Neurofibromatosis Type 1

Spotty

Step 1: View clinicals

An 11-year-old girl is brought in by her parents, who are concerned by the presence of brown spots all over her body. The spots have been present since birth, but were few and small then. Over the years, they have progressively increased in size and number. They are not itchy or painful, and are concentrated over the torso. She is otherwise healthy with no history of convulsions, headaches, blurred vision, bone pain or previous medication use. There is no family history of similar conditions.


Step 2: Order all relevant investigations

Slit lamp examination

There are small, well-defined, dome-shaped, light brown elevations projecting from the iris.

Skin biopsy

You realize that a skin biopsy is not indicated here.

Skeletal survey

The skeletal survey shows no abnormalities.

MRI brain

The T2-weighted images show multiple high-signal-intensity abnormalities in the basal ganglia, brain stem, and cerebellar white matter, without contrast enhancement.


Step 3: Select appropriate management

Neurosurgery referral
Laser treatment
Screen parents
Chemotherapy


Score: ★★☆