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Precocious Puberty in a 5-Year-Old Girl with a Giant Hypothalamic Hamartoma Discovered Perinatally: Case Report

Precocious Puberty in a 5-Year-Old Girl with a Giant Hypothalamic Hamartoma Discovered Perinatally: Case Report
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摘要 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. 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.
作者 Ghita Bourkadi Sanae Habibi Sana Abourazzak Moustapha Hida Ghita Bourkadi;Sanae Habibi;Sana Abourazzak;Moustapha Hida(Department of Endocrinology, Diabetology, Metabolic Diseases and Nutrition, Hassan II University Hospital, Fez, Morocco;Department of Pediatrics, Hassan II University Hospital, Fez, Morocco;Faculty of Medicine and Pharmacy, Sidi Mohamed Ben Abdellah University, Fez, Morocoo)
出处 《Open Journal of Endocrine and Metabolic Diseases》 2024年第4期101-106,共6页 内分泌与新陈代谢疾病期刊(英文)
关键词 Perinatally-Hypothalamic Hamartoma-Giant-Precocious Puberty Perinatally-Hypothalamic Hamartoma-Giant-Precocious Puberty
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