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This case scenario highlights the unique co-occurrence of hypothalamic hamartoma with neurofibromatosis-1 in an 8-year-old boy leading to central sexual precocity. He presented with well-advanced puberty and behavioral problems along with the stigmata of NF-1 including café-au-lait’ macules and skeletal deformities. Biochemical investigations suggested that CPP is commonly due to optic nerve glioma in NF-1. However, he had dual pathology where CPP resulted from associated hypothalamic hamartoma in the absence of optic glioma. He was treated with GnRH agonist resulting in successful regression of the symptoms.

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An Eight-Year-Old Boy with Behavioral Abnormality and Phallic Enlargement

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  • 发表日期：

    2025年

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  • Sharmin Jahan

摘要

This case scenario highlights the unique co-occurrence of hypothalamic hamartoma with neurofibromatosis-1 in an 8-year-old boy leading to central sexual precocity. He presented with well-advanced puberty and behavioral problems along with the stigmata of NF-1 including café-au-lait’ macules and skeletal deformities. Biochemical investigations suggested that CPP is commonly due to optic nerve glioma in NF-1. However, he had dual pathology where CPP resulted from associated hypothalamic hamartoma in the absence of optic glioma. He was treated with GnRH agonist resulting in successful regression of the symptoms.