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

Authors

  • 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

DOI:

https://doi.org/10.15562/bdv.v4i2.55

Keywords:

Neurofibromatosis, von Recklinghausen’s, neurofibroma

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.

Author Biographies

Elice Wijaya, Resident Dermatology and Venereology Department, Medical Faculty of Universitas Udayana/Sanglah General Public Hospital, Bali

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

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

Resident Dermatology and Venereology Department, Medical Faculty of Universitas Udayana/Sanglah General Public Hospital, Bali

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Published

2021-11-30

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