Neurofibromatosis

Question 1

You have an 10 year old patient that presents with several flat brown pigmented macules on their skin and an orbital lump on their upper eyelid. What test can be done to confirm your diagnosis?

A. Pupils
B. DFE
C. Slit Lamp Exam
D. Tonometry
E. MRI/Cat Scan

Answer 1

C. Slit Lamp Exam - check iris for Lisch Nodules (seen in 90% of patients with NF Type 1)

Question 2

You have an 10 year old patient that presents with several flat brown pigmented macules on their skin, an orbital lump on their upper eyelid and dome shaped lesions on the iris. How would this patient be treated?

A. Monitor and screen family
B. Photocoagulation
C. Vitrectomy
D. Cryotherapy

Answer 2

A. Monitor and screen family, no treatment for NF Type I

Question 3

You have an 10 year old patient that presents with several flat brown pigmented macules on their skin, an orbital lump on their upper eyelid and dome shaped lesions on the iris. What are possible retinal findings? (Pick 2)

A. Astrocytic retinal hamartomas
B. Racemose hemangioma 
C. Retinal capillary hemangiomas
D. Choroidal hemangioma
E. Retinal cavernous hemangioma

Answer 3

A. Astrocytic retinal hamartomas
C. Retinal capillary hemangiomas

• Racemose - Wyburn Mason Syndrome
• Choroidal Hemangioma - Sturge Weber Syndrome

Question 4

What is the order of appearance for someone with Neurofibromatosis Type I?

A. Cafe au lait, Axillary Freckling, Lisch Nodules, Neurofibromas
B. Cafe au Lait, Lisch Nodules, Axillary Freckling, Neurofibromas
C. Lisch Nodules, Cafe au Lait, Axillary Freckling, Neurofibromas
D. Lisch Nodules, Axillary Freckling, Cafe au Lait, Neurofibromas

Answer 4

B. Cafe au Lait, Lisch Nodules, Axillary Freckling, Neurofibromas

Note: Lisch Nodules is most commonly seen.

Question 5

You have an 10 year old patient that presents with several flat brown pigmented macules on their skin, an orbital neurofibroma and dome shaped lesions on the iris. What are possible cognitive complications? (Pick 3)

A. Visual Spatial Problem Solving
B. Epilepsy
C. Attention Deficit Disorder
D. Hearing Disorder
E. Language Disorder

Answer 5

A. Visual Spatial Problem Solving
C. Attention Deficit Disorder
E. Language Disorder

Question 6

You have an 10 year old patient that presents with several flat brown pigmented macules on their skin, an orbital neurofibroma and dome shaped lesions on the iris. What are possible vision complications?

A. Visual Field Defect
B. Retinal Detachment
C. Cataracts
D. Glaucoma
E. Mostly Asymptomatic

Answer 6

E. Mostly Asymptomatic

VF defect - more likely retinal cavernous hemangioma
B. Retinal Detachment - Peripheral capillary hemangioma, Sturge Weber Syndrome
C. Cataracts - Type II, NF
D. Glaucoma - Sturge-Weber Syndrome

Question 7

What are possible findings commonly associated with Type I neurofibromatosis? (Pick 2)

A. Port Wine Stains
B. Hyptension
C. Bone Fractures
D. Facial Rash
E. Tumors in fingernails (Sublingual fibroma)

Answer 7

B. Hyptension

C. Bone Fractures

Question 8

You have an 60 year old patient that presents with 2-3 flat brown pigmented macules. You see no lesions on their iris. What test can be done to confirm your diagnosis?

A. Pupils
B. DFE
C. Slit Lamp Exam
D. Tonometry
E. MRI/Cat Scan

Answer 8

E. MRI/Cat Scan for Schwannomas

Question 9

ou have an 60 year old patient that presents with 2-3 flat brown pigmented macules. You see no lesions on their iris. What are possible ocular complications? (Pick 2)

A. Epiretinal Membrane
B. Retinal Detachment
C. Premature Cataracts
D. Glaucoma
E. Macular Exudation

Answer 9

A. Epiretinal Membrane

C. Premature Cataracts

Question 10

Which would meet the criteria for Type II Neurofibromatosis? (Pick 2)

A. Positive Family history and 2 Lisch Nodules
B. Unilateral Schwannoma
C. Bilateral Schwannoma
D. 5 Cafe Au Lait and 1 Plexiform Hemangioma
E. Positive Family history and Neurofibroma

Answer 10

C. Bilateral Schwannoma
E. Positive Family history and Neurofibroma

Can also be Positive family history and Unilateral Schwannoma

Question 11

Which would meet the criteria for Type I Neurofibromatosis? (Pick 2)

A. Positive Family history and 2 Lisch Nodules
B. Unilateral Schwannoma
C. Bilateral Schwannoma
D. 5 Cafe Au Lait and 1 Plexiform Hemangioma
E. Positive Family history and Neurofibroma

Answer 11

A. Positive Family history and 2 Lisch Nodules
D. 5 Cafe Au Lait and 1 Plexiform Hemangioma

Can also include:

• Axillary or inguinal freckling
• Optic Nerve Glioma
• “Disctinctive” bone lesion
• 2 neurofibromas

Question 12

You have an 10 year old patient that presents with several flat brown pigmented macules on their skin, an orbital neurofibroma and dome shaped lesions on the iris. What would be the most likely neurological complications?

A) Hearing Loss, Tinnitus, Disequalibrium
B) Deafness, Imbalance, Weakness, Poor sight
C) Spontaneous Intracranial Hemorrhages
D) Visual spatial problem solving, language disorders, Attention deficit disorder
E) Mental Retardation, Seizures, Autism

Answer 12

D) Visual spatial problem solving, language disorders, Attention deficit disorder

Question 13

You have an 60 year old patient that presents with 2-3 flat brown pigmented macules. You see no lesions on their iris. What would be the most likely neurological complications?

A) Hearing Loss, Tinnitus, Disequalibrium
B) Deafness, Imbalance, Weakness, Poor sight
C) Spontaneous Intracranial Hemorrhages
D) Visual spatial problem solving, language disorders, Attention deficit disorder
E) Mental Retardation, Seizures, Autism

Answer 13

B) Deafness, Imbalance, Weakness, Poor sight