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In a neonate exhibiting signs of infantile glaucoma, what other condition should be evaluated?

  1. Klinefelter syndrome

  2. Neurofibromatosis

  3. Retinoblastoma

  4. Cataracts

The correct answer is: Neurofibromatosis

Infantile glaucoma is often associated with other developmental or genetic conditions, and one notable condition to evaluate in a neonate presenting with signs of this type of glaucoma is neurofibromatosis. Neurofibromatosis can manifest with a variety of ocular abnormalities, including Lisch nodules and other vision issues, which are important to consider alongside glaucoma symptoms. The presence of infantile glaucoma may indicate underlying neurodevelopmental disorders, and neurofibromatosis has a direct link to abnormalities in both skin and eyes, making it crucial to investigate. In contrast to the other options, such as Klinefelter syndrome, which typically involves reproductive abnormalities in males and is less likely to directly associate with glaucoma, or retinoblastoma, a pediatric intraocular tumor that primarily presents with different ocular signs, neurofibromatosis has a more established connection with visual and neurological challenges that align with glaucoma observations. Similarly, while cataracts represent another significant ocular condition, they do not carry the same developmental or genetic implications as infantile glaucoma does with neurofibromatosis. Thus, evaluating for neurofibromatosis is essential in the context of infantile glaucoma to ensure comprehensive management and oversight for the neonate.