Hypothalamic hamartoma with bilateral anophthalmia |
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Authors: | Burçak Bilginer Atilla Akbay Nejat Akalan |
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Institution: | (1) Department of Neurosurgery, Hacettepe University School of Medicine, Ankara, Turkey;(2) Birlik Mah. 19. Sokak 30/10, Cankaya, Ankara, Turkey |
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Abstract: | 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. |
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Keywords: | Hypothalamic hamartoma Anophthalmia SOX2 Brain tumor |
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