Bali Dermatology and Venereology Journal
Vol. 4 No. 2 (2021)

Case report: a child with type 1 neurofibromatosis and intellectual disability

Elice Wijaya (Resident Dermatology and Venereology Department, Medical Faculty of Universitas Udayana/Sanglah General Public Hospital, Bali)
Ni Luh Putu Ratih Vibriyanti Karna (Dermatology and Venereology Department, Medical Faculty of Universitas Udayana/Sanglah General Public Hospital, Bali)
Ida Ayu Uttari Priyadarshini (Resident Dermatology and Venereology Department, Medical Faculty of Universitas Udayana/Sanglah General Public Hospital, Bali)



Article Info

Publish Date
30 Nov 2021

Abstract

Background: Neurofibromatosis is a genetic disorder which manifests as a tumor that surrounds the nerves and several other pathologic presentations.Case: Female, 11 years old, according to history, physical examination and supporting investigation was consistent with the diagnostic criteria of type 1 neurofibromatosis (NF-1). Patient also has intellectual disability. On the patient, a tumor on the foot region that was functionally disabling was found and a surgical treatment was performed.Discussion: Cognitive disorder is the most common neurological complication in individuals with NF-1 and usually present with low intelligence quotient (IQ). There is no specific treatment to prevent the development of NF-1. However, early treatment can minimize and prevent further complication. Treatment for the patient involve multiple clinical discipline.Conclusion: A neurofibromatosis case can be diagnosed clinically alone, however, since there are many other systemic involvements that require multi-disciplinary approach.

Copyrights © 2021






Journal Info

Abbrev

bdv

Publisher

Subject

Biochemistry, Genetics & Molecular Biology Medicine & Pharmacology

Description

Bali Journal of dermatology and venereology is published by Department of dermatology and venereology, Udayana University, Bali, Indonesia. Bali Journal of dermatology and venereology is an open access, peer reviewed journal aiming to communicate high quality research articles, reviews and general ...