Case report: a child with type 1 neurofibromatosis and intellectual disability
DOI:
https://doi.org/10.15562/bdv.v4i2.55Keywords:
Neurofibromatosis, von Recklinghausen’s, neurofibromaAbstract
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.
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