also it was noted there were spots in the iris of both eyes, the expected "Lisch nodules".

Timmy was sent for a scan. The radiologist's impression was "optic nerve glioma."

What do we do now? Check all that you think are good choices.

Abdominal ultrasound      
Biopsy birthmarks      
Biopsy Lisch nodules      
Corrective lenses      
Genetic test for neurofibromatosis      
Biopsy the optic nerve      

We're satisfied that this is an optic nerve glioma. We're going to monitor his neurofibromatosis. He's going to get yearly history-and-physicals. What should we do about the optic nerve glioma?

Yearly eye exams, scan occasionally, pituitary labs maybe, do not treat the glioma
Resect the glioma surgically
Radiate the glioma
Chemotherapy for the glioma


If you have wondered why there are so few pictures of optic nerve gliomas, it's because they're usually left alone.

Currently Timmy is a thriving 15-year-old male. The doctors decided to closely monitor Timmy’s NF symptoms and his Optic Pathway Glioma. MRI findings showed Optic Pathway Glioma is small and concentrated within the Right Optic Nerve. There are no pituitary signs or symptoms. Blood levels of pituitary hormones along with the MRI ruled out pituitary involvement. This confirmed that there was no need for medical intervention. Timmy’s vision was stable and correctable to 20/20 in both eyes.

About two years ago Timmy’s Optic Pathway Glioma slowly started regressing and at age 15 the Glioma, through MRI, appears to be gone.

The eye altering alters all. -- William Blake

Nature's great masterpiece, an elephant; the only harmless great thing. -- John Donne

"Elephant Eye"
Jurek Zamoyski

Crystal Worsena KCUMB '15

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