Nokea
A 6-year-old boy is noted to have worsening visual acuity on serial eye exams. Recent MRI of his brain and orbits reveals an optic chiasm mass, most consistent with an optic pathway glioma. Upon further examination, the physician notes axillary freckling and numerous “spots†on the patient's skin. This patient most likely has a which of the following genetic disorders?
Correct Answer: A
Rationale: The correct answer is A: Neurofibromatosis type-1 (NF1). This is because the patient presents with optic pathway glioma, axillary freckling, and numerous skin spots, which are classic features of NF1. NF1 is associated with multiple neurocutaneous manifestations, including café-au-lait spots, neurofibromas, and optic pathway gliomas. Li Fraumeni syndrome (B) is a cancer predisposition syndrome characterized by a high risk of developing various cancers, not typically associated with optic pathway gliomas or skin manifestations. Tuberous sclerosis (C) presents with features like facial angiofibromas, cortical tubers, and cardiac rhabdomyomas, not axillary freckling or optic pathway gliomas. Cystic Fibrosis (D) is a genetic disorder affecting the lungs and digestive system, not associated with the symptoms described in the patient.