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
47XYY syndrome is a rare sex chromosome variant with an extra Y chromosome. Most patients with a 47XYY karyotype have a normal phenotype. This disorder seems to be associated with a higher risk of developing behavior ...47XYY syndrome is a rare sex chromosome variant with an extra Y chromosome. Most patients with a 47XYY karyotype have a normal phenotype. This disorder seems to be associated with a higher risk of developing behavior and cognitive problems, tall stature and infertility in adulthood. We report here a rare case of 47, XYY syndrome associated with an 11-beta-hydroxylase deficiency revealed by a stature advance along with precocious puberty after obtaining informed consent from parents. To our knowledge, this is the first case reported in the literature.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.
文摘47XYY syndrome is a rare sex chromosome variant with an extra Y chromosome. Most patients with a 47XYY karyotype have a normal phenotype. This disorder seems to be associated with a higher risk of developing behavior and cognitive problems, tall stature and infertility in adulthood. We report here a rare case of 47, XYY syndrome associated with an 11-beta-hydroxylase deficiency revealed by a stature advance along with precocious puberty after obtaining informed consent from parents. To our knowledge, this is the first case reported in the literature.
