Neurofibromatosis

Abstract

Background: The two main types are NF1 and NF2. NF1 /von Recklinhousen disease/ is a disorder that primary affects cell growth of neural tissues. Inheritance is AD /gene locus on 17q11/ with irregular penetrance and variable expressivity, although approximately 50% have new mutations NF2 is AD /gene on 22q12/ Patient: B.A is 12 years old and citizen of Dornogobi. She was diagnosed with NF when she was 5 years old at the first time and sent to tertiary care hospitals. Symptoms: Loss of vision in the left eye, swollen upper eyelid, enlargement of upper eyelid, sometimes painful, and other symptoms are increased gradually. Patient medical history: In 2015, there were symptoms of swelling, redness and pain on the left eye at the first time when she was 5. A biopsy testing was taken from the source on eyelid and total of three surgeries were performed in 2019, 2020 and 2021. Examination: General body condition is good, special features are Maculopapular rash like coffee on the skin of waist, armpits and back, skeletal wings are underdevelopment. Eye examination: VOD-1.0, VOS-0.4 OD (Right eye) – Normal OS (Left eye) – reduced space between eyelids, ptosis on the left eye, 3-4 cm sized soft texture source by palpation, without movement, source without inflammation, and clear, with cornea, the southern shelter has an average depth, pupil size 3 mm, the form is correct, reactive, no nodular formation on the iridescent shell, there are no pathological changes in the structure of the posterior segment by slit lamp. Conclusion: There is only case in Dornogobi in 10 years that we have taken biopsy testing and undergone surgery to remove the tumor three times from the left eyelid. Currently, he is being regularly monitored by a pediatrician and ophthalmologist, and we are planning to undergo ptosis surgery to correct drooping of the left eye.