Background: Hypothalamic hamartoma is a rare non-neoplastic lesion, typically identified in early childhood during investigations for precocious puberty and/or gelastic seizures. However, cases of diagnosis even earli...Background: Hypothalamic hamartoma is a rare non-neoplastic lesion, typically identified in early childhood during investigations for precocious puberty and/or gelastic seizures. However, cases of diagnosis even earlier or during fetal development have been documented. Case Presentation: A newborn girl was diagnosed with hydrocephalus during pregnancy. An MRI revealed a large oval hypothalamic process, which suggested a hypothalamic hamartoma. At the age of 2, she experienced alternating crying and laughing seizures, followed by a decrease in visual acuity. Due to involvement of the optic pathways, surgery was not performed and she underwent antiepileptic medicines and gamma knife radiotherapy. At the age of 5 years and 3 months, she presented with breast development and laboratory tests confirmed central precocious puberty. Quarterly injections of GnRH agonists have since been administered with favorable results. Conclusion: Early-diagnosed hypothalamic hamartomas require close monitoring, by an experienced multidisciplinary, to promptly detect and treat potential complications, especially precocious puberty, and prevent any undesirable impact on final height.展开更多
文摘Background: Hypothalamic hamartoma is a rare non-neoplastic lesion, typically identified in early childhood during investigations for precocious puberty and/or gelastic seizures. However, cases of diagnosis even earlier or during fetal development have been documented. Case Presentation: A newborn girl was diagnosed with hydrocephalus during pregnancy. An MRI revealed a large oval hypothalamic process, which suggested a hypothalamic hamartoma. At the age of 2, she experienced alternating crying and laughing seizures, followed by a decrease in visual acuity. Due to involvement of the optic pathways, surgery was not performed and she underwent antiepileptic medicines and gamma knife radiotherapy. At the age of 5 years and 3 months, she presented with breast development and laboratory tests confirmed central precocious puberty. Quarterly injections of GnRH agonists have since been administered with favorable results. Conclusion: Early-diagnosed hypothalamic hamartomas require close monitoring, by an experienced multidisciplinary, to promptly detect and treat potential complications, especially precocious puberty, and prevent any undesirable impact on final height.
