INTRODUCTION: Hypothalamic hamartomas are congenital malformations. Clinically, they can be asymptomatic, but they cause seizures, mental retardation and precocious puberty in many cases. CASE REPORT: A 20-day-old boy with hypothalamic hamartoma and bilateral anophthalmia was presented. Except those, no other congenital anomaly was detected. CONCLUSION: This is a rare case of hypothalamic hamartoma with bilateral anophthalmia. The mutations at SOX2 has an important role in the developing brain and eyes.
INTRODUCTION: Hypothalamic hamartomas are congenital malformations. Clinically, they can be asymptomatic, but they cause seizures, mental retardation and precocious puberty in many cases. CASE REPORT: A 20-day-old boy with hypothalamic hamartoma and bilateral anophthalmia was presented. Except those, no other congenital anomaly was detected. CONCLUSION: This is a rare case of hypothalamic hamartoma with bilateral anophthalmia. The mutations at SOX2 has an important role in the developing brain and eyes.
Authors: Stephanie A Hagstrom; Gayle J T Pauer; Janet Reid; Ellen Simpson; Sue Crowe; Irene H Maumenee; Elias I Traboulsi Journal: Am J Med Genet A Date: 2005-10-01 Impact factor: 2.802
Authors: Nicola K Ragge; Birgit Lorenz; Adele Schneider; Kate Bushby; Luisa de Sanctis; Ugo de Sanctis; Alison Salt; J Richard O Collin; Anthony J Vivian; Samantha L Free; Pamela Thompson; Kathleen A Williamson; Sanjay M Sisodiya; Veronica van Heyningen; David R Fitzpatrick Journal: Am J Med Genet A Date: 2005-05-15 Impact factor: 2.802
Authors: Daniel Kelberman; Karine Rizzoti; Ariel Avilion; Maria Bitner-Glindzicz; Stefano Cianfarani; Julie Collins; W Kling Chong; Jeremy M W Kirk; John C Achermann; Richard Ross; Danielle Carmignac; Robin Lovell-Badge; Iain C A F Robinson; Mehul T Dattani Journal: J Clin Invest Date: 2006-08-24 Impact factor: 14.808