Neurofibromatosis type 1 Case | 7.2 Student: Abdulrahman M. AlOmair Group : 3

Summary of the case Mr. & Mrs. Tamer They are worried about their 2 years old daughter Maha Maha has many brown spots on her skin Mr. Tamer had similar spots as a child Mr. Tamer's brothers died at age 5 of ( eye cancer )* Mr. Tamer's sister has no problem but she notices 4 skin spots. And she has been pregnant for 2 months Her son is 14 years, he refused to be tested when they asked his opinion.

The pedigree of our case p p Normal male Affected male Normal female Affected female Sex unspecific Mr. tamer’s brother died from eye cancer at age 5 Abeer Son 14 years Two months pregnant Mr. Tamer had scoliosis Mrs. Tamer Maha

Learning Objectives  The Definition Of Neurofibromatosis.  The types of neurofibromatosis.  The symptoms of neurofibromatosis.

Definition of Neurofibromatosis Neurofibromatosis is a genetic disorder that disturbs cell growth in your nervous system, causing tumors to form on nerve tissue. These tumors may develop anywhere in your nervous system, including in your brain, spinal cord and nerves.

Types of neurofibromatosis  There are three types of neurofibromatosis: Neurofibromatosis type1 Neurofibromatosis type 2 Schwannomatosis SMARCB1 gene

Symptoms Neurofibromatosis  flat, light brown spots on the skin (cafe au lait).  freckling in the armpit or groin area.  Bone deformities.  tiny bumps on the iris of eye.  Soft bumps on or under the skin.

Symptoms Neurofibromatosis  learning disabilities.  larger than average head size  short stature.

Quiz  What is the types of neurofibromatosis?  Give some symptoms of NF?

SUMMARY  What is neurofibromatosis?  Types of neurofibromatosis.  Clinical manifestation of neurofibromatosis.

References Chapter 21, Page